Podcasts about genetic medicine

2024 recipient of the Natalie Weissberger Paul National Achievement Award from the NSGC, Laura Hercher, Associate Director of Genetic Counseling at the Dana-Farber Cancer Institute, Jill Stopfer, and Innovation Specialist and Chair of the British Society for Genetic Medicine, Demetra Georgiou, discuss the changing roles genetic counselors will play as genomics goes mainstream. The international panel of genetic counselors discusses:Visions for genomic mainstreamingChanging roles of genetic counselors under mainstreamingPast, present, and future barriers to genomic mainstreamingExamples of current genomic integrations

Greg and Matias interview Dana Watt, a Partner at Breakout Ventures, about genetic medicine for brain and mental health.In this episode, we discuss:How genetic therapies work: addressing underlying causes, not just symptomsThe opportunities and challenges for genetic therapies for brain healthExploring effective delivery of genetic payloadsCommercial viability and insurance considerationsCredits:Created by Greg Kubin and Matias SerebrinskyHost: Matias Serebrinsky & Greg KubinProduced by Jonathan A. Davis,  Nico V. Rey & Caitlin NerFind us at businesstrip.fm and psymed.venturesFollow us on Instagram and Twitter!Theme music by Dorian LoveAdditional Music: Distant Daze by Zack Frank

Curious about the underlying causes of chronic health issues but unsure if you're ready for a deep dive with a functional medicine practitioner? Starting with your genetic makeup as a guide can be a valuable first step in connecting symptoms to root causes. In this episode, Dr. Jannine Krause interviews Elwin Robinson, founder of Genetic Insights, host of the Rejuvenate Podcast, and author of the upcoming book The Rejuvenate Blueprint. Elwin shares his unique approach to identifying the "7 Root Causes of All Chronic Disease" and the ways these principles can help you uncover and address the root causes affecting your health. What You'll Learn in This Episode: How environmental toxins contribute to DNA mutations The role of genetics combined with personalized nutrition How toxic levels of nickel may lead to chronic infections, like H. Pylori The powerful effects of the placebo effect on health outcomes How the 7 root causes of chronic disease can provide a complete framework for assessing health Connections between low-calcium diets and increased lead absorption Resources Mentioned: Visit geneticinsights.co – Get 25% off with the code “Health Fix” Watch The Rejuvenate Blueprint by Elwin Robinson on YouTube Tune in to learn how to begin your journey in investigating the root causes of your health concerns and create a blueprint for optimal health!

Pluripotent stem cells are defined, in part, by their potential to generate cell types from all three embryonic germ layers. However, it is well known within the field that there is variability in developmental potential between cell lines. This phenomenon, sometimes referred to as lineage bias, is manifest in a variable response of individual cell lines to induction of differentiation into a specific germ layer lineage. Although lineage bias in pluripotent stem cells has been reported for some years, we do not fully understand its molecular basis, or its implications for normal development. The guests on today's program studied functional variation in human PSC lines as they progress through neurectoderm versus mesendoderm lineages and fore- versus hind-brain development. They will discuss the origin and consequences of inter-individual variation in the early events orchestrating human neural development, the extent to which such variation might impact on adult health and disease, and how it might be exploited in stem cell therapy. GuestsRon McKay is the Director of Basic Science at the Lieber Institute and has appointments in multiple departments and the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins School of Medicine, USA. He currently serves as a member of the Stem Cell Reports Editorial Board. Suel-Kee Kim is an Associate Research Scientist in the Department of Neuroscience at Yale University School of Medicine, USA. Seungmae Seo is an Assistant Professor at University of Maryland Eastern Shore, USA. Seungmae is a former ISSCR Merit and Travel Award Winner. HostMartin Pera, Editor-in-Chief, Stem Cell Reports and The Jackson Laboratory@martinperaJAXSupporting ContentIndividual variation in the emergence of anterior-to-posterior neural fates from human pluripotent stem cells, Stem Cell ReportsAbout Stem Cell ReportsStem Cell Reports is the open access, peer-reviewed journal of the International Society for Stem Cell Research (ISSCR) for communicating basic discoveries in stem cell research, in addition to translational and clinical studies. Stem Cell Reports focuses on original research with conceptual or practical advances that are of broad interest to stem cell biologists and clinicians.X: @StemCellReportsAbout ISSCRWith nearly 5,000 members from more than 80 countries, the International Society for Stem Cell Research (@ISSCR) is the preeminent global, cross-disciplinary, science-based organization dedicated to stem cell research and its translation to the clinic. The ISSCR mission is to promote excellence in stem cell science and applications to human health.ISSCR StaffKeith Alm, Chief Executive OfficerYvonne Fisher, Managing Editor, Stem Cell ReportsKym Kilbourne, Director of Media and Strategic CommunicationsJack Mosher, Scientific AdvisorVoice WorkBen Snitkoff

In this eye-opening episode, you'll be the amazing Dr. Christine Houghton, a renowned expert in Nutritional Biochemistry and Nutrigenomics, to discuss how our diets are failing us—despite living in a country like Australia where fresh food and nutrition are abundant. Shockingly, diet is the 3rd leading preventable cause of ill health and premature death among women. Chronic conditions like heart disease, diabetes, bowel cancer, and stroke are deeply connected to what we eat. Dr. Houghton shares why it's time to rethink our relationship with food and how we can make meaningful changes by understanding our genetics and biochemistry. We discuss the revolutionary fields of Nutrigenomics and Epigenetics, which highlight how each meal we consume can influence gene pathways—either promoting health or contributing to disease. Dr. Houghton also sheds light on common dietary misconceptions, critiques of modern food products, and why “food is medicine” is more than just a saying. We explore practical steps to take control of your health through smarter food choices, and Dr. Houghton introduces us to Cell Logic's nutrigenomically active products, like DefenCELL® and EnduraCell®, designed to support cellular health and disease prevention. Key Takeaways: -Each meal impacts your genes and health.-Nutrigenomics explains why food is more powerful than we realise.-Be mindful of food labels and choose nutrient-rich options.-Support your brain and body with the right supplements.-Take control of your health by signing up for the FitGenes Program waitlist at The Aging Project and - explore the science-backed supplements at You Must Try It. Listen now and share this episode to help spread Dr. Houghton's life-changing message. Lyka Discount - 40% Off using AP40 at checkoutLyka is vet-formulated meals made from real, human-grade ingredients. Check out Lyka, and get 40% off for our incredible Aging Project community. https://lyka.com.au/ Use code AP40 at checkout - For new customers only.

Send us a textDr. Benjamin L. Oakes, Ph.D., is Co-Founder, President, and Chief Executive Officer at Scribe Therapeutics ( https://www.scribetx.com/ ), a molecular engineering company focused on creating best-in-class CRISPR-based therapies that permanently treat the underlying cause of disease. Previously, as an Innovative Genomics Institute Entrepreneurial Fellow, Dr. Oakes focused on the holistic engineering of genome editing technologies to build novel genome editing molecules.Dr. Oakes has contributed to over 35 publications and patent applications across synthetic biology, molecular engineering, CRISPR, and zinc finger-based genetic modification. Dr. Oakes has been named to the MIT Technology Review 35 Innovators Under 35, San Francisco Business Times 40 Under 40, Endpoints 20 Under 40 in Biopharma, Business Insider 30 Under 40 Transforming Healthcare, and the Biocom Life Sciences Catalyst Awards. He received a Ph.D. in Molecular and Cellular Biology from the University of California, Berkeley, in 2017, where he worked in the Doudna Lab and Savage Lab developing CRISPR-Cas9 molecules with enhanced characteristics. Two such projects resulted in distinct versions of synthetic sensing systems that can modify nucleic acids only when triggered by external stimuli, and have found use in both research and pragmatically applied technologies.Prior to his Ph.D., Dr. Oakes received his B.A. in the fields of Philosophy and Neurobiology and worked as a researcher applying unbiased, combinatorial evolution methods to build tens of thousands of “version one” genome editing tools, providing an open source framework for scientists and medical professionals to modify the genome before the discovery of CRISPR technology.#BenjaminOakes #ScribeTherapeutics #MolecularEngineering #CRISPR #InnovativeGenomicsInstitute #JenniferDoudna #MolecularBiology #UniversityOfCalifornia #Berkeley #SyntheticBiology #ZincFingerNucleases #Optogenetics #EmmanuelleCharpentier  #ProgressPotentialAndPossibilities #IraPastor #Podcast #Podcaster #STEM #Innovation #Technology #Science #ResearchSupport the show

“The most charming person I have ever met” is how our host Beth describes the guest in this episode, so you are in for a treat. We have the dynamic, charismatic Colleen Gioffreda! Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases.    In her volunteer life, Colleen is LPA's Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA's Medical Advisory Board.    Colleen is lucky enough to answer to the name of ‘Mom' to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life.    Since our Executive Producer, Kira Dineen, is also a genetic counselor, she joins as a guest host in this episode.    Episode Highlights:   Understanding Terminology and Accommodations: Appropriate terms for individuals with achondroplasia and skeletal dysplasias. Vital accommodations for people with dwarfism in various aspects of life.   Home Modifications and Misconceptions: Recommended home alterations for individuals affected by dwarfism. Addressing misconceptions and stereotypes about dwarfism in her work.   Employment and Workplace Challenges: Employment roadblocks faced by little people and necessary workplace accommodations.   Career Path and Key Responsibilities: Colleen's journey towards helping the skeletal dysplasia community. Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.   School and Social Resources: Providing school and social resources to patients and parents. Importance of this support in managing skeletal dysplasias.   Adoption Advocacy: Motivations for becoming involved in adoption advocacy. Experiences and insights from facilitating adoptions of children with dwarfism. Countries with higher frequencies of children with dwarfism waiting to be adopted.   LPA Conference Management: Involvement in the LPA Conference Management Committee and the significance of organizing conferences. Memorable and rewarding experiences supporting individuals and families.   Parental Support: Approaching support and resources for parents raising children with achondroplasia.   Community Advocacy and Medical Collaboration: Pressing issues within the dwarfism community and advocacy efforts. Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints. Collaborating with medical professionals and researchers to advance understanding and treatment.   Personal and Professional Perspective: Influence of personal experience with achondroplasia on professional approach. Current initiatives and projects to support individuals with skeletal dysplasias.   Future Hopes and Advice: Hopes for the future of care and support for individuals with dwarfism. Advice for professionals and volunteers supporting individuals with rare genetic conditions.   Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias.   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Lina Ghaloul-Gonzalez, MD, a medical geneticist at UPMC Children's Hospital of Pittsburgh, discusses next-generation (next-gen) sequencing and its impact on the field of genetic medicine.

Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias.    Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy.   Amy initially started advocating in the rare disease space due to her best friend's sibling's rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families.   Want to listen to our other episodes with genetic counselors?    In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease.    In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise.    Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org.     Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In March 2024, the FDA approved a groundbreaking gene therapy for children with a specific form of leukodystrophy, offering hope to those with no current care options. However, the approval came with a hefty price tag, making headlines as the most expensive medicine in the world at $3,500,000 per patient. With the cost of innovation so high, what can we do to de-risk development, ensure affordability and achieve equitable access to these potentially life-changing therapies for the long term?Nick Kenny, CSO for Syneos Health and host for this episode, is joined by colleagues Abhi Gupta, Head of Genetic Medicine, and Dr. Prateet Minhas, Managing Director, Value & Access Consulting, to explore the evolution of genetic medicines, from the early days of clinical trials fraught with challenges to the recent surge in approvals and the promise of curative potential. Abhi and Prateet discuss the landscape for genetic medicines today, touching on topics such as manufacturing challenges, regulatory considerations, and the importance of demonstrating durability of response in clinical development.As they navigate the complexities of the field, they address key questions surrounding the value proposition of genetic medicines, including their potential to transform patient outcomes and the challenges of reimbursement and access. They also examine the role of collaboration and innovation in driving progress in the field, highlighting the need for a balanced approach that prioritizes both scientific advancement and real-world impact. For more from our cell & gene therapy experts, check out these insights: BLOG: Three Lessons Learned in Adoptive Cell Therapy Trials: A Look at the Road Ahead for ImmunologyBLOG: A Holistic Approach to Genetic Medicines is Next for the Life Science IndustryExploring an Expedited Regulatory Pathway for Cell and Gene TherapiesBLOG: Cell and Gene Therapy Sponsors Must Overcome Unique Hurdles to Realize Promise to Patients The views expressed in this podcast belong solely to the speakers and do not represent those of their organization. If you want access to more future-focused, actionable insights to help biopharmaceutical companies better execute and succeed in a constantly evolving environment, visit the Syneos Health Insights Hub. The perspectives you'll find there are driven by dynamic research and crafted by subject matter experts focused on real answers to help guide decision-making and investment. You can find it all at insightshub.health. Like what you're hearing? Be sure to rate and review us! We want to hear from you! If there's a topic you'd like us to cover on a future episode, contact us at podcast@syneoshealth.com.

Synopsis: On the Biotech2050 podcast, Tuyen Ong, CEO at Ring Therapeutics and CEO partner at flagship pioneering, shared his journey from a medical background to leading innovative gene therapy companies, highlighting the importance of cross-disciplinary expertise in driving biotech advancements. His insights into the gene therapy landscape and the future of genetic medicine, including its intersection with artificial intelligence, offer valuable perspectives for biotech professionals seeking to navigate the complexities of precision medicine and drug development. Tuyen's emphasis on fostering a values-driven culture, leveraging innovation in genetic medicine, and maintaining a resilient mindset in the face of industry challenges serves as a guiding light for aspiring biotech professionals and organizations striving to make a positive impact on global health. With a deep understanding of the industry's challenges and opportunities, Tuyen's discussion with host Rahul Chaturvedi provides a comprehensive exploration of culture-building, precision medicine, and strategic growth within the biotech industry, making it a must-listen for professionals seeking insights into innovative advancements in precision medicine. Biography: Tuyen is a physician, bioentrepreneur and Ring's CEO. Prior to joining Ring Therapeutics in September 2020, Tuyen served as Senior Vice President at Biogen and as Chief Development Officer at Nightstar Therapeutics until its acquisition by Biogen. During this time, he was involved with the company's public listing on the NASDAQ, corporate and gene therapy strategy, investor, and M&A activities. Tuyen brings over 20 years of clinical and drug development experience from both large pharma and biotech, working in the fields of genetics, ophthalmology, and rare disease at PTC Therapeutics Inc., Bausch and Lomb Inc. (acquired by Valeant Pharmaceuticals International, Inc.), and Pfizer. Tuyen holds an MD from the University College London and an MBA from New York University Stern School of Business. He is a member of the Royal College of Ophthalmologists and a Churchill Fellow.

Darrell Irvine obtained an Honors Bachelor's degree in engineering physics from the University of Pittsburgh. As a National Science Foundation graduate fellow, he then studied Polymer Science at MIT. Following completion of his PhD, he was a Damon Runyon-Walter Winchell postdoctoral fellow in immunology at the Beckman Center for Molecular and Genetic Medicine. He is presently a professor at the Massachusetts Institute of Technology and an investigator of the Howard Hughes Medical Institute. He is also an Associate Director for the Koch Institute and serves on the steering committee of the Ragon Institute of MGH, MIT, and Harvard. Irvine is the founder of Elicio Therapeutics, Strand Therapeutics, and Ankyra Therapeutics. He serves on the Scientific Advisory Boards of the MGH Cancer Center, the University of Toronto Medicine by Design Consortium, Venn Therapeutics, Alloy Therapeutics, Jupiter Therapeutics, Parallel Bio, Surge Therapeutics, and Gensaic Therapeutics.w/ Special Guest Host: Jacob Becraft - Co-Founder & CEO @ Strand TherapeuticsJake Becraft is a synthetic biologist and entrepreneur. He is the co-founder and CEO of Strand Therapeutics, and serves on its Board of Directors. Together with colleagues at MIT's renowned Synthetic Biology Center, he led the development of the world's first synthetic biology programming language for mRNA. Jake has been featured in Fierce Biotech, Bloomberg, the Boston Business Journal, and BioCentury, among others, for his vision and mission at Strand of applying this unique platform for real world disease applications. He has also been the recipient of prestigious national and international awards for his scientific and entrepreneurial achievements, including the Barry Goldwater Scholarship and Excellence in Education Award, the Andrew Viterbi Fellowship of MIT, Amgen Fellowship, and the Bristol-Myers Squibb 2018 Golden Ticket for recognition of Strand as an innovative startup. Beyond his work at Strand, Jake's broader interests span synthetic biology, biologically engineered organism-machine interfaces, and the intersection of tech and biotech methodologies. He is an advocate among the life science entrepreneurial ecosystem for supporting young founders in biotech entrepreneurship. Currently, he serves on the advisory board of Starlight Ventures, an early stage venture firm, and also serves on the Executive Board of Public Health United, a non-profit focused on helping scientists better communicate their research for maximum impact. Previously, he served as a Science and Technology advisor to legislators in the Massachusetts State Legislature. Jake received his Ph.D. in Biological Engineering and Synthetic Biology from MIT and his B.S. in Chemical and Biomolecular Engineering from the University of Illinois at Urbana-Champaign, graduating Magna cum Laude with distinction. He is an author or inventor on numerous high profile publications, patents and white papers, including in top tier journals such as Nature Chemical Biology and PNAS.Alix Ventures, by way of BIOS Community, is providing this content for general information purposes only. Reference to any specific product or entity does not constitute an endorsement nor recommendation by Alix Ventures, BIOS Community, or its affiliates. The views & opinions expressed by guests are their own & their appearance on the program does not imply an endorsement of them nor any entity they represent. Views & opinions expressed by Alix Ventures employees are those of the employees & do not necessarily reflect the view of Alix Ventures, BIOS Community, affiliates, nor its content sponsors.Thank you for listening!BIOS (@BIOS_Community) unites a community of Life Science innovators dedicated to driving patient impact. Alix Ventures (@AlixVentures) is a San Francisco based venture capital firm supporting early stage Life Science startups engineering biology to create radical advances in human health.Music: Danger Storm by Kevin MacLeod (link & license)

Biotech startup Moonwalk Biosciences has been operating quietly since 2022. It recently raised $57 million in venture capital. It's one of a handful of companies focused on epigenetic medicine, a subset of genetic medicine that looks to treat disease by changing which genes are turned on and off. WSJ Pro VC reporter Brian Gormley joins host Alex Ossola to talk about the company, and the expanding field of epigenetic medicine. Learn more about your ad choices. Visit megaphone.fm/adchoices

Join us for our first episode of 2024 as we welcome Dr. Alex Bick, Assistant Professor of Medicine in the Division of Genetic Medicine at Vanderbilt University. In this episode, we will explore the impact of clonal hematopoiesis on cancer and cardiovascular health, examine the integration of genomics in healthcare and preventative medicine, and discuss a recent finding from the Million Veterans Program of a modifier variant in APOL1 kidney disease.

Jay joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about his experience of living with erythropoietic protoporphyria (EPP). When Jay was very young, it was difficult to receive a diagnosis for his condition. It took a series of visits to various doctors, including psychiatrists, before a pediatric dermatologist diagnosed him at six years old. The symptoms of EPP are often invisible, which can make diagnosis quite difficult. With vulnerability and clarity, Jay explains that although he may look like everyone else, part of his daily mental energy is utilized managing and planning how to limit his exposure to the sun. Beyond the physical pain, Jay describes the deeper psychological impact of living with an isolating condition which forces him to avoid the sun while others seek it. Bhavik Shah, Vice-President of Research for Genetic Medicine at Portal, a BridgeBio affiliate working on an investigational treatment for EPP, provides a medical overview of the condition. He explains that EPP is an inherited cutaneous porphyria characterized by extremely painful, non-blistering photosensitivity which is often first noted in childhood, occurs acutely after sunlight exposure and often causes residual skin damage.

Stylianos Antonarakis, Professor Emeritus, Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland; Manolis Kellis, Professor of Computer Science, MIT and Broad Institute, Boston, USA

In this episode, we look at the genetic basis for different psychiatric disorders, the interconnectedness of psychological and physical symptoms, and how they apply to our ongoing conversation regarding health equity. For this episode, we welcomed back some of our previous guests: Lea Davis Ph.D. is an Associate Professor in the Division of Genetic Medicine in the Department of Medicine at Vanderbilt University Medical Center. Her work explores the genomic architecture of complex traits, defined as the type, frequency, and function of DNA variants en masse that contribute to the genetic predisposition of a given trait. We also welcomed back the talented Jane Bach, a successful songwriter from Nashville, to help us dissect how exactly gene inheritance works and share her stories and music with us! Ellie Shuert, our new production assistant from the University of Pennsylvania, also joined in for the discussion. They both made our conversation so lively and fun, and they really helped us dig deep into the fundamentals of genetics and the importance of listening intentionally to patients' stories and symptoms. We have new social media pages! Make sure to follow our new Facebook, Twitter, TikTok, Instagram, and Threads accounts so you can stay up to date on all our new content. Also don't forget to follow us on Twitter @kbjohnsonmd and @htbland21. Thanks for listening! Facebook: Informatics in the Round Twitter: @infointhernd TikTok: @informaticsintheround Instagram: @infointheround Threads: @infointheround Website: https://www.kevinbjohnsonmd.net/podcast      

he following article of the health industry is: “The Next Healthcare Revolution: CRISPR and Genetic Medicine” by Arturo de la Rosa, Independent Contributor

RARE MAMAS RISING- EPISODE 26 Driving Discoveries with Principal Investigator at the Center for Integrative Brain Research at Seattle Children's Research Institute, Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington & Rare Mama Dr. Kim Aldinger   Dr. Aldinger is a Principal Investigator in the Center for Integrative Brain Research at Seattle Children's Research Institute and an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at The University of Washington. She received a BA in biology from Brandeis University, an ALM in psychology from Harvard University, and a Ph.D. in neurobiology from The University of Chicago. Dr. Aldinger has over 20 years of research experience applying neuroscience and genomics techniques to understand the impact of genetic changes on the development of brain structures and functions relevant to neurodevelopmental disorders. She is also the mom of twins Chloe and Grayson. Grayson has a rare genetic disease called MAST4. Dr. Aldinger understands the impact of a rare disease from both a professional, scientific perspective and a personal parent viewpoint. Her deep roots in research, coupled with her passion to contribute to the rare disease community, make her one to watch as she helps drive discoveries!  EPISODE HIGHLIGHTS Dr. Aldinger's path to becoming a brain researcher  The work Dr. Aldinger does as a Professor of Genetic Medicine and as a Principal Investigator  Grayson's diagnostic journey and MAST4 diagnosis  How Dr. Aldinger co-founded the MAST Genes Research Foundation and the work she's doing on MAST genetic mutations How being a mom to a child with a rare condition informs Dr. Aldinger's work  Advice for rare parents on how to approach research Dr. Aldinger's best learnings for fellow rare mamas   LINKS & RESOURCES MENTIONED   Kimberly Aldinger https://www.seattlechildrens.org/research/centers-programs/integrative-brain-research/our-labs/aldinger-lab/ Twitter: https://twitter.com/kaaldinger MAST Genes Research Foundation  Website: https://mastgenes.org/ Facebook: https://www.facebook.com/groups/780432716601479 Twitter: https://twitter.com/mastgenes     Seattle Children's Research Institute https://www.seattlechildrens.org/research/   The University of Washington  https://www.peds.uw.edu/specialties/genetic-medicine   American Epilepsy Society https://aesnet.org/   Global Genes https://globalgenes.org/ CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com

Genetic medicine is poised to unlock more value for patients and investors due to disruptive technologies like mRNA, siRNA and gene editing. With an estimated 27 genetic medicines already approved, RBC's biotechnology analyst Luca Issi explains how these technologies could be used next, and why companies able to combine the right choice of intervention with strong execution may stand to benefit most.

Original Release on February 6th, 2023: As new gene therapies are researched, developed and begin clinical trials, what hurdles must genetic medicine overcome before these therapies are commonly available? Head of U.S. Pharmaceuticals Terence Flynn and Head of U.S. Biotech Matthew Harrison discuss. ----- Transcript -----Terence Flynn: Welcome to Thoughts on the Market. I'm Terence Flynn, Head of U.S. Pharma for Morgan Stanley Research. Matthew Harrison: And I'm Matthew Harrison, Head of U.S. Biotech. Terence Flynn: And on this special episode of Thoughts on the Market, we'll be discussing the bold promise of genetic medicine. It's Monday, February 6th, at 10 a.m. in New York. Terence Flynn: 2023 marks 20 years since the completion of the Human Genome Project. The unprecedented global scientific collaboration that generated the first sequence of the human genome. The pace of research in molecular biology and human genetics has not relented since 2003, and today we're at the start of a real revolution in the practice of medicine. Matthew what exactly is genetic medicine and what's the difference between gene therapy and gene editing? Matthew Harrison: As I think about this, I think it's important to talk about context. And so as we've thought about medical developments and drug development over the last many decades, you started with pills. And then we moved into drugs from living cells. These are more complicated drugs. And now we're moving on to editing actual pieces of our genome to deliver potentially long lasting cures. And so this opens up a huge range of new treatments and new opportunities. And so in general, as we think about it, they're basically two approaches to genetic medicine. The first is called gene therapy, and the second is called gene editing. The major difference here is that in gene therapy you just deliver a snippet of a gene or pre-programmed message to the body that then allows the body to make the protein that's missing, With gene editing, instead what you do is you go in and you directly edit the genes in the person's body, potentially giving a long lasting cure to that person. So obviously two different approaches, but both could be very effective. And so, Terence, as you think about what's happening in research and development right now, you know, how long do you think it's going to be before some of these new therapies make it to market? Terence Flynn: As we think about some of the other technologies you mentioned, Matthew, those took, you know, decades in some cases to really refine them and broaden their applicability to a number of diseases. So we think the same is likely to play out here with genetic medicine, where you're likely to see an iterative approach over time as companies work to optimize different features of these technologies. So as we think about where it's focused right now, it's being primarily on the rare genetic disease side. So diseases such as hemophilia, spinal muscular atrophy and Duchenne muscular dystrophy, which affect a very small percentage of the population, but the risk benefit is very favorable for these new medicines. Now, there are currently five gene therapies approved in the U.S. and several more on the horizon in later stage development. No gene editing therapies have been approved yet, but there is one for sickle cell disease that could actually be approved next year, which would be a pretty big milestone. And the majority of the other gene editing therapies are actually in earlier stages of development. So it's likely going to be several years before those reach the market. As, again as we've seen happen time and time again in biopharma as these new therapies and new platforms are rolled out they have very broad potential. And obviously there's a lot of excitement here around these genetic medicines and thinking about where these could be applied. But I think before we go there, Matthew, obviously there are still some hurdles that needs to be addressed before we see a broader rollout here. So maybe you could touch on that for us. Matthew Harrison: You're right, there are some issues that we're still working through as we think about applying these technologies. The first one is really delivery. You obviously can't just inject some genes into the body and they'll know what to do. So you have to package them somehow. And there are a variety of techniques that are in development, whether using particles of fat to shield them or using inert viruses to send them into the body. But right now, we can't deliver to every tissue in every organ, and so that limits where you can send these medicines and how they can be effective. So there's still a lot of work to be done on delivery. And the second is when you go in and you edit a gene, even if you're very precise about where you want to edit, you might cause some what we call off target effects on the edges of where you've edited. And so there's concern about could those off target effects lead to safety issues. And then the third thing which we've touched on previously is durability. There's potentially a difference between gene therapy and gene editing, where gene editing may lead to a very long lasting cure, where different kinds of gene therapies may have longer term potential, but some may need to be redosed. Terence, as we turn back to thinking about the progress of the pipeline here, you know, what are the key catalysts you're watching over 23 and 24? Terence Flynn: You know, as everyone probably knows, biopharma is a highly regulated industry. We have the FDA, the Food and Drug Administration here in the U.S., and we have the EMA in Europe. Those are the bodies that, you know, evaluate risk benefit of every therapy that's entering clinical trials and ultimately will reach the market. So this year we're expecting much of the focus for the gene editing companies to be broadly on regulatory progress. So again, this includes completion of regulatory filings here in the U.S. and Europe for the sickle cell disease drug that I mentioned before. And then something that's known as an IND filing. So essentially what companies are required to do is file that before they conduct clinical trials in humans in the U.S. There are companies that are pursuing this for hereditary angioedema and TTR amyloidosis. Those, if successful, would allow clinical trials to be conducted here in the U.S. and include U.S. patients. The other big thing we're watching is additional clinical data related to durability of efficacy. So, I think we've seen already with some of the gene therapies for hemophilia that we have durable efficacy out to five years, which is very exciting and promising. But the question is, will that last even longer? And how to think about gene therapy relative to gene editing on the durability side. And then lastly, I'd say safety. Obviously that's important for any therapy, but given some of the hurdles still that you mentioned, Matthew, that's obviously an important focus here as we look out over the longer term and something that the companies and the regulators are going to be following pretty closely. So again, as we think about the development of the field, one of the other key questions is access to patients. And so pricing reimbursement plays a key role here for any new therapy. There are some differences here, obviously, because we're talking about cures versus traditional chronic therapies. So maybe Matthew you could elaborate on that topic. Matthew Harrison: So as you think about these genetic medicines, the ones that we've seen approved have pretty broad price ranges, anywhere from a million to a few million dollars per patient, but you're talking about a potential cure here. And as I think about many of the chronic therapies, especially the more sophisticated ones that patients take, they can cost anywhere between tens of thousands and hundreds of thousands of dollars a year. So you can see over a decade or more of use how they can actually eclipse what seems like a very high upfront price of these genetic medicines. Now, one of the issues obviously, is that the way the payers are set up is different in different parts of the world. So in Europe, for example, there are single payer systems for the patient never switches between health insurance carriers. And so therefore you can capture that value very easily. In the U.S., obviously it's a much more complicated system, many people move between payers as they switch jobs, as you change from, you know, commercial payers when you're younger to a government payer as you move into Medicare. And so there needs to be a mechanism worked out on how to spread that value out. And so I think that's one of the things that will need to evolve. But, you know, it's a very exciting time here in genetic medicine. There's significant opportunity and I think we're on the cusp of really seeing a robust expansion of this field and leading to many potential therapies in the years to come. Terence Flynn: That's great, Matthew. Thanks so much for taking the time to talk today. Matthew Harrison: Great speaking with you, Terrence. Terence Flynn: As a reminder, if you enjoy Thoughts on the Market, please take a moment to rate and review us on Apple Podcasts app. It helps more people to find the show.

The IDEA Pod returns as Dr Natasha McKeever, programme director for the online MA Biomedical and Healthcare Ethics, interviews Amaal Maqsood-Shah, an alumnus from our campus MA programme, about her MA dissertation topic – the confidentiality of information about patients' genetic conditions.Despite guidance permitting clinicians the discretion to breach confidentiality, clinicians maintain confidences against a backdrop of litigation fears. As genomic medicine advances to return more information on the heritable basis of conditions, there is an increasing need for clinicians to understand when, and how, to communicate genetic information to at-risk relatives (The British Society for Genetic Medicine, 2017).Amaal's dissertation seeks to challenge current guidance and provide an ethical case for the non-consensual disclosure of all genetic information generated by the proband to biological relatives.Released 19 January 2021. Presented by Natasha McKeever.Ethics Untangled is produced by the IDEA Ethics Centre at the University of Leeds.Twitter: @EthicsUntangledFacebook: https://www.facebook.com/ideacetlLinkedIn: https://www.linkedin.com/company/idea-ethics-centre/

In today's episode, we discuss genetic research as it pertains to the African genome. Joining us today to talk about this topic is world-renowned geneticist, Ambroise Wonkam.  Ambroise Wonkam is a Professor of Genetic Medicine and director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. Professor Wonkam received medical training from the Faculty of Medicine and Biomedical Sciences at the University of Yaoundé I. He completed a thesis in Medical Sciences from the University of Geneva in Switzerland, and a Ph.D. in Human Genetics from the University of Cape Town in South Africa. He has also received training as a specialist medical geneticist from the University of Switzerland. Professor Wonkam is a well-seasoned researcher, with more than 190 peer-reviewed publications. His research interests hone in on 1) Genomics modifiers of sickle cell disease (SCD); 2) Genetics of hearing loss, and 3) Ethical and educational issues in human genetics in Africa. Over the past 10 years, Prof. Wonkam has successfully led numerous NIH- and Wellcome Trust–funded projects, accounting for about 20 million USD. His research projects span several countries across Africa including Tanzania, Cameroon, Nigeria, Zimbabwe, Zambia, Uganda, Mali, Sudan, Rwanda, and Ghana.Additionally, Professor Wonkam serves as president of the African Society of Human Genetics, the chair of the steering committee of H3 Africa, a board member of the International Federation of Human Genetics Societies, a steering committee member of the Global Genetic Medicine Collaborative (G2MC), and a faculty scholar of the Human Genome Organization (HUGO). Furthermore, he is the associate editor of the American Journal of Human Genetics, the American Journal of Medical Genetics, and the Journal of Community Genetics, the academic editor of PLoS One, and a member of the editorial board of Human Genetics.Links/References:Five Priorities of African Genomics Research: The Next FrontierAmbroise Wonkam, Nchangwi S. Munung, Collet Dandara, Kevin K. Esoh, Neil A. Hanchard, Guida LandoureAnnual Review of Genomics and Human Genetics 2022 23:1, 499-521https://www.annualreviews.org/doi/abs/10.1146/annurev-genom-111521-102452 Follow us on Twitter (@unfiltered_gh), LinkedIn (Global Health Unfiltered!), and Instagram (@ghunfiltered).Keep up with us on Twitter: @desmondtanko @ulricksidney and @DrellaamoakoContact us: unfilteredgh@gmail.comAudio editing and social media marketing: Diana NkhomaResearch intern: Chisomo MwaleTheme music: Antidote by KetsaArtwork: Chidiebere Ibe

Most mammals communicate vocally but humans are unique in their ability to communicate using spoken language. Humans are not born with an innate capacity to speak and understand language, but rather learn this skill as the brain develops. The complex interplay between neurobiology, genetics, and the environment shape vocal learning, but scientists do not understand the full extent to which each of these contribute to language development or to speech and language disorders. A recent study by a team of genetics and communication sciences researchers showed an association between specific gene variants and the susceptibility to developing early childhood-onset stuttering. In this episode, Iris Kulbatski from The Scientist's Creative Services Team spoke with Jennifer Piper Below, an associate professor of medicine at Vanderbilt University Medical Center's Division of Genetic Medicine, and Dillon Pruett, a postdoctoral fellow in her lab, to learn more.   The Scientist Speaks is a podcast produced by The Scientist's Creative Services Team. Our podcast is by scientists and for scientists. Once a month, we bring you the stories behind news-worthy molecular biology research.

As new gene therapies are researched, developed and begin clinical trials, what hurdles must genetic medicine overcome before these therapies are commonly available? Head of U.S. Pharmaceuticals Terence Flynn and Head of U.S. Biotech Matthew Harrison discuss. ----- Transcript -----Terence Flynn: Welcome to Thoughts on the Market. I'm Terence Flynn, Head of U.S. Pharma for Morgan Stanley Research. Matthew Harrison: And I'm Matthew Harrison, Head of U.S. Biotech. Terence Flynn: And on this special episode of Thoughts on the Market, we'll be discussing the bold promise of genetic medicine. It's Monday, February 6th, at 10 a.m. in New York. Terence Flynn: 2023 marks 20 years since the completion of the Human Genome Project. The unprecedented global scientific collaboration that generated the first sequence of the human genome. The pace of research in molecular biology and human genetics has not relented since 2003, and today we're at the start of a real revolution in the practice of medicine. Matthew what exactly is genetic medicine and what's the difference between gene therapy and gene editing? Matthew Harrison: As I think about this, I think it's important to talk about context. And so as we've thought about medical developments and drug development over the last many decades, you started with pills. And then we moved into drugs from living cells. These are more complicated drugs. And now we're moving on to editing actual pieces of our genome to deliver potentially long lasting cures. And so this opens up a huge range of new treatments and new opportunities. And so in general, as we think about it, they're basically two approaches to genetic medicine. The first is called gene therapy, and the second is called gene editing. The major difference here is that in gene therapy you just deliver a snippet of a gene or pre-programmed message to the body that then allows the body to make the protein that's missing, With gene editing, instead what you do is you go in and you directly edit the genes in the person's body, potentially giving a long lasting cure to that person. So obviously two different approaches, but both could be very effective. And so, Terence, as you think about what's happening in research and development right now, you know, how long do you think it's going to be before some of these new therapies make it to market? Terence Flynn: As we think about some of the other technologies you mentioned, Matthew, those took, you know, decades in some cases to really refine them and broaden their applicability to a number of diseases. So we think the same is likely to play out here with genetic medicine, where you're likely to see an iterative approach over time as companies work to optimize different features of these technologies. So as we think about where it's focused right now, it's being primarily on the rare genetic disease side. So diseases such as hemophilia, spinal muscular atrophy and Duchenne muscular dystrophy, which affect a very small percentage of the population, but the risk benefit is very favorable for these new medicines. Now, there are currently five gene therapies approved in the U.S. and several more on the horizon in later stage development. No gene editing therapies have been approved yet, but there is one for sickle cell disease that could actually be approved next year, which would be a pretty big milestone. And the majority of the other gene editing therapies are actually in earlier stages of development. So it's likely going to be several years before those reach the market. As, again as we've seen happen time and time again in biopharma as these new therapies and new platforms are rolled out they have very broad potential. And obviously there's a lot of excitement here around these genetic medicines and thinking about where these could be applied. But I think before we go there, Matthew, obviously there are still some hurdles that needs to be addressed before we see a broader rollout here. So maybe you could touch on that for us. Matthew Harrison: You're right, there are some issues that we're still working through as we think about applying these technologies. The first one is really delivery. You obviously can't just inject some genes into the body and they'll know what to do. So you have to package them somehow. And there are a variety of techniques that are in development, whether using particles of fat to shield them or using inert viruses to send them into the body. But right now, we can't deliver to every tissue in every organ, and so that limits where you can send these medicines and how they can be effective. So there's still a lot of work to be done on delivery. And the second is when you go in and you edit a gene, even if you're very precise about where you want to edit, you might cause some what we call off target effects on the edges of where you've edited. And so there's concern about could those off target effects lead to safety issues. And then the third thing which we've touched on previously is durability. There's potentially a difference between gene therapy and gene editing, where gene editing may lead to a very long lasting cure, where different kinds of gene therapies may have longer term potential, but some may need to be redosed. Terence, as we turn back to thinking about the progress of the pipeline here, you know, what are the key catalysts you're watching over 23 and 24? Terence Flynn: You know, as everyone probably knows, biopharma is a highly regulated industry. We have the FDA, the Food and Drug Administration here in the U.S., and we have the EMA in Europe. Those are the bodies that, you know, evaluate risk benefit of every therapy that's entering clinical trials and ultimately will reach the market. So this year we're expecting much of the focus for the gene editing companies to be broadly on regulatory progress. So again, this includes completion of regulatory filings here in the U.S. and Europe for the sickle cell disease drug that I mentioned before. And then something that's known as an IND filing. So essentially what companies are required to do is file that before they conduct clinical trials in humans in the U.S. There are companies that are pursuing this for hereditary angioedema and TTR amyloidosis. Those, if successful, would allow clinical trials to be conducted here in the U.S. and include U.S. patients. The other big thing we're watching is additional clinical data related to durability of efficacy. So, I think we've seen already with some of the gene therapies for hemophilia that we have durable efficacy out to five years, which is very exciting and promising. But the question is, will that last even longer? And how to think about gene therapy relative to gene editing on the durability side. And then lastly, I'd say safety. Obviously that's important for any therapy, but given some of the hurdles still that you mentioned, Matthew, that's obviously an important focus here as we look out over the longer term and something that the companies and the regulators are going to be following pretty closely. So again, as we think about the development of the field, one of the other key questions is access to patients. And so pricing reimbursement plays a key role here for any new therapy. There are some differences here, obviously, because we're talking about cures versus traditional chronic therapies. So maybe Matthew you could elaborate on that topic. Matthew Harrison: So as you think about these genetic medicines, the ones that we've seen approved have pretty broad price ranges, anywhere from a million to a few million dollars per patient, but you're talking about a potential cure here. And as I think about many of the chronic therapies, especially the more sophisticated ones that patients take, they can cost anywhere between tens of thousands and hundreds of thousands of dollars a year. So you can see over a decade or more of use how they can actually eclipse what seems like a very high upfront price of these genetic medicines. Now, one of the issues obviously, is that the way the payers are set up is different in different parts of the world. So in Europe, for example, there are single payer systems for the patient never switches between health insurance carriers. And so therefore you can capture that value very easily. In the U.S., obviously it's a much more complicated system, many people move between payers as they switch jobs, as you change from, you know, commercial payers when you're younger to a government payer as you move into Medicare. And so there needs to be a mechanism worked out on how to spread that value out. And so I think that's one of the things that will need to evolve. But, you know, it's a very exciting time here in genetic medicine. There's significant opportunity and I think we're on the cusp of really seeing a robust expansion of this field and leading to many potential therapies in the years to come. Terence Flynn: That's great, Matthew. Thanks so much for taking the time to talk today. Matthew Harrison: Great speaking with you, Terrence. Terence Flynn: As a reminder, if you enjoy Thoughts on the Market, please take a moment to rate and review us on Apple Podcasts app. It helps more people to find the show.

This episode is going to introduce the concepts of health equity and biomedical informatics. We'll revisit this theme multiple times in 2023 but ST and I wanted to kick off the year with this overview that will also serve to provide a framework for some of what we will be discussing as we revisit this theme. We are really lucky to have two guests, both of whom are great colleagues and friends, whose careers have focused on this topic from two very different disciplines. Lea Davis Ph.D. is an Associate Professor in the Division of Genetic Medicine in the Department of Medicine at Vanderbilt University Medical Center. Her work explores the genomic architecture of complex traits, defined as the type, frequency, and function of DNA variants en masse that contribute to the genetic predisposition of a given trait. Consuelo H. Wilkins, MD, MCSI, is a nationally recognized physician-scientist leader in health equity research focused on integrating social, cultural, and environmental factors into clinical and translational research. Dr. Wilkins is a Professor of Medicine in the Division of Geriatric Medicine within the Department of Medicine at Vanderbilt University Medical Center. She is Senior Vice President, Health Equity and Inclusive Excellence, VUMC; and Senior Associate Dean, Health Equity and Inclusive Excellence, Vanderbilt University School of Medicine.  We also welcome back The Daily Fare Northern-born songwriters Alissa Abeler and Hannah Smith who've joined creative forces to form a musical duo with a unique sound and look for Nashville performers. The pair grew up on opposite sides of the music world with influences ranging from Judy Garland and Adele to Beethoven and Bach, with a healthy dose of Broadway, punk cabaret, and 80s ballads sprinkled in the mix.  They also share a story common with many newish groups breaking into the music biz that makes the topic of today one they relate to in ways you'll readily appreciate. St and I tried to keep this at high level, but we also weren't afraid to push our friends to explain some difficult concepts. It was as important a discussion as it was enlightening and engaging, and I'm glad to be able to share it with the world. 

It's our first episode of 2023, featuring the final episode in our occasional series on Precision Medicine at Nemours. Our topic is predictive analytics for the purpose of research. Collecting it, preparing it, analyzing it, and protecting it are the realm of the Nemours Biomedical Research Informatics Center (BRIC). BRIC provides consultation, training, and computational resources to biomedical research investigators across the enterprise and beyond. Our guests are BRIC Director Dr. Timothy Bunnell, and Daniel Eckrich, BRIC's Supervisor for Research Applications. Carol Vassar, producer Listen to other episodes in the Precision Medicine series: Episode 153: What is Precision Medicine (July 25, 2022) Episode 160: Changing Medicine through Pharmacogenomics Research (Sept. 12, 2022) Episode 161: Pharmacogenomics in Practice (Sept. 19, 2022) Episode 168: Biobanking at Nemours (Nov. 7, 2022) Episode 171: Genetic Medicine and Genetic Counseling for Kids (Nov. 28, 2022)  

In this session, first recorded at the 2022 IO360° Summit, Dr Semenza will talk about how his work is impacting cancer immunotherapy. Dr Semenza's groundbreaking discovery of hypoxia-inducible factors paves the way for the development of drugs that could kill cancer cells by cutting off the oxygen supply tumors need to grow and improve the response to immunotherapies. Key areas addressed include: Regions of intratumoral hypoxia are a common feature of advanced cancersHypoxia-inducible factors increase the expression of multiple proteins that mediate immune evasionHIF inhibitors stimulate anti-tumor immunity and improve the response to immune checkpoint blockade Gregg Semenza, MD, PhD, Director, Vascular Program, Institute for Cell Engineering and Professor of Genetic Medicine, Johns Hopkins University School of Medicine Learn more about the IO360° Summit at www.io360summit.com

It's December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don't follow us on social media @DNATodayPodcast, here are this year's highlights…So far this year we have produced 1,747 minutes of new content, that's nearly 30 straight hours. And it's more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Dr. Green's career has involved directing a major genomics research program and, most recently, leading NHGRI's efforts in funding genomics research. In this episode, we are discussing the top genetic and genomic news stories of 2022 including what you listeners submitted! Shoutout to Daniel, Nydia, M.SPDH, Anna, Ryan and Nykole. Throughout his career, he has authored and co-authored over 385 scientific publications. He was featured on episode #182 of DNA Today when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green's relationship with the Institute began long before his appointment as director. He served as the Institute's scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005).On This Episode We Discuss:Completion of the human genome sequence (telomere to telomere)The Genome-sequencing arms race (Lab mergers and changers)Top genomic medicine papers of 2022Changing landscape of the genomic diagnostic ecosystemGene therapy advances including CRISPR Genome Sequencing of Acutely Ill Newborns through beginNGS2022 Nobel Prize Physiology or Medicine to Svante Pääbo for sequencing Neanderthal genome What to look out for in 2023Here is a list of links to the papers and announcements we mentioned in this episode!Genomic Medicine Year in Review: 2022 (Paper)Genome.gov accomplishments in genomic medicine (includes 2019-2022 notable accomplishments)Dr. Green's tribute to Svante Paabo when he won the Nobel this year, with links to his talks at NIH.Our breakdown of Ultima's announcement and the sequencing costs developments this year.The epic T2T news, with background, links to the papers and some explainers.Based upon the success of gene therapy trials, there are new educational materials for the sickle cell community on how to navigate this new treatment option.DNA Today Episodes Referenced: Episode #169 Cytogenomics with Phase Genomics (Optimal genome Mapping) Episode #172 PhenoTips: Advances in Rare Disease Diagnosis (with Dr. Steven Kingsmore)Episode #182 Eric Green on the Complete Human Genome ProjectEpisode #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere ConsortiumEpisode #187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh (Optimal Genome Mapping)Episode #197 CRISPR Quality Control with Kiana AranEpisode #198 CRISPR Ethics with Sam Sternberg Episode #211 Jorge Contreras on The Genome DefenseBe sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements!Stay tuned for the next new episode of DNA Today on December 16th, 2022, where we'll be discussing Preventative health through whole exome sequencing with Dahlia Attia-King of Panacea! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don't wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED)As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. Their launch is starting with residents of Florida, so if you live in other states or countries sign up on their website to be notified when testing is available in your area. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. (SPONSORED)

The U.S. has welcomed thousands Afghan refugees since pulling out of Afghanistan in 2021. Safe from the Taliban, but without social security numbers,credit ratings, or even sometimes basic English, they have to make a new life relying on a patchwork of volunteers and their wits.   Guests: Elena MacFarlane, assistant Professor in the McKusick-Nathans Institute of Genetic Medicine. Lila and Basheer, Afghan refugees living in Maryland. If you enjoy this show, please consider signing up for Slate Plus. Slate Plus members get benefits like zero ads on any Slate podcast, bonus episodes of shows like Slow Burn and Amicus—and you'll be supporting the work we do here on What Next. Sign up now at slate.com/whatnextplus to help support our work. Learn more about your ad choices. Visit megaphone.fm/adchoices

The U.S. has welcomed thousands Afghan refugees since pulling out of Afghanistan in 2021. Safe from the Taliban, but without social security numbers,credit ratings, or even sometimes basic English, they have to make a new life relying on a patchwork of volunteers and their wits.   Guests: Elena MacFarlane, assistant Professor in the McKusick-Nathans Institute of Genetic Medicine. Lila and Basheer, Afghan refugees living in Maryland. If you enjoy this show, please consider signing up for Slate Plus. Slate Plus members get benefits like zero ads on any Slate podcast, bonus episodes of shows like Slow Burn and Amicus—and you'll be supporting the work we do here on What Next. Sign up now at slate.com/whatnextplus to help support our work. Learn more about your ad choices. Visit megaphone.fm/adchoices

The U.S. has welcomed thousands Afghan refugees since pulling out of Afghanistan in 2021. Safe from the Taliban, but without social security numbers,credit ratings, or even sometimes basic English, they have to make a new life relying on a patchwork of volunteers and their wits.   Guests: Elena MacFarlane, assistant Professor in the McKusick-Nathans Institute of Genetic Medicine. Lila and Basheer, Afghan refugees living in Maryland. If you enjoy this show, please consider signing up for Slate Plus. Slate Plus members get benefits like zero ads on any Slate podcast, bonus episodes of shows like Slow Burn and Amicus—and you'll be supporting the work we do here on What Next. Sign up now at slate.com/whatnextplus to help support our work. Learn more about your ad choices. Visit megaphone.fm/adchoices

It's December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don't follow us on social media @DNATodayPodcast, here are this year's highlights…So far this year we have produced 1,747 minutes of new content, that's nearly 30 straight hours. And it's more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn't have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss:How hormones are imbalanced in people with CAHThe two main types of CAH and their symptomsGetting diagnosed with CAHCAH inheritance and carrier screeningTreatments that people with CAH can utilize and their side effectsCAH and the LGBTQIA+ communityCAH and gender identityGene therapy for CAHAdvice and insight for parents of a child who has been newly diagnosed with CAH or couples who are carriers of the conditionIf you'd like to check out the papers that we referenced in the episode, you can read those here:Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia and Gender Identity in Patients with Congenital Adrenal HyperplasiaStay tuned for the next new episode of DNA Today on December 9th, 2022 where we'll be joined by patient advocate Mike Graglia and genetic counselor Elli Brimble to discuss SynGAP1! New episodes are released every Friday. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. SPONSORED: Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don't wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now.

Our occasional series on precision medicine at Nemours continues with a look at medical genetics and genetic counseling. According to the American Society of Human Genetics, medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counseling, all offered here at Nemours.  Featuring: Karen Gripp, MD, Pediatrician, and Genetic researcher, NCH Delaware Laura Baker, Genetic Counselor, NCH Delaware Louise Amlie-Wolf, Genetic Counselor, NCH Delaware Carol Vassar, producer

Lina Ghaloul-Gonzalez, MD, a medical geneticist at UPMC Children's Hospital of Pittsburgh, discusses next-generation (next-gen) sequencing and its impact on the field of genetic medicine.

Our understanding of genetics is critical to understanding the cause of diseases, allowing scientists to target the root cause of diseases to better treat – and even cure – patients. For patients with so-called “untreatable diseases,” such as Alzheimer's and Parkinson's, the possibility of a finding a cure through genetic medicine offers great hope. This week, guest host Andrew Adams, vice president of genetic medicines and neurodegeneration research at Lilly – overseeing the research and development of novel therapeutic modalities, including oligonucleotide therapeutics, RNA therapeutics and other emerging platforms – is joined by Ruth Gimeno, vice president of diabetes research and clinical investigation, and Michelle Lynn Hall, associate vice president of genetic medicine at Lilly. The group discusses what is dubbed as the “medicine of the future,” focusing on the advancements in genetic medicine, obstacles faced when developing genetic therapeutics and the hope and promise genetic medicine brings to patients who have so-called “untreatable” diseases.

October 4: Today on TownHall https://www.linkedin.com/in/jakelancaster8/ (Jake Lancaster), Chief Medical Information Officer at https://www.baptistonline.org (Baptist Memorial Health Care) interviews https://www.linkedin.com/in/jackie-rice-b7314135/ (Jackie Rice), VP CIO at https://www.frederickhealth.org/ (Frederick Regional Health System) about genetic medicine and how they brought it into the EHR for their organization. What technological and buy-in challenges did she face and how did she overcome them? How did she balance the amount of new information being delivered to physicians without overwhelming them? What educational efforts did she implement to help onboard physicians? Sign up for our webinar: “Delivering Better Patient Experience with Modern Digital Infrastructure” - Thursday October 13, 2022: 1pm ET / 10am PT. https://thisweekhealth.com/briefing_campaigns/delivering-better-patient-experience-with-modern-digital-infrastructure/ (https://thisweekhealth.com/briefing_campaigns/delivering-better-patient-experience-with-modern-digital-infrastructure/)

The X Factor, a special series of The Elixir Factor podcast, introduces you to the top innovators at Lilly. Tune in as we put the leaders of Lilly under the microscope to explore what drives them to work on new discoveries with the potential to transform how serious illnesses are managed. In this episode, Lynn Deardorff, associate vice president of LRL portfolio strategy and chief of staff sits down with Michelle Lynn Hall, associate vice president of genetic medicine at Lilly. Michelle recounts the journey that brought her from working as a runner at a restaurant to leading a team of Lilly researchers in Boston and New York – all who are committed to the continued advancement of promising and potentially life-altering new medicines. Michelle also talks about her excitement for the future potential of genetic medicines and her love of mac & cheese! All of this and more when you hit play.

Severe pain, which is the most common complication for people living with sickle cell disease (SCD), severely affects their quality of life. This episode starts with a passage about the excruciating pain a person living with SCD endures read by SCD care and research pioneer Dr. Marilyn Hughes Gaston. Host Dr. Wally Smith talks to Kyle Smith, an advocate and SCD warrior, about his many experiences with pain from the disease. Dr. Titilope Fasipe, an SCD provider and an individual living with the disease, discusses how sickle cell is defined in other countries and differences in perception and understanding of SCD in the United States. SCD experts and care providers Dr. Sophie Lanzkron and Dr. JJ Strouse share strategies and guidelines for managing pain crises in the emergency department. Understanding and applying objective guidelines will help clinicians recognize and avoid implicit bias. Learn more by reading through the resources in the list below. Relevant resources:  ASH Sickle Cell Disease Initiative - https://www.hematology.org/advocacy/sickle-cell-disease-initiative  ASH Research Collaborative - https://www.ashresearchcollaborative.org/s/ ASH SCD Guidelines for Management of Acute and Chronic Pain - https://www.hematology.org/education/clinicians/guidelines-and-quality-care/clinical-practice-guidelines/scd-guidelines-management-of-acute-and-chronic-pain ASH pain management resources: https://www.hematology.org/advocacy/sickle-cell-disease-initiative/pain-management-resources Crescent Foundation: A Sickle Cell Initiative - https://www.crescentfoundationscd.org/  NIH Workshop: Approaches to Effective Therapeutic Management of Pain for People With SCD - https://www.nccih.nih.gov/news/events/approaches-to-effective-therapeutic-management-of-pain-for-people-with-sickle-cell-disease Article: Pain in Sickle Cell Disease. Rates and Risk Factors - https://pubmed.ncbi.nlm.nih.gov/1710777/ Book: Dying in the City of the Blues by Keith Wailoo - http://www.keithwailoo.com/dyinginthecity Book: The Troubled Dream of Genetic Medicine by Keith Wailoo - http://www.keithwailoo.com/troubleddream Music: "Envision" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 4.0 License http://creativecommons.org/licenses/by/4.0/

Jared Gross, Head of Institutional Portfolio Strategy, Felise Agranoff, Growth Equity Portfolio Manager, Dr. Matt Cohen, U.S. and Global Healthcare Portfolio Manager and Eric Ghernati, Senior Technology Analyst and Portfolio Manager, review the dramatic changes afoot in genetic medicine, automation, and cybersecurity.

Paula Soteropoulos brings to Ensoma more than 30 years of experience in the biopharma industry in areas of drug development, manufacturing, business development, global commercialization with P&L accountability, company building and organizational development. Her leadership throughout her career spans a broad range of therapeutic areas, including rare disease, cardiovascular and metabolism, infectious disease, renal, and transplant and oncology. In addition to Ensoma, Paula is a strategic advisor to 5AM Ventures and a member of the Board of Directors of uniQure and Rallybio. Previously, Paula served as the founding CEO and board member of rare disease therapeutic developer Akcea Therapeutics. There, she led the company through its IPO, as well as significant growth — employing over 270 staff in 13 countries and overseeing six drugs in its portfolio with two rare disease drug approvals and commercial launches. Prior, Paula served as senior vice president and general manager, cardiometabolic and rare disease businesses and strategic alliances at Moderna Therapeutics. She also spent more than 20 years at Genzyme Corporation, most recently as vice president and general manager, cardiovascular, rare diseases. Paula holds B.S. and M.S. degrees in chemical and biochemical engineering from Tufts University and an executive management certificate from the Darden School of Business, University of Virginia. Paula serves on the advisory board for the Chemical and Biological Engineering Department of Tufts University.

Genomics England is working to embed genomics into healthcare, enable research, and improve the diagnosis and treatment of patients. In 2018, it completed enrollment of its first initiative—the 100,000 Genomes Project—and is working on a new initiatives to explore the benefits and challenges of sequencing and analyzing the genomes of newborns. We spoke to Ellen Thomas, clinical director and director of quality for Genomics England, about the outcomes from the 100,000 Genomes Project, its Newborn Genomes Programme, and the potential for genome sequencing to alter the diagnostic odyssey for people with rare disease

Dr. Andrew Adams, Ph.D. is Vice President of Neurodegeneration Research at Eli Lilly (https://www.lilly.com/) and Co-Director of their new Lilly Institute for Genetic Medicine, a $700 million initiative to establish an institute for researching and developing genetic medicines, specifically acting at the nucleic acid level, to advance an entirely new drug class that target the root cause of diseases, an approach that is fundamentally different than medicines available today. In this role, Dr. Adams will be responsible for leading the discovery of various new types of therapies, via both internal research, and robust collaborations with external partners. These novel approaches will also allow Lilly access to previously "undruggable" targets across the breath of therapeutic areas at Lilly, as well as potentially opening up novel avenues of clinical investigation. In addition to these major roles, Dr. Adams over the recent years also took on scientific leadership of Lilly's COVID-19 neutralizing antibody projects, as well as serving as Vice President for Lilly Genetic Medicine, and during his time at Lilly has served in roles across early discovery, external innovation, and as a leader of Lilly's early trailblazer teams, championing new ways to bring Lilly science to patients with speed. Dr Adams holds a degree in biology and a doctorate in zoology from the University of Aberdeen, Scotland. Prior to joining Lilly in 2011, he was a postdoctoral fellow at Harvard Medical School studying the neurobiology of anorexia nervosa.

Ben Oakes is Co-founder, President, & CEO @ Scribe Therapeutics. He has contributed to over 25 publications and patent applications across synthetic biology, molecular engineering, CRISPR, and zinc finger-based genetic modification. A previous Innovative Genomics Institute Entrepreneurial Fellow, Ben has been named to the San Francisco Business Times 40 Under 40, Endpoints 20 Under 40 in biopharma, Business Insider 30 Under 40 transforming healthcare, and the Biocom Life Sciences Catalyst Awards. He received a PhD in Molecular and Cellular Biology from the University of California, Berkeley, where he worked in the Doudna Lab and Savage Lab developing CRISPR-Cas9 molecules with enhanced characteristics.Dave Savage is Co-founder & Scientific Advisor @ Scribe Therapeutics. He is an Associate Professor of Biochemistry, Biophysics, and Structural Biology at the University of California, Berkeley and in 2021 was selected as an Investigator of the Howard Hughes Medical Institute. Dave is an expert in biochemistry and protein engineering, and his laboratory develops novel tools for studying and manipulating the genome. Previously, he was a Department of Energy Physical Biosciences Fellow of the Life Sciences Research Foundation at Harvard Medical School.Thank you for listening!BIOS (@BIOS_Community) unites a community of Life Science innovators dedicated to driving patient impact. Alix Ventures (@AlixVentures) is a San Francisco based venture capital firm supporting early stage Life Science startups engineering biology to create radical advances in human health.Music: Danger Storm by Kevin MacLeod (link & license)

In this episode, we are joined by Dr Gemma Chandratillake. Gemma is Chair of the British Society for Genetic Medicine. Having trained as a molecular geneticist and genetic counsellor, she now holds leading roles in genomics education, including Education and Training Lead for NHS East Genomics. We chat about her transition from bench to bedside, the role of genetic counsellors and the challenges of genomics education within the NHS and among the wider public. --- Send in a voice message: https://anchor.fm/genomicsunravelled/message

DNA Today's host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira's colleague, Dr. Pawel Buckowicz.With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas.Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children's Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore's rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world.Dr. Marshall Summar is the Margaret O'Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children's National Hospital. In addition, he launched and directs Children's National's first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders' Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine.Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy's and St Thomas' NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England's contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library.In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address:The latest technological advances helping to reduce the diagnostic odyssey for patientsThe greatest challenges faced by patients and clinicians and methods to overcome themThe role of bioinformatics in the analysis of large datasets generated from sequencingThe role of rare disease diagnosis in precision medicine.Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips' Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson's Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative programs by visiting kgi.edu. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

At the start of 2022, we bring you a series of episodes pulling together the five most interesting predictions we found in multiple areas of tech. Today, we look at life sciences tech, where Covid-19 has changed everything. Pushed by the pandemic, the application of digital technologies and AI to life sciences research has accelerated big time, and that will continue into 2022 and more broadly as well. 1. We will likely move to the endemic phase of Covid-19 In 2022, we will move more to the endemic phase of SARS-CoV-2 infection, where we continue to learn to live with the virus,” Elizabeth McNally, director of the Center for Genetic Medicine and the Elizabeth J. Ward Professor of Genetic Medicine at the Northwestern Feinberg School of Medicine, says on Northwestern University's website. Although there are many concerns about new variants, especially Omicron, at this stage it seems like those who are vaccinated and “boostered" are not likely to become very sick after being exposed to the virus. The greatest risk remains for those who choose to avoid vaccination, she says. 2. New and refined methods focusing on the immune system As clinical trials for immune-related therapies in cancer continue to increase, there will be a sharper focus on the immune system in 2022, according to Fios Genomics, a bioinformatics company. Various techniques for the prediction of the immune composition of tumours from bulk data have been developed in the last couple of years and 2022 will see those techniques further refined. 3. Epigenetics research will become more popular Human genome research has traditionally focused on the coding regions of the genome. but, this disregards up to 99 percent of the whole genome. Since these regions contain important regulatory elements that control gene expression, and scientists are becoming more aware of their importance in human diseases, interest in epigenetics—the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself—will increase in 2022, according to Fios Genomics. 4. Increased interest in research into superbugs In 2022, there will be a renewed focus on the fight against superbugs and antimicrobial resistance (AMR), according to Pistoia Alliance, a non-profit outfit funded by the drug companies AstraZeneca, GSK, Novartis and Pfizer. Drug-resistant diseases could cause 10 million deaths each year by 2050 and damage to the global economy will be as catastrophic as the 2008-2009 global financial crisis, according to the United Nations. By 2030, antimicrobial resistance could force up to 24 million people into extreme poverty. 5. Life Sciences R&D to become more efficient The combination of digital process automation, AI and machine learning and content services are beginning to become the game changer it promised to be, Ferdi Steinmann, a life sciences industry specialist at OpenText, a Canadian information management tech company, writes in a blog post. A recent survey by Aris Global, a drug discovery tech platform provider, found that 83 percent of Life Sciences respondents said they were using some form of automation in R&D, he notes. 2022 will see intelligent automation become more prevalent, especially in areas such as manufacturing, quality and commercialisation.

Interview with Dr. Melinda Aldrich, who is an Associate Professor in the Department of Medicine, Division of Genetic Medicine at Vanderbilt University School of Medicine. We learn about her path to her current research as well as about how different factors impact lung cancer and how race and ethnicity can influence prognosis. We also discuss how important it is to include minority populations in our study research cohorts to truly be able to understand diseases and their development.

Genetic medicine is already a billion-dollar industry, with forthcoming research and drug development that could potentially cure the incurable. Luca Issi, Senior Biotech Analyst at RBC Capital Markets, explains how it all works and what lies ahead for this innovative industry on the Industries in Motion podcast.

Elizabeth M. McNally, MD, PhD, cardiologist at Northwestern Medicine and the Elizabeth J. Ward Professor and Director of the Center for Genetic Medicine at Northwestern University, discusses the important role that genetic testing plays in cardiovascular care. Dr. McNally shares who can benefit from genetic testing, and what makes the genetic testing process at Northwestern Medicine Bluhm Cardiovascular Institute so unique.

“What I found about genetic counselling was that whilst you might learn about the science or the condition or inheritance patterns - things that may stay constant - depending on who you're seeing, the families that are coming in to see you or the patients that are coming in to see you will all have a different story.”  In this week's episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Michelle Bishop, Education Development Lead for the Genomics Education Programme and council member at the British Society for Genetic Medicine. Having been involved in genetics and genomics education for over 15 years, Michelle has authored over 40 genomics education resources and 15 peer-reviewed papers, developed specialist NHS training curricula and competency frameworks and provided educational and clinical expertise to national projects as part of the NHS's transformational adoption of genomic medicine.  Today Michelle talks about ensuring healthcare professionals have access to the right type of education and training, engaging with people beyond the scientific community and genetic counselling. She also discusses her background and her learner centred approach.  

With RNA being the popular new “it” molecule in genetic research, Ayesha discusses Eli Lilly's new partnership with biotech company ProQR to develop RNA-based therapeutics in this episode. The $1.5 billion deal will see Lilly leverage ProQR's proprietary RNA editing platform to develop targets of interest. The team discusses how the success of the mRNA COVID-19 vaccines have heightened interest in RNA-based therapies. The editorial team also talked about a new study that found walking 7,000 steps leads to a decreased risk of premature death among middle-aged adults by 50 to 70 percent. It turns out that the popularized “10,000 steps-a-day for good health” notion is no more than a mere myth as it is not an evidence-based recommendation. The new study provides a basis for the establishment of scientifically-backed guidelines for physical activities like walking.Read the full articles here: Eli Lilly Pursues RNA Editing in New Partnership with ProQRHow Many Steps a Day Should You Actually Be Taking? New Study Shows Less May Be MoreFor more life science and medical device content, visit the Xtalks Vitals homepage.Follow Us on Social MediaTwitter: @Xtalks Instagram: @Xtalks Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

What could be keeping you from a better night of sleep? Our guest is Dr. Ana Krieger, Chief of Sleep Neurology in the Department of Neurology and the Director of the Center for Sleep Medicine at Weill Cornell. Dr. Krieger is also Professor of Clinical Medicine in the Departments of Medicine, Neurology and Genetic Medicine and board-certified by the American Academy of Sleep Medicine. She helps us address:   (1:28) why do we sleep?, (5:46) screen time and sleep distractions, (7:37) the role diet and exercise play with sleep, (9:58) white noise, (11:15) over the counter sleep aids (15:05) alcohol and sleep, (16:20) when prescription medicine is needed, (22:37) power naps, and (30:16) tips for improving sleep.   Learn more about Dr. Krieger here: https://weillcornell.org/ackrieger

On today's episode, meet Melinda Aldrich, PhD. Melinda is an Associate Professor in the Department of Medicine, Division of Genetic Medicine at Vanderbilt University Medical Center. She holds additional appointments in the Department of Thoracic Surgery and in the Department of Biomedical Informatics. Her research is focused on understanding why there are differences in lung cancer risk and survival among different racial/ethnic populations. She received her M.P.H. and PhD from the University of California, Berkeley.

Thanks to better living conditions and many miraculous strides made against disease, human longevity has significantly increased, but how close are we to immortality and eternal youth? Steve Forbes on how new studies show why we're never going to achieve eternal youth and immortality, yet why there's plenty of room for living a longer and better life.Steve Forbes shares his What's Ahead Spotlights each Tuesday, Thursday and Friday.

Dr. Shahin Rafii is a Professor of Reproductive Medicine and the Arthur B. Belfer Professor in Genetic Medicine at Weill Cornell Medical College, as well as Director of the Ansary Stem Cell Institute. His research focuses on stem cell biology and angiogenesis. We discuss his research and thoughts on the meeting.

Dr. Peter Michalos - Stem cell... genetic medicine. by John Catsimatidis

Tessera Therapeutics is seeking to move beyond gene editing and gene therapy to what it calls “gene writing.” The company said its technology can be used to change base pairs, make small insertions or deletions, and integrate entire genes into the genome. We spoke to Geoffrey von Maltzahn, co-founder and CEO of Tessera, about the company's gene writing technology, how it works, and the potential for it to accelerate the pace of genetic medicine.

Today, Ellen Gardner and Philip De Souza, Communications and Marketing at HIROC, speak with Dr. Ronald Cohn, President and CEO of the Hospital for Sick Children.   Early in his medical career, Dr. Ronald Cohn was on a tourist bus in Toronto and as it drove up University Avenue and by SickKids Hospital he told his wife, that’s one of the world’s leading children’s hospitals and I will probably never work there. Proving that life doesn’t go where you predict, in 2012 Dr. Cohn accepted a position as Chief of the Division of Clinical and Metabolic Genetics, Co-Director of the Centre for Genetic Medicine, and Senior Scientist at the SickKids Research Institute.    Even as he leads the hospital, staying true to his identity as a physician and a scientist is essential for Dr. Cohn, who still sees patients and is very active in the lab that bears his name. Most recently, his laboratory started to investigate the application of a new genome editing technology, CRISPR/Cas9 that holds the promise of correcting genetic abnormalities that lead to muscular dystrophy.   Today he is guiding the hospital in a new strategic direction called Precision Child Health. The campaign is built around the concept of individualized care tailored to each patient’s unique characteristics, from their genetic code to their postal code.   Quotes “There is an aura in our institution of the people who love working here. That is true for every single person who works here.” – RC   “Moving forward, under the concept of “SickKids care anytime, anywhere”, we will hopefully have monitoring opportunities of children at home that would help us reduce the time they have to actually stay in the hospital.” – RC “I had a lab meeting and asked the small group assembled – look at this exciting research. I want us to drop everything we’re doing right now. Are you willing to go with me on a journey trying to use this technology as a way to identify new therapeutics for muscular dystrophy?” – RC   “(With Precision Child Health) we’re trying to look at the very broad data set and then leverage the technology in order to think about prediction as well as prevention.” – RC   “It’s a difficult journey, a journey that will never end. But I’m glad we made it (diversity, equity and inclusion) a pillar of our strategic plan and we have full support from literally everyone at the executive level and director level to bring some real change.”   “There are always opportunities for change. I think leaders need to see them, identify them and you need to help implement them.” – RC   “My wife said it best: you put on a suit, it fit you and you just ran with it.”   “I can tell you that one of the best decisions of my life was to move here, and it was a difficult one.” – RC   Mentioned in this Episode:   The Hospital for Sick Children Johns Hopkins University Precision Child Health Dr. Indra Narang CRISPR/Cas9   Access More Interviews with Healthcare Leaders at HIROC.com/podcast Follow us on Twitter, and listen on iTunes. Email us at Communications@HIROC.com.  

Bijal Trivedi is an award-winning freelance journalist specializing in longform narrative features about biology, medicine, and health. She currently works as a science and technology editor for The Conversation. She has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Join host Elise Marquam Jahns as she and Bijal explore personalized medicine and the evolution of genetic medicine in the fight against disease – from a deeply human perspective. Learning Well is sponsored by the Integrative Health Education Center of Normandale Community College. Thank you for your interest in the Edge! Please go to edgemagazine.net to view the latest issue of the Edge. For information on advertising in the Edge please contact Cathy Jacobsen at 763.433.9291. Or via email at Cathy@edgemagazine.net. For article submission please contact Tim Miejan at 651.578.8969. Or via email at editor@edgemagazine.net. And for further information regarding the Edge Talk Radio contact Cathryn Taylor at 612.710.7720 or via email at Cathryn@EFTForYourInnerChild.com

Who said academics can't be entrepreneurs? Benjamin L. Oakes is the Founder and CEO of Scribe Therapeutics, a company rewriting the story of disease and engineering the future of genetic medicine. Completing his PhD at University of California, Berkeley in 2017 - Oakes worked under the supervision of Jennifer A. Doudna, a 2020 Nobel prize winner. In this podcast, we explore Oakes' career path & and the practical application of his research to make huge advancements in the field.

Dr. Andrew Fire won the Nobel Prize in Physiology or Medicine in 2006 for the discovery of RNA interference (RNAi). Dr. Fire is the George D. Smith Professor in Molecular and Genetic Medicine, and Professor of Pathology and Genetics at the Stanford University School of Medicine. He received his AB degree in mathematics from the University of California at Berkeley. He received his PhD in Biology from the Massachusetts Institute of Technology. He did training at the Medical Research Council Laboratory of Molecular Biology in Cambridge, England as a fellow. Prior to Stanford he was part of the scientific staff at the Carnegie Institution of Washington. Tune in to learn about the mechanism of RNAi, how RNAi was discovered, and the clinical applications of RNAi.

In this episode, Dr. Ronald Cohn discusses: Why he chose paediatrics (1:02) When he first recognized himself as a leader (2:06) The difference between operational and visionary leaders (03:17) His leadership strengths (04:26) The importance of getting people on board with a new organizational vision (07:41) What he’s doing to get people onside (10:44) Why it’s important for the vision to be supported by people at all levels of the organization (12:52) The importance of emotional intelligence (EQ) for leaders (13:59) How leaders can display EQ with their team (15:16) How to foster autonomy in your employees so they’re comfortable taking initiative (18:26) His top piece of advice for leaders (19:30) The craziest place he’s been to (21:10)   Ronald’s advice for leaders: Don’t be afraid to ask questions and challenge the status quo (02:45) Be honest about your strengths and weaknesses (03:17) Be humble enough to delegate the work you need help with (06:04) Be empathetic and compassionate (14:33) Never underestimate the value of EQ to build trust, consensus and to motivate (15:52) Provide guidance and empower employees to make decisions (17:50)   More about Dr. Ronald Cohn:   Dr. Ronald Cohn has served as president and chief executive officer of The Hospital for Sick Children since 2019. He initially joined SickKids in 2012 as chief of the Division of Clinical and Metabolic Genetics, co-director of the Centre for Genetic Medicine, and senior scientist at the SickKids Research Institute. He became chief of Paediatrics at SickKids in 2016, as well as the chair of Paediatrics at the University of Toronto, where he was also part of the Department of Molecular Genetics. Dr. Cohn was the first combined resident in paediatrics and genetics at the Johns Hopkins University, later becoming the director of the world’s first multidisciplinary centre for hypotonia at that university’s McKusick-Nathans Institute of Genetic Medicine. His research focuses on implementing genome-editing technologies for the treatment of neurogenetic disorders, and he has developed an interest in applying a concept of “precision child health” to the care of children – something he has worked to implement at SickKids through the use of cutting-edge technology (such as artificial intelligence, genomics, advanced imaging and innovative procedures). Some of Dr. Cohn’s awards include the David M. Kamsler Award for outstanding compassionate and expert care of paediatric patients and the Harvard-Partners Center for Genetics and Genomics Award in Medical Genetics.   Links to additional resources: https://www.sickkids.ca https://lab.research.sickkids.ca/cohn/ https://www.sickkidsfoundation.com/waystodonate https://www.thestar.com/news/insight/2015/12/22/how-genome-editing-technique-known-as-crispr-is-giving-families-new-hope.html www.tiltco.ca https://www.ivey.uwo.ca/academy/    

Can biopharma police itself? Who decides whether something's a disease or a difference? And will fecal matter ever become a drug?

Scientists have created a new more powerful technique to edit genes. While most people may be familiar with CRISPR, this new method is called “prime editing” and it offers more precise gene cuts with less errors. Jackson Ryan, science editor at CNET, joins us more on this new gene editing technique that could enable treatment for approximately 89% of genetic mutations that cause disease. Next, something very exciting as we talk to a 2019 Nobel Prize winner! Earlier in the year, Dr. Gregg Semenza and two others received the Nobel Prize for Medicine for their work into how cells sense and adapt to oxygen availability. Because of their discoveries, there have been advancements that led to anemia and cancer drugs. Dr. Semenza, Professor of Genetic Medicine at Johns Hopkins University and 2019 Nobel Laureate, joins us to explain his work, how he reacted when he got the call notifying him he had won, and the high school teacher that inspired his love of science and discovery. Learn more about your ad-choices at https://www.iheartpodcastnetwork.com

Dr. Elizabeth McNally is a human geneticist, a Northwestern Medicine cardiologist and the director of the Center for Genetic Medicine at Northwestern. In this episode, she talks about her recent discoveries in the genetics of cardiovascular and neuromuscular disorders and shares what we can expect in the next few years in the field of genetic medicine.

Direct-to-consumer genetic tests are sold online and in shops as a way to “find out what your DNA says". They insights into ancestry or disease risks; others claim to provide information on personality, athletic ability, and child talent. However, interpretation of genetic data is complex and context dependent, and DTC genetic tests may produce false positive and false negative results. Rachel Horton, clinical training fellow, Anneke Lucassen, chair of British Society of Genetic Medicine, and Jude Hayward the RCGP clinical champion for genomics join us to discuss how this deluge of genetic data is affecting patients, GPs and clinical geneticists in the NHS. Read the full article: https://www.bmj.com/content/367/bmj.l5688

Before talking to Dr. Gregg Semenza, we could find ourselves in an unprecedented scenario: President Trump could be impeached in the House, acquitted in the Senate, and then re-elected in 2020.  Congress would have nowhere to go in the event of another scandal, it might be politically impossible.  David Nather, managing editor at Axios, joins us to talk about the impeachment inquiry. Next, something very exciting as we talk to a 2019 Nobel Prize winner!  Earlier this week, Dr. Gregg Semenza and two others received the Nobel Prize for Medicine for their work into how cells sense and adapt to oxygen availability.  Because of their discoveries, there have been advancements that led to anemia and cancer drugs.  Dr. Semenza, Professor of Genetic Medicine at Johns Hopkins University and 2019 Nobel Laureate, joins us to explain his work, how he reacted when he got the call notifying him he had won, and the high school teacher that inspired his love of science and discovery. Learn more about your ad-choices at https://www.iheartpodcastnetwork.com

Avidity Biosciences is pioneering antibody oligonucleotide, a new class of therapeutics that marry the target selectivity of monoclonal antibodies with the precision of genetic medicine. The company is focusing on treatments for rare muscle disorders including myotonic dystrophy type 1 and Duchenne muscular dystrophy. We spoke to Art Levin, executive vice president of research and development at Avidity Biosciences, about the company’s therapeutic approach, why it’s focusing on rare muscle disorders, and the path forward for its therapies.

Jane Ferguson:                 Hello, welcome to Getting Personal: Omics of the Heart. It is June 2018, and this is podcast episode 17. I'm Jane Ferguson, an assistant professor of medicine at Vanderbilt University Medical Center, and a proponent of precision medicine, genomics, and finding ways to prevent and treat heart disease. Jane Ferguson:                 This podcast is brought to you by Circulation: Genomic and Precision Medicine, and the AHA Council on Genomic and Precision Medicine. Jane Ferguson:                 For our interview this month, early career member, Jennie Lin talked to Beth McNally about science and careers in genomic medicine. We'll have more on that later but first I want to tell you about the cool papers we published in the journal this month. Jane Ferguson:                 First up, Orlando Gutierrez, Marguerite Irvin, Jeffrey Kopp, Cheryl Winkler, and colleagues from the University of Alabama at Birmingham, and the NIH, published an article entitled APOL1 Nephropathy Risk Variants and Incident Cardiovascular Disease Events in Community-Dwelling Black Adults. This study was conducted in over 10 thousand participants of the Reasons for Geographic and Racial Differences in Stroke, or, REGARDS Study. They examined associations between APOL1 variants and incident coronary heart disease, ischemic stroke, or composite CVD outcome. Because there are coding variants in the APOL1 Gene that are only found in individuals of African ancestry, these are hypothesized to contribute to the disparities in cardiovascular and renal disease in African Americans. Jane Ferguson:                 The authors found that carrying the risk variants was associated with increased risk of ischemic stroke, but only in individuals who did not have diabetes, or chronic kidney disease. They hypothesize that because diabetes and kidney disease already increase CVD risk, the variant does not have an additional effect on risk in individuals with existing comorbidities. But, it contributes to small vessel occlusion and stroke in individuals without diabetes. Jane Ferguson:                 They also found that the magnitude and strength of the association became stronger in a model adjusted for African ancestry, suggesting an independent effect of the APOL1 risk variants. Jane Ferguson:                 While future work is needed to study this more, this is an important step in understanding the complex relationship between APOL1 and disease. Jane Ferguson:                 Next up, Daniela Zanetti, Erik Ingelsson, and colleagues from Stanford, published a paper on Birthweight, Type 2 Diabetes, and Cardiovascular Disease: Addressing the Barker Hypothesis with Mendelian Randomization. The Barker Hypothesis considers that low birthweight as a result of intrauterine growth restriction, causes a higher future risk of hypertension, type 2 diabetes, and cardiovascular disease. However, observational studies have been unable to establish causality or mechanisms. Jane Ferguson:                 In this paper, the authors used Mendelian Randomization as a tool to address causality. They used data from the UK Biobank, and included over 237,000 participants who knew their weight at birth. They constructed genetic predictors of birthweight from published genome wide association studies, and then looked for genetic associations with multiple outcomes, including CAD, stroke, hypertension, obesity, dyslipidemia, dysregulated glucose and insulin metabolism, and diabetes. Jane Ferguson:                 The Mendelian randomization analysis indicated that higher birthweight is protective against CAD type 2 diabetes, LDL cholesterol, and high 2 hour glucose from oral tolerance test. But, higher birthweight was associated with higher adult BMI. This suggests that the association between low birthweight and higher disease risk is independent of effects on BMI later in life. While the study was limited to a well nourished population of European ancestry, and would need to be confirmed in other samples, and through non-genetic studies, it suggests that improving prenatal nutrition may be protective against future cardiometabolic disease risk. Jane Ferguson:                 Laura Muino-Mosquera, Julie De Backer, and co-authors from Ghent University Hospital, delved into the complexities of interpreting genetic variants, as published in their manuscript, Tailoring the ACMG and AMP Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline. Jane Ferguson:                 With a large number of variants being uncovered through widespread sequencing efforts, a crucial challenge arises in their interpretation. The American College of Medical Genetics and Genomics, and the Association for Molecular Pathology put forward variant interpretation guidelines in 2015, but these were not tailored to individual genes. Because some genes have unique characteristics, the guidelines may not always allow for uniform interpretation. Jane Ferguson:                 In their manuscript, the authors focused on variants in fibrillin-1 that cause Marfan Syndrome, and reclassified 713 variants using the guidelines, comparing those classifications to previous in-depth methods which had indicated these variants' causal or uncertain significance. They find 86.4% agreement between the two methods. Jane Ferguson:                 Applying the ACMG, AMP guidelines without considering additional evidence may thus miss causal mutations. And it suggests that adopting gene specific guidelines may be helpful to improve clinical decision making and accurate variant interpretation. Jane Ferguson:                 Delving deeper into FBN1 and Marfan Syndrome, Norifumi Takeda, Ryo Inuzuka, Sonoko Maemura, Issei Komuro, and colleagues from the University of Tokyo examined the Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. They evaluated 248 patients with pathogenic, or likely pathogenic, FBN1 variants, and examined the effect of variant subtype on severe aortopathy, including aortic root replacement, type A dissections, and related death. They found that the cumulative aortic event risk was higher in individuals with haploinsufficient type variants, compared with dominant negative variants. Jane Ferguson:                 Within individuals with dominant negative variants, those that affected Cysteine residues, or caused in-frame deletions, were associated with higher risk compared with other dominant negative mutations, and were comparable to the risk of the haploinsufficient variants. These results highlight the heterogeneity and risk of the FBN1 variants, and suggest that individuals with haploinsufficient variants, and those carrying dominant negative variants affecting Cysteine residues or in-frame Deletions, may need more careful monitoring for development of aortic root aneurysms. Jane Ferguson:                 Lydia Hellwig, William Klein, and colleagues from the NIH, investigated the Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications. In this study, they analyzed whether different subclassifications of variants of uncertain significance were associated with different degrees of concern amongst recipients of genetic test results. 289 subjects were recruited from the NIH ClinSeq Study, and were presented with three categories of variants, including variants of uncertain significance, possibly pathogenic, and likely pathogenic variants. Participants were better able to distinguish between the categories when presented with all three. Whereas, a result of possibly pathogenic given on its own, produced as much worry as a result of likely pathogenic. The authors conclude that multiple categories are helpful for subjects to distinguish pathogenicity subclassification, and that subjects receiving only a single uncertain result, may benefit from interventions to address their worry and to calibrate their risk perceptions.  Jane Ferguson:                 Erik Ingelsson and Mark McCarthy from Stanford, published a really nice review article entitled Human Genetics of Obesity and Type 2 Diabetes: Past, Present, and Future. Over the past decade, we've had a lot of excitement, optimism, and also disappointment in what genome-wide association studies can deliver. Doctors Ingelsson and McCarthy do a great job laying out the history and the successes in the field of genetic interrogation of obesity and diabetes, as well as acknowledging where reality may not live up to the hype, what challenges remain, and what the future may hold. They also have a figure that uses an analogy of a ski resort to emphasize the importance of taking a longitudinal perspective. And I would argue that any paper that manages to connect apres-ski with genomics is worth reading, for that alone. Jane Ferguson:                 Robert Roberts wrote a perspective on the 1986 A.J. Buer program, pivotal to current management and research of heart disease. Highlighting how the decision by the AHA in 1986 to establish centers to train cardiologists and scientists in molecular biology, has led to huge advances in knowledge and treatment of heart disease. Jane Ferguson:                 Finally, rounding out this issue, Kiran Musunuru and colleagues, representing the AHA Council on Genomic and Precision Medicine, Council on Cardiovascular Disease in the Young, Council on Cardiovascular and Stroke Nursing, Council on Cardiovascular Radiology and Intervention, Council on Peripheral Vascular Disease, Council on Quality of Care and Outcomes Research, and the Stroke Council, published a scientific statement on Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine. Jane Ferguson:                 This paper lays out the field of cardiovascular research in the post genomic era, highlights current practices in research and treatment, and outlines vision for interdisciplinary, translational research and clinical practice, that could improve how we understand disease, and how we use those understandings to help patients. Jane Ferguson:                 Our guest interviewer today is Dr. Jennie Lin, an Assistant Professor at Northwestern Universities Feinberg School of Medicine, and the incoming Vice Chair of the Early Career Committee of the AHA Council on Genomic and Precision Medicine. As an aside, Jennie is a great person to follow on Twitter for insights into genomics and kidney disease, and as a bonus, she also posts the occasional dog photo. So she's well worth following just for that. You can find her on Twitter @jenniejlin. As you'll hear, Jennie talked to Dr. Beth McNally about her view on genomic medicine, and Beth also shared some really great practical tips for early career investigators building their independent labs. So make sure you listen all the way to the end. Take it away Jennie. Dr. Lin:                                  Thank you for tuning in to this edition of Getting Personal: Omics of the Heart, a podcast by the Genomic and Precision Medicine Council of the American Heart Association, and by Circulation: Genomic and Precision Medicine. Today I am joined by Dr. Elizabeth McNally, the Elizabeth J Ward Professor of Genetic Medicine, and director of the Center for Genetic Medicine at Northwestern University. Beth, thank you for taking time to chat with all of us. Dr. McNally:                       Happy to be here. Dr. Lin:                                  As a successful physician scientist, you have been interviewed in the past about your life, your scientific interests, and advice for budding investigators. I don't want to rehash everything you have already stated beautifully in an interview with Circ Res, for example. But instead wanted to focus more on your views of genetic medicine and genome science today. Dr. Lin:                                  So you mentioned in that prior Circ Res interview that you started your laboratory science training and career during college, when you participated in a project focused on genetic variation among children with muscular diseases. What have you found to be most interesting about the process of identifying functional genetic variants back then, and also that on-going work now. Dr. McNally:                       Well, I think over the years I've been doing this is the tools have gotten so much better, to be able to actually define the variants much more comprehensibly than we ever could in the past. And then also to be able to study them, and very much to be able to study them in context. And so I look at the revolutions in science that will cause people to look back on this era as the era of genetics. It began obviously with PCR, we couldn't have gotten anywhere without that. Dr. Lin:                                  Right. Dr. McNally:                       And then you leap forward to things like next generation sequencing, and IPS cells, and now CRISPR/Cas gene editing. And to realize that the last three happened within a decade of each other, is going to be so meaningful when you think about the next few decades, and what will happen. So being able to take an IPS cell and actually study a mutation or a variant in context of that patient, the rest of their genome, is really important to be able to do. Dr. Lin:                                  Okay, Great. And so, where do you envision ... with taking say for example, this next gen. technology, CRISPR/Cas9, studying variants in an IPS cell, for example. How do you envision this really revolutionizing the study of human genetics for patients? And how far do you think we've come in fulfilling that vision, and what do you think should be our focus going forward? Dr. McNally:                       I think broadly thinking about human genetics we're really very much still at the beginning, which I know is hard to say and hard to hear. But, we've spent a lot of the last 15 years very focused on that fraction of the genome that has high frequency, or common variation, through a lot of the GWA studies. With those common variants, we had a lot of associations, but relatively small effects of a lot of those, causing a lot of people to focus on the missing heritability and where we might find that hiding. And of course, now that we have deep sequencing, and we have deep sequencing where we've really sampled so much more of the genome, and from so many more people, I think we're just at the beginning of really appreciating that rare variation. And beginning again to really appreciate that 80-85% of the variation that's in each of our genomes is really characterized as rare. Dr. McNally:                       And so we really each are quite unique, and that when we understand a variant we do have to understand it in the context of all that other variation. So computationally that's very challenging to do. Obviously requires larger and larger data sets. But even in doing that, you are not going to find exact replicates of the combinations that you see in any one individual. While I know everybody would love that we're going to have the computational answer to all of this, it's still going to come down to a physician and a patient and making what you think is that best decision for the patient, based hopefully on some genetic data that helps inform those decisions. Dr. Lin:                                  Right, right. So it kind of gets into this whole concept of precision medicine, which has gained a lot of popularity and buzz in recent years, and Obama has really brought it to the forefront in the public arena. You mention rare variants in ... finding rare variants in each patient, for example. And moving a little bit away from some of the common variants that we find in GWAs. What does it mean for a patient to have a rare variant and come see you in your cardiomyopathy clinic, is it going to be precision for that patient, or suing rare variants among many different individual patients to try to find function for a gene? Dr. McNally:                       It's a great question. So I think the first way we approach it is, it depends who's asking the question. So if it's somebody who comes to me who has cardiomyopathy, or has a family history of cardiomyopathy and sudden death, that's a very different question to ask what's going on with their rare variants, for example in cardiomyopathy genes. Now if you translate that over to, I have a big population of people, I don't particularly know what their phenotype is, and I see rare variants for cardiomyopathy, those are two fundamentally different questions. So we very much know a lot about how to interpret rare variants for cardiomyopathy in the context of a patient or a family who has disease, and I do emphasize the latter part of that, the family, working with families and seeing how variants segregate within families. We interpret that very differently, and I think it's appropriate to interpret that very differently in that context. And that's completely different than again, going against what is the regular population, notice I'm not calling it normal population- Dr. Lin:                                  Right. Dr. McNally:                       ... but the general population that's out there. The first step in doing that is the list of the ACMG, American College of Medical Genetics, actionable genes. So this is an interesting question in and of itself. It's 59 genes, of course that list is too small, and it should be bigger than that, and ultimately that will happen. But to take a population based approach to those actionable genes, and looking across the population, finding someone who's got variants in, lets say our favorite genes MYH7, MYBPC3. Knowing what that risk means on a population level is very different than knowing what that means in the context of a patient who comes to you, who has that variant, runs in their family, and has clear disease. Those again, really two different questions, and we have to come up with what's the best practices on that, how to answer either of those questions. Dr. McNally:                       I think the first step working with patients and families who have known disease and have clear variants that segregate with disease, I think its very powerful. I think we've probably got close to a good decade of doing that already. It's incredibly useful for those patients and families. It helps us reduce their risk. It helps us treat them early, it helps us manage their arrhythmias. There's no question that that information is incredibly valuable, but we're still learning how to process that across the population, and how to answer that question for people who are coming who don't already have disease. Dr. Lin:                                  Right, right. That makes sense. And I guess that kind of plays into a follow up question about whether or not we need to test, or think about every variant of unknown significance in lab, and ... the- Dr. McNally:                       It's a great ... You know again, you always have to very carefully consider the context in which the question's being asked. So again, if you're talking about a relatively normal population, well, walking, healthy person, and you're seeing variants of uncertain significance, that's a very different question than somebody who's coming in to you with cardiomyopathy and has a highly suspicious variant of uncertain significance that falls right within the head domain of MYH7. We know a lot about that, and we can do a lot of interpretation in that case. Dr. McNally:                       However, I would say that to put too much value on what we do in the research lab ... Just putting a regulatory hat on for a second and thinking about it, there's nothing from a regulatory standpoint that really validates what we do in the research lab, to say that we can really fairly adjudicate a VUS or not. We can't do that, that's over-valuing what we do in research lab. Dr. McNally:                       So I think, how do we consider variants among certain significance? I think it's really important to recognize that it's exactly that, it's a variant of uncertain significance. And so when you're a clinician taking that to a patient, you have to approach it from the standpoint of saying, this is a variant of uncertain significance. Which means we don't know whether it's pathogenic, but we also don't know that its benign. Because I think right now what we've seen, a lot of clinicians, and even researchers, fall into the path of this believing that variant of uncertain significance is the equivalent of benign. That's not true. It is simply ... That is a rare variant, and we don't know whether it's pathogenic or non-pathogenic. And hopefully overtime we will learn more to better assess that, and better provide the interpretation of what that means in the context of that patient. Dr. McNally:                       It's a good conversation to have. It's important to recognize they're not necessarily pathogenic, but they're also not necessarily benign. Dr. Lin:                                  Mm-hmm (affirmative). So do you see a role, for example, when you see this variant of uncertain significance, is there a role to go back into lab, for example, and try to knock that mutation to IPSC's and test to see if its pathogenic? Or is that going a step too far? Dr. McNally:                       In some cases, that is the right thing to do. Because genetics is so powerful, genetics doesn't only give you the association of a gene with an outcome, and GWAs was fabulous at doing that ... giving us a lot of variants, and often nearby genes, sometimes far away genes, but linking genes to phenotypes, and that's very powerful. But specific variants can actually tell you a lot about mechanism, about how a gene and protein actually function, and how it functions when it's broken. And so, particularly where you can gain a lot from the research front in understanding mechanism, then I think it's really powerful to take those things to the laboratory and to use that to learn about mechanism. Dr. McNally:                       Sometimes you can do it to help adjudicate whether something's pathogenic or not, but again, I think we want to be cautious in doing that. Because what we do in the res ... I always like to say, "What we do in the research lab isn't exactly CLIA certified." Dr. Lin:                                  Right. Dr. McNally:                       There isn't anything magical about what we do, but we definitely ... It is so powerful what's available out there in terms of the genetic variants, and teaching us about how genes and proteins interact. And so I think it is such a rich resource of information right now. The things I bring back to the laboratory, and get my students and trainees excited about working on, is usually where I think we can gain something new about mechanism. Dr. Lin:                                  Right, right, right. Since you are a role model physician scientist, and you think about questions in lab that will ultimately benefit your patients, and you are a genetic cardiologist. What are your thoughts on doing genome editing as a possible therapy for your patients? It's a little bit of a loaded question [crosstalk 00:21:51], it's a little bit controversial. Dr. McNally:                       So I think, no doubt CRISPR/Cas9 gene editing is transforming what we do in the research setting. It's a fantastic tool. Is it a perfect tool? No. Anybody who has been using it a lot in the lab knows that it is much better than anything we've had before, but still quite limited in fidelity and efficiency. And so imagining that we are going to do that in patients is still pretty daunting to me. We do enough gene editing in cells to know that you have to select through an awful lot of cells before you get the one that has the exact variant you are trying to make. So that's not something we can tolerate in the human setting. But we're not there yet, we know that. Dr. McNally:                       Many of the disorders I see clinically are things that are autosomal dominant due to very precise single base-pair changes. And so envisioning how we're going to correct only one copy of an allele and do in a very precise manner, we don't have those tools available yet. Now on the other hand, if you look at a disease like one of the diseases I spend a lot of time on, Duchenne muscular dystrophy, where the majority of mutations are deletions. It's X-linked, it's male, so there's only one copy of the gene, and we know a whole lot about the structure and function of the gene. We know that if we take out this other part we can skip around that mutation and make an internally truncated protein. That's actually a very good use of gene editing, because it only requires making deletions. They don't need to be very precise, and there's only one copy of it that you have to do the gene editing on. Dr. McNally:                       So I see that being something in the near term that will happen, simply because the genetics positions it well to be something where that could be successful. The hard part is still how are we going to get the guides, and how are we going to get the Cas9 in safely into all the cells that need to be treated? And ultimately that lands us back at looking at what our delivery vehicles are. Which at this point in time is still viral delivery, and still has a lot of issues around can we make enough of it? Are people immune to it? So all those questions that come with viral delivery. So still lots of hurdles, but you can see some paths where it makes sense to go forward. Dr. Lin:                                  Very interesting. Okay great. Well thank you for providing your thought on human genetics and genome science. We're going to switch gears for the last portion of this podcast, and talk about your thoughts on career development issues for young investigators. At a recent AHA Scientific Sessions meeting, you participated on a panel that was assembled to provide advice to early career scientists. When you were starting out, what were some of the biggest challenges you faced when you were transitioning to independence and building your own lab, and what's your advice to those facing the same challenges today? Dr. McNally:                       Well, even though I did it quite a few years ago, many of the things are still the same. Transitioning to independence, I think is easier if you pick up and move and start in a new place. I think it's much easier to establish your independence when you're not in the same place as your mentor. That said, we have many more people who now stay in the same place as where their mentors were and we have many more approaches towards doing that. So I think people are much more open to both possibilities as being ways of doing that. But at some level it still comes down to starting your own lab, and you hopefully have been given some start-up resources and you have to think about how to wisely spend them, and how to really get things going. I don't think this is changed either. Dr. McNally:                       I usually tell people, don't just start in one area, if you can, start in two areas because things don't work, and sometimes things do work. In reality when you look at people who are successful, they're often working in more than one area. And so the sooner you start getting comfortable working in more than one area, that's a good thing. Now ideally, they should be areas that have some relationship to each other, and then feed each other in terms of information so that they grow off each other. But what does that practically mean? I always say, "Well if you can hire two people and start them on two different paths, that's a really good way to get going." And practical things like look at all different kinds of private foundations and things like that for getting some good pilot start up money to help develop new projects in the lab. And always be looking at how can these projects help me develop a bigger data package, that's going to put me in a good competitive position for example bigger grants and federal funding, and things along those lines. Dr. McNally:                       Very much a stepwise process. People want to shoot for the moon and get the biggest things first, but sometimes just focusing on the smaller steps which are definitely achievable and building your path towards those bigger steps is the smarter way of doing it. Dr. Lin:                                  That's great advice. You also mentioned recently that young investigators should try to have as many mentors as possible. What advice would you have for, in particular, early career genomics investigators, for finding these mentors passed the postdoc phase? Some of us get introduced at the postdoc phase to maybe some other collaborating labs, but those are really collaborations of our mentors per se. Dr. McNally:                       Well I think especially in the field of genetics and genomics, collaboration is key, and I will say one of the things that has changed over since I started doing this is there is a lot more understanding of the need to collaborate. Not so many years ago, it wasn't really an independent investigator went and started a lab, and it would be your trainees and the papers would have only those people on it. Dr. McNally:                       I think these days, the best science is where you've tackled a problem from multiple different directions, one or two of those being genetics, genomics directions. And then sometimes there's other ways that you've approached that scientific problem. And by necessity, that usually involves collaborating with other people. And your role is sometimes to be the coordinator of all those collaborators, and that's where again you might be in a senior author position then doing that. But your role sometimes is to be the good collaborator. And so when I look at people being successful right now, seven, eight years in to running their own lab, I like to see that they've been the organizer of some of those, that they've collaborated with people who are even senior to them, and that they've established those good collaborations, but that they've taken the leading role in doing that. But also that they've had middle author contributions, that they've been a good collaborator as well. Dr. McNally:                       And so, part of that is not being afraid to collaborate, and to recognize the value of doing that. And what's so great about doing that is you can collaborate with people at your same institution where you are, but you can also collaborate with people all over the world, and I think that's what we do. You go to where you need somebody who is using a technique or an approach that really helps answer the question you want to have answered. And so that's reaching out to people and really establishing again that network and good collaborators which you can do by a whole bunch of ways. You can do it by meeting somebody at a meeting, scientific meeting. You can do it through emails, phone calls, Skype, all sorts of different ways that you can reach out and collaborate with people. Dr. McNally:                       It is easier than ever to share data and share ideas, but that negotiation of how to establish the terms of the collaboration and how to make it be successful is a critically important part of being a scientist. And what we now know when we look at the promotion process, is people who do that effectively, that's a really important mark of being a successful scientist, and marks them as somebody who should be promoted through the process. So great. Dr. Lin:                                  Yeah. No I agree. Certainly with the direction science is moving, it's definitely very difficult to work in a siloed manner. Dr. McNally:                       Yeah. Well you won't get very far. You'll be able to have some really good first ideas, and show some proof of principle approaches. But to really, really address an important scientific problem, we know that you have to see those signals using multiple different methods. And once you have five different ways showing you that that's the right answer, then you're much More confident that you've gotten to the right answer. Dr. Lin:                                  Right. Alright, so I think we're going to wrap up. Do you have any other final thoughts for any other young investigators or genomics researchers listening to this podcast? Dr. McNally:                       It's a great time to be doing genetics and genomics, and particularly human genetics, where we now finally have all this information on humans, and we'll have even more of it in the future. So I think humans are coming close to becoming a real experimental system. Dr. Lin:                                  Excellent. Alright well thank you so much for your time. It was a pleasure having you on this podcast. Dr. McNally:                       Great. Thank you for doing this. Jane Ferguson:                 As a reminder, all of our original research articles come with an accompanying editorial, and these are really nice to help give some more background and perspective to each paper. To read all of these papers, and the accompanying commentaries, log on to circgenetics.ahajournals.org. Or, you can access video summaries of all our original articles from the circgen website, or directly from our YouTube channel, Circulation Journal. And lastly, follow us on Twitter @circ_gen, or on Facebook, to get new content directly in your feed. Jane Ferguson:                 Okay, that is it from us for June. Thank you for listening, and come back for more next month.  

Dr. Carolyn Lam:               Welcome to Circulation on the Run, your weekly podcast summary and backstage pass to the journal and its editors. I'm Dr. Carolyn Lam, associate editor from the National Heart Center and Duke National University of Singapore.                                                 Our feature discussion this week centers on the temporal changes in natriuretic peptides preceding heart failure hospitalizations and patients at high risk. Data that are really novel and have implications for the way we perhaps monitor and categorize these high risk patients. Well, more soon right after these summaries.                                                 The first original paper this week provides the first epigenome-wide association study in patients with heart failure. Now, epigenetics refers to biochemical DNA modification such as methylation of gene bodies, and post-translational modification of histones, which is increasingly recognized to play a crucial, regulatory interface between genes, environment, and the transcriptome.                                                 The lack of availability of myocardial specimens from patients has been a major roadblock for elucidating the impact of such epigenetic changes on complex cardiovascular traits. However, in today's paper from first author, Dr. Meder, corresponding author, Dr. Katiz and colleagues from University of Heidelberg, Germany. The authors performed the first multi-omic study in myocardial tissue and blood of patients with dilated cardiomyopathy compared to controls.                                                 They detected 59 epigenetic loci that are significantly associated with dilated cardiomyopathy, with three of them reaching epigenome-wide significance. 29 of these loci could be replicated in independent cohorts and authors further linked a subset of 517 epigenetic loci with dilated cardiomyopathy and cardiac gene expression.                                                 Finally, they identified distinct epigenetic methylation patterns that are conserved across tissues. Thus representing novel, epigenetic biomarkers for heart failure.                                                 The next study is the first to assess a diagnostic and prognostic value of cardiac myosin binding protein-C in patients presented with possible acute myocardial infarction or AMI. Cardiac myosin binding protein-C is a cardiac restricted protein that is more abundant than the cardiac troponins and is released more rapidly following AMI.                                                 In today's paper, first author, Dr. Kaya, corresponding author, Dr. Marber and colleagues from the Rayne Institute In St. Thomas's hospital in London evaluated cardiac myosin binding protein-C as an adjunct or alternative to cardiac troponins in the early diagnosis of AMI in 1,954 unselected patients presenting to the emergency department with symptoms suggestive of AMI.                                                 The final diagnosis of AMI was independently adjudicated in 340 patients. The authors found that concentrations of cardiac myosin binding protein-C at presentation were significantly higher in those with versus without an AMI. The discriminatory power for AMI quantified by the area under receiver operating curve was comparable for cardiac myosin binding protein-C to high sensitivity cardiac troponins T and I, and even superior to standard sensitivity cardiac troponin I. The use of cardiac myosin binding protein-C more accurately classified patients with a single blood test and to rule out or rule in categories in early presenters, meaning those with chest pain of less than three hours.                                                 The improvement in rule in or rule out classification with cardiac myosin binding protein-C was larger compared with higher sensitivity cardiac troponins T and I. Finally, cardiac myosin binding protein-C was superior to high sensitivity and standard troponin I and similar to high sensitivity cardiac troponin T at predicting death at three years. Thus in summary, this paper shows that cardiac myosin binding protein-C at presentation provides discriminatory power comparable to high sensitivity troponins T and I in the diagnosis of AMI and may perform favorably in patients presenting early after symptom onset.                                                 The next paper describes the discovery of a novel candidate cardiomyopathy or arrhythmia gene. First author, Dr. Barryfield, corresponding author Dr. McNally from Center of Genetic Medicine in Chicago and colleagues studied a family with dilated cardiomyopathy and associated conducted system disease in whom prior clinical cardiac gene panel testing was unrevealing. Whole genome sequencing however, identified a premature stop codon in the gene encoding a novel myo filament component, the myosin binding protein-H-like.                                                 Having identified this gene, they turned to experimental approaches. The myosin binding protein-H-like gene was found to have high atrial expression with low ventricular expression. The truncated protein failed to incorporate into the myo filament. Human cell modeling demonstrated reduced expression of the mutant allele. Heterozygotes and nullumites exhibited a reduction in fractional shortening and increased diastolic ventricular chamber size, aberrant atrio-ventricular conduction and an increased rate of arrhythmia associated with the expression of the myosin binding protein-H-like in the atria, as well as in discrete puncta throughout the right ventricular wall and septum.                                                 These findings therefore support that myosin binding protein-H-like truncations may increase the risk for human arrhythmias and cardiomyopathy.                                                 Transplantation of cells into the infarctant heart has significant potential to improve myocardial recovery. However, low efficacy of cell engraftments still limits the therapeutic benefit. In today's paper, authors describe a method for the unbiased, in-vivo selection of cytokines that may improve Mesenchymal stromal cell engraftment into the heart. In this paper from first author, Dr. Bortolotti, corresponding author Dr. Giacca, and colleagues from University of Trieste in Italy, an arrayed library of 80 secreted factors were individually cloned into adeno-associated viral vectors.                                                 Pools from this library were then used for the batch transduction of bone marrow derived Mesenchymal stromal cells ex-vivo, followed by intra myocardial cell administration in normal and infarctant mice. Three weeks after injection, the vector genomes were recovered from the few persisting cells, and identified by sequencing DNA barcodes that were uniquely labeled for each of the tested cytokines.                                                 Using this novel, competitive, engraftment screening methodology, the authors identified that the most effective molecule was cardiotrophin-1 a member of the IL-6 family. Intra cardiac injection of Mesenchymal stromal cells preconditioned with cardiotrophin-1 preserved cardiac function and reduced infarct size parallel to the persistence of the transplanted cells in the healing hearts for at least two months after injection. Thus, preconditioning with cardiotrophin-1 might represent an efficient manner to improve the currently poor cell retention in patients treated with Mesenchymal stromal cell therapy.                                                 The final paper presents results of the early myo trial, a non-inferiority trial comparing a pharmacoinvasive strategy with half-dose alteplase versus primary PCI in patients with STEMI, presenting six hours or less after symptom onset but with an unexpected PCI related delay.                                                 First author, Dr. Poole, corresponding author, Dr. Hua and colleagues from Shanghai Jiao Tong University in China randomized a total of 344 patients from seven centers to a pharmacoinvasive arm or a primary PCI arm. They found that pharmacoinvasive strategy was non-inferior to primary PCI for the primary endpoint of complete epicardial and myocardial reperfusion after PCI defined as TIMI flow grade 3, TIMI myocardial profusion grade 3, and ST-segment resolution of more than 70%.                                                 There was no significant differences in the frequency of the individual components of the combined endpoint. Infarct size and left ventricular ejection fraction were similar in both groups and there was no significant differences in 30-day rates of total death, re-infarction, heart failure, major bleeding events, or intracranial hemorrhage. However, minor bleeding was observed more often in the pharmacoinvasive group.                                                 Thus the authors concluded that a pharmacoinvasive approach with reduced dose alteplase seems to offer effective and safe reperfusion in low-risk patients with STEMI with an unexpected PCI related delay. Further large, randomized control trials powered for clinical endpoints are needed.                                                 Well, that wraps it up for your summaries. Now for our feature discussion.                                                 The measurement of natriuretic peptides BNP, NT-proNP have certainly become the cornerstone of heart failure management. We measure these levels by guidelines in patients who are presenting with symptoms and suspected heart failure, in patients who are hospitalized. We measure them for prognostication purposes at discharge. However, what we don't really know is how the preceding changes in natriuretic peptides may precede heart failure hospitalization in patients who are at high risk of developing heart failure.                                                 For example, patients with a recent coronary event or type-2 diabetes. And this is the very subject of our feature paper today, and I am so pleased to have the corresponding author of today's paper which is really a research letter. Dr. Brian Claggett from Brigham and Women's Hospital as well as Dr. Biykem Bozkurt who's our senior editor from Baylor College of Medicine.                                                 Welcome both, and maybe I could start, Biykem could you let us know, what are the unanswered questions in heart failure relating to natriuretic peptides and how do you see this paper falling in, clinically? Dr. Biykem Bozkurt:        Carolyn, this is a wonderful I think prelude to perhaps preventing heart failure events. And as you are aware, we in the recent year changed our guidelines at the ACC, AHA, and the HFSA incorporating screening high risk patients for development of incident heart failure. And the study that resulted in this consideration was a STOP-HF trial which was utilizing natriuretic peptides in high risk patients to determine whether their closer follow up in a multidisciplinary fashion would result in earlier detection and prevention of heart failure, and which it did.                                                 And this study I think is straddling the concept of high risk or stage A or B patients because they are individuals who have had heart attacks, coronary events, and they have type-2 diabetes so they are definitely high risk. And doing natriuretic peptides as an outpatient, whether that would predict the heart failure hospitalizations.                                                 And in essence I think it's a good concept. Perhaps the challenging concepts are how often should we screen our patients, and what will be the threshold of the rise that would potentially make us act in either earlier diagnostic strategies, or management strategies. I think those are the two unanswered questions that remains.                                                 How are we gonna screen our patients? Our high risk patients to determine when they are developing heart failure before they become symptomatic? So, what threshold are we going to use? Dr. Carolyn Lam:               That is a perfect set up. I just wanted to add as well in addition to STOP-HF there was the PONTIAC study in diabetics which is very relevant to today's paper that also sort of used NT-proBNP to risk stratify patients for prevention of heart failure. But neither of these studies talked about the temporal changes in natriuretic peptides. And I think a lot of the reason for that is, is that the methods, I mean the statistical methods to do that sort of thing are mind-blowing.                                                 And so Brian, could you now please share with us what you did, the methodology and basically what you found before we discuss the two questions that Biykem brought up? Dr. Brian Claggett:           What was really interesting is the method that we came up with to look at these questions. It's something that we like to believe will be generalizable and can be used in other scenarios and for other biomarkers. But the idea that we have is that we are always used to thinking about the design of a clinical trial as being very regimented. So, you see a patient once at baseline, and then maybe six months later, and then maybe six months after that, and so on. And so it's hard to know what's going on, on a day to day or week to week basis.                                                 But if you think backwards, and you think backwards from the time of any sort of event, because those events whether they're hospitalizations or MIs or death, they happen not on that same schedule. And so odds are at the end of a trial, you had a patient who came to a scheduled visit and then had an event the next day. And you probably had a patient who came in for a visit two days before an event, and another patient who came in a week before an event. So if you start thinking on that time scale, you can piece together all these different time frames when you do have data collected and try to reconstruct something that looks like an actual continuous natural history of what that biomarker would have looked like over say a two year period, if it had been measured continuously. Dr. Carolyn Lam:               So, tell us what you found. First of all, let's just make sure that everyone knows you were looking at the ELIXA cohort, right? Dr. Brian Claggett:           Yes, the data that we had available for this analysis comes from the ELIXA trials, it was 6,068 patients all with type-2 diabetes and a recent ACS event. Recent meaning within the last 180 days. And they were randomized placebo versus a diabetes drug, lixisenatide. And they were followed up for cardiac outcomes.                                                 Beyond that, the natriuretic peptides were measure systematically at baseline, month 6, month 18, and month 24 in all patients who were participating in the trial. So this was the richest collection of a large number of patients being measured multiple times, systematically and not in just a sub-sample of the population. So, we felt like this was a great opportunity to learn something about what happens. What can you learn when you measure these natriuretic peptides over and over again.                                                 And even more interesting than that, the fact that this wasn't a heart failure trial meant that some of the patients already had heart failure at baseline. Other patients didn't have heart failure, but as the trial went on, they developed or were hospitalized for heart failure for the first time. And so we were able to also look at differences between patients experiencing their first heart failure, versus those with more long standing disease. Dr. Carolyn Lam:               And that was very, very unique methodology that you spoke about. And I fully agree that it's going to be used more. I am staring at your beautiful figure one right now. That really, really says it all. Could you walk us through the results? Dr. Brian Claggett:           Sure, I think our key finding is that, I guess no matter when you measure patients. Patients with a higher level of NT-proBNP, or a higher level of BNP at any given time are going to be at higher risk of developing heart failure in the future.                                                 But as we start looking at this as a temporal process, what we see is that there seem to be a noticeable acceleration in these increases, specifically in the last six months before development of heart failure. Or, before a hospitalization for heart failure. And that increase in the final six months seems to occur both in patients who had no prior history of heart failure and also in patients with a history of heart failure. So that six month window I think is something that we learned that we didn't necessarily know before. Dr. Carolyn Lam:               But, going back to Biykem's questions, do you think we have answers to how often we need to survey natriuretic peptides in these high risk patients and what threshold we need to act on? Dr. Brian Claggett:           I think both are very important. I think maybe the timing and the thresholds are somewhat separate questions. I think we're better able to answer the timing question. At the very least we can say that if dramatic changes are happening over a six month window that measuring patients only once every six months probably isn't enough. Whether that means it needs to be every three months, or two months, or one month, or something more than that, I think it's hard to know exactly what the right answer is. But I think we are confident in saying that things happen relatively quickly and we need to be measuring these things more frequently.                                                 As far as the question of thresholds, I think that's maybe even a more difficult question. Or even the idea of a threshold means that we think that there's some magic number and I am not sure that we know for sure what's more important, the absolute number or is it the ... if someone starts relatively low and that relatively low number doubles over the course of six months. That might still be prognostically just as important as someone who's been consistently edging just below or just about that threshold level.                                                 I'm not sure that we're confident enough to say that the changes, the speed of the changes, or the relative changes, or some absolute threshold is the most important thing to be paying attention to. But, I think where these two are related is the more ... that we can start to collect this data more frequently and be able to analyze it. I think that gives us a lot better chance of being able to successfully answer that question about thresholds. Dr. Carolyn Lam:               Indeed. Stuff for future work, huh? Biykem, what do you think? Dr. Biykem Bozkurt:        I wanted to point out two things from Brian's study which was quite interesting. One is the trajectory of the rise, or the delta changes in the natriuretic peptides was quite different in the patients with no history of heart failure compared to those with a history of heart failure. The trajectory, or the linear rise, or the delta changes were more prominent in the individuals with no history of heart failure. Probably intuitively expected so because their baseline levels are not as high as the individuals with history of heart failure.                                                 So, it almost gives the impression that maybe in low low risk, the screening or the frequency may need to be lower, and if low, then probably the likelihood of the rise may be less. But those individuals who, as you said, are edging upward, then maybe the frequency may need to be higher and there may be perhaps a linear rise or a more prominent rise about six months before the incident event.                                                 So, it's an interesting concept just to look at people's trajectories. But, as you said, probably individualization and monitoring or targeting may need to be individualized according to personal risk and other features. And one then wonders futuristically if this would be a concept that would be point of care testing maybe done by the patients similar to glucose monitoring. And in the event that we were to be able to carry the platform to self-test. Dr. Brian Claggett:           You're talking to a statistician, so I am always going to be in favor of collecting more data all the time. So I agree with that. Dr. Carolyn Lam:               Wow, what an insightful discussion. Thank you both for joining us on this podcast today.                                                 Ladies and gentlemen out there, you heard it right here in Circulation on the Run. Tune in again next week.

For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect with others with the same condition and researchers interested in their particular mutation. We spoke to Michael Bamshad, professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital, and Jessica Chong, one of the leads on the MyGene2 project at the Center for Mendelian Genomics at the University of Washington, about the portal, how it works, and what they are hoping to accomplish. This is an encore of an interview that first aired April 2016.

For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect with others with the same condition and researchers interested in their particular mutation. We spoke to Michael Bamshad, professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital and Jessica Chong one of the leads on the MyGene2 project at the Center for Mendelian Genomics at the University of Washington, about the portal, how it works, and what they are hoping to accomplish.

The gene editing technology known as CRISPR has won recognition as a powerful research tool, but a new study from scientists at The Hospital for Sick Children in Toronto is hailing the technology for its potential therapeutic applications. The study, published in the December 10 online edition of the American Journal of Human Genetics, shows how researchers, for the first time, used CRISPR to remove a duplicated gene from a genome and restored the function in the gene that causes Duchenne muscular dystrophy. We spoke to principal investigator of the study Ronald Cohn, Chief of Clinical and Metabolic Genetics and Co-director of the Centre for Genetic Medicine at SickKids, about the study, the next steps to advance the work, and the potential of the gene editing technology to be used in the treatment of a broad range of genetic diseases.

This podcast provides further insights on mitochondrial pathology resulting from long-term treatment of patients infected with human immunodeficiency virus using cocktails of nucleoside analog reverse transcriptase inhibitors (NRTIs).  The respondent is Dr. Brendan Payne, a clinician at the Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK with an interest in diagnosis and treatment of infectious disease--and specifically human immunodeficiency virus (HIV); Dr. Payne is the senior author of a recent review article, "HIV Treatment and Associated Mitochondrial Pathology: Review of 25 Years of In Vitro, Animal, and Human Studies."  Dr. Payne's research suggests that the cumulative exposure to NRTIs is more important than the peak levels, indicating that the usual design of animal experiments (short terms with high doses, histopathology as a major endpoint) to model human responses may understate or even miss the consequences to patients who may be expected to remain on cocktails of these agents for life.  Dr. Payne describes the utility of various test modalities as potential means for detecting mitochondrial damage when such an outcome is suspected.   Click here to read the full article.  

If you experience any technical difficulties with this video or would like to make an accessibility-related request, please send a message to digicomm@uchicago.edu. “Science and Serendipity” short video explores the role of happenstance and other factors contributing to accidental discoveries. With: Karin D. Knorr Cetina, Otto Borchert Distinguished Service Professor of Anthropology, Sociology and of the Social Sciences in the College; Nancy J. Cox, Ph.D., Professor and Section Chief, Section of Genetic Medicine, Department of Medicine; Professor, Department of Human Genetics; Ron Lipton, Senior Scientist, Fermilab; Peter Littlewood: Director, Argonne National Laboratory; Matt Tirrell, Professor and Founding Pritzker Director of the Institute for Molecular Engineering; and Willard Zangwill, Professor Emeritus, Chicago Booth. The video first aired on May 21, 2014 as part of the ninth in a Series of Joint Speaker events for University Faculty and Argonne and Fermilab Scientists, Researchers and Engineers which took place at the Chicago Innovation Exchange.

If you experience any technical difficulties with this video or would like to make an accessibility-related request, please send a message to digicomm@uchicago.edu. “Science and Serendipity” short video explores the role of happenstance and other factors contributing to accidental discoveries. With: Karin D. Knorr Cetina, Otto Borchert Distinguished Service Professor of Anthropology, Sociology and of the Social Sciences in the College; Nancy J. Cox, Ph.D., Professor and Section Chief, Section of Genetic Medicine, Department of Medicine; Professor, Department of Human Genetics; Ron Lipton, Senior Scientist, Fermilab; Peter Littlewood: Director, Argonne National Laboratory; Matt Tirrell, Professor and Founding Pritzker Director of the Institute for Molecular Engineering; and Willard Zangwill, Professor Emeritus, Chicago Booth. The video first aired on May 21, 2014 as part of the ninth in a Series of Joint Speaker events for University Faculty and Argonne and Fermilab Scientists, Researchers and Engineers which took place at the Chicago Innovation Exchange.

Dr. Sydney Brenner, Senior Distinguished Fellow of the Crick-Jacobs Center at the Salk Institute, talks about his life and career with Dr. Aravinda Chakravarti, Director of the Center for Complex Disease Research at the McKusick-Nathans Institute of Genetic Medicine, part of the Johns Hopkins University School of Medicine, and co-Editor of the Annual Review of Genomics and Human Genetics. Dr. Brenner recounts his early life in South Africa, and how he became interested in molecular biology, came to work with Francis Crick at Cambridge University, proposed the existence of messenger RNA, and studied Caenorhabditis elegans as a model of neural development. The latter earned him the 2002 Nobel Prize in Physiology and Medicine.

Discussion of the paper 'Development of a Performance of Upper Limb module for Duchenne muscular dystrophy'. The contributors in the podcast are as follows: -Dr Anna Mayhew, Consultant Research Physiotherapist at the Institute of Genetic Medicine, University of Newcastle, UK -Prof Andrea Bialocerkowski, Deputy Head of the Learning and Teaching Department, School of Rehabilitation Sciences, Griffith University, Queensland, Australia Read the paper here: http://onlinelibrary.wiley.com/doi/10.1111/dmcn.12213/pdf

with Mark Wu, M.D., Ph.D. and Adam Spira, Ph.D.Dr. Wu is an Assistant Professor in Neurology, Medicine, Genetic Medicine, and Neuroscience Johns Hopkins School of Medicine Dr. Spira is an Assistant Professor in the Department of Mental Health Johns Hopkins Bloomberg School of Public Health, jointly appointed in the Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine Listen to the Podcast Download Transcript

Authors Professor Yanick J Crow(Prof of Genetic Medicine, Manchester University) and Dr Vijeya Ganesan(Senior Lecturer at the Institute of Child Health, London, and Consultant at Great Ormond Street Hospital, London) discuss the bacground of Aicardi-Goutières syndrome and the most recently idenitfied gene, SAMHD1 with Editor In Chief of Developmental Medicine and Child Neurology, Dr Peter Baxter. Please see below for a link to the paper: Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis (p 725-732) VENKATESWARAN RAMESH, BRUNO BERNARDI, ALTIN STAFA, CATERINA GARONE, EMILIO FRANZONI, MARIO ABINUN, PATRICK MITCHELL, DIPAYAN MITRA, MARK FRISWELL, JOHN NELSON, STAVIT A SHALEV, GILLIAN I RICE, HANNAH GORNALL, MARCIN SZYNKIEWICZ, FRANÇOIS AYMARD, VIJEYA GANESAN, JULIE PRENDIVILLE, JOHN H LIVINGSTON, YANICK J CROW PDF: http://www3.interscience.wiley.com/cgi-bin/fulltext/123580141/PDFSTART

Authors Professor Yanick J Crow(Prof of Genetic Medicine, Manchester University) and Dr Vijeya Ganesan(Senior Lecturer at the Institute of Child Health, London, and Consultant at Great Ormond Street Hospital, London) discuss the bacground of Aicardi-Goutières syndrome and the most recently idenitfied gene, SAMHD1 with Editor In Chief of Developmental Medicine and Child Neurology, Dr Peter Baxter. Please see below for a link to the paper: Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis (p 725-732) VENKATESWARAN RAMESH, BRUNO BERNARDI, ALTIN STAFA, CATERINA GARONE, EMILIO FRANZONI, MARIO ABINUN, PATRICK MITCHELL, DIPAYAN MITRA, MARK FRISWELL, JOHN NELSON, STAVIT A SHALEV, GILLIAN I RICE, HANNAH GORNALL, MARCIN SZYNKIEWICZ, FRANÇOIS AYMARD, VIJEYA GANESAN, JULIE PRENDIVILLE, JOHN H LIVINGSTON, YANICK J CROW PDF: http://www3.interscience.wiley.com/cgi-bin/fulltext/123580141/PDFSTART

Dr. Michael Bamshad, Division Chief and Professor, Division of Genetic Medicine, Pediatrics at the University of Washington, explores how evolutionary processes and demographic history have shaped patterns of genetic variation among humans, and how such variation influences differences in physical features and disease susceptibility among humans. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 18707]

Dr. Michael Bamshad, Division Chief and Professor, Division of Genetic Medicine, Pediatrics at the University of Washington, explores how evolutionary processes and demographic history have shaped patterns of genetic variation among humans, and how such variation influences differences in physical features and disease susceptibility among humans. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 18707]

Enhanced Audio PodcastAired date: 1/28/2009 3:00:00 PM Eastern Time

Enhanced Video PodcastAired date: 1/28/2009 3:00:00 PM Eastern Time