POPULARITY
6 episodes with genetic medicine
2 episodes with genetic medicine
3 episodes with genetic medicine
2 episodes with genetic medicine
2 episodes with genetic medicine
2 episodes with genetic medicine
2 episodes with genetic medicine
2 episodes with genetic medicine
2 episodes with genetic medicine
It Happened To Me: A Rare Disease and Medical Challenges Podcast
Happy New Year listeners! We hope you enjoyed the holidays and are off to a wonderful start of 2026! The last episode we released featured our Executive Producer Kira Dineen putting on her genetic counseling hat to explore how genetic counselors can help those in the rare disease community. With how much you all enjoyed that “blast from the past” episode, we thought we would bring you one more before our new episodes of 2026 kick off. So we are continuing on the topic of rare diseases genetics, and revisiting our episode with Amy Patterson, who is a genetic counselor as well. In this conversation she shares with Cathy and Beth about genetic screening and testing available for rare diseases including her speciality of skeletal dysplasia. 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.
Duarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Portugal; Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of Medicine, Pennsylvania, USA; Betul Celik, PhD, Postdoctoral Fellow, Nemours Children's Health, Delaware, USA; and Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of Medicine, Maryland, USA,discuss the principles of theranostics and its application in lysosomal disorders.This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.To obtain CME/CE credit, please visit https://checkrare.com/learning/p-grids2025-session5-theranostics-and-lysosomal-disorders/ Learning ObjectivesDescribe lysosomal and inter-organelle mechanisms that contribute to pathology in lysosomal disorders, and how these pathways are being leveraged for diagnostic and therapeutic applications.Describe current and emerging theranostic strategies for lysosomal disorders.FacultyDuarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of MedicineBetul Celik, PhD, Postdoctoral Fellow, Nemours Children's HealthGregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of MedicineDisclosuresAffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.Duarte C. Barral, PhD Dr. Barral's group receives grant support from Sea4Us.Nuno Raimundo, PhDDr. Raimundo has no relevant financial relationships to disclose.Betul Celik, PhDDr. Celik has no relevant financial relationships to disclose.Gregory Newby, PhDDr. Newby has no relevant financial relationships to disclose.Mitigation of Relevant Financial RelationshipsAffinityCE adheres to the ACCME's Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.Accreditation and Credit DesignationPhysiciansThis activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.Physician AssistantsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.NursesAffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center's Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit.Nurse PractitionersAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.Genetic CounselorsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity.Other ProfessionalsAll other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity. Participation CostsThere is no cost to participate in this activity.CME InquiriesFor all CME policy-related inquiries, please contact us at ce@affinityced.comSend customer support requests to cds_support+ldrtc@affinityced.com
In this informative episode, Dr. Jennie Berkovich is joined by experienced neurologists Dr. Palma and Dr. Lewis, Executive Medical Directors at Eli Lilly and Company. Our guests take this opportunity to share their expert opinion and scientific understanding of Parkinson's disease and how we can anticipate medical interventions changing — possibly within our lifetimes. We explore how our genes, and genetic variants, can influence the onset, symptoms, and severity of Parkinson's disease. We address when genetic testing can be most helpful, who might be at higher risk, and how these discoveries are leading to potential new treatments and personalized care. Dr. Alberto Palma is Executive Medical Director, Early-Phase Development, Neurodegeneration Programs Lead at Eli Lilly and Company.Dr. Travis Lewis is Executive Medical Director at the Institute for Genetic Medicine at Eli Lilly and Company.Both are actively working on gene therapy clinical trials that aim to slow the progression of Parkinson's and its symptoms. DISCLAIMER: This video is sponsored by Eli Lilly and Company and hosted by JOWMA. It is intended for educational purposes only. The content in this video reflects treatment practices in the U.S.; please refer to your local guidelines for more information.Sponsor the JOWMA Podcast! Email admin@jowma.org Become a JOWMA Member! www.jowma.org Follow us on Instagram! www.instagram.com/JOWMA_org Follow us on Twitter! www.twitter.com/JOWMA_med Follow us on Facebook! https://www.facebook.com/jowmaorg Stay up to date with JOWMA news! Sign up for the JOWMA newsletter! https://jowma.us6.list-manage.com/subscribe?u=9b4e9beb287874f9dc7f80289&id=ea3ef44644&mc_cid=dfb442d2a7&mc_eid=e9eee6e41e
In this episode Rafael sits down with Michelle Chen, President and CEO of Form Bio, a techbio company using AI to advance genome engineering and the development of genetic medicines. Michelle shares her zigzag journey from scientist to executive, how her team is tackling the biggest bottlenecks in gene therapy, and why AI has become essential in designing safer, more effective treatments. TPM E51 highlights >Episode 51 links:Michelle Chen on LinkedInForm Bio
For the first time in human history, we can diagnose thousands of genetic diseases—often for under $1,000—but we still can't treat most of them. The problem isn't understanding what's broken; it's delivering the fix to the right cells.Eric Kelsic, CEO of Dyno Therapeutics, joins a16z's Jorge Conde to explain how AI-designed protein shells are solving gene therapy's delivery crisis. They explore why Huntington's patients can now get 15 extra years of healthy life, how Dyno inverted the liver-to-brain delivery ratio by 1000x, and why capsids evolved by nature are now being designed by machine learning models trained on millions of variants.Eric introduces the concept of genetic agency—humanity's first-ever ability to take action at the DNA level—and details why solving delivery for common diseases will make ultra-rare disease treatments economically viable. Plus: what happens when gene therapy requires neurosurgery today but could be a simple injection tomorrow, why recent deaths in clinical trials prove we need better technology now, and how genetic medicine could become as routine as surgery within our lifetimes. Resources:Follow Eric on X: https://x.com/ekelsicFollow Jorge on X: https://x.com/JorgeCondeBioLearn more about GATC 2025: https://www.dynotx.com/gatc2025 Stay Updated:If you enjoyed this episode, be sure to like, subscribe, and share with your friends!Find a16z on X: https://x.com/a16zFind a16z on LinkedIn: https://www.linkedin.com/company/a16zListen to the a16z Podcast on Spotify: https://open.spotify.com/show/5bC65RDvs3oxnLyqqvkUYXListen to the a16z Podcast on Apple Podcasts: https://podcasts.apple.com/us/podcast/a16z-podcast/id842818711Follow our host: https://x.com/eriktorenbergPlease note that the content here is for informational purposes only; should NOT be taken as legal, business, tax, or investment advice or be used to evaluate any investment or security; and is not directed at any investors or potential investors in any a16z fund. a16z and its affiliates may maintain investments in the companies discussed. For more details please see a16z.com/disclosures. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.
Mitochondrial replacement therapy (MRT) offers a revolutionary solution to prevent mitochondrial diseases by combining DNA from three individuals, providing hope for families previously doomed by genetic disorders. With successful trials in the UK, MRT stands at the intersection of groundbreaking science and complex ethical considerations, marking a new era in reproductive medicine. As the technology evolves, it promises to reshape the future of genetic disease prevention and human reproduction.
What compels a scientist to leave academia for the high-stakes world of finance and then become the CEO of a publicly-traded biotech company?In this episode of Oxford+, host Susannah de Jager sits down with Zandy Forbes, the CEO and co-founder of MeiraGTx. Zandy shares her fascinating career journey, explaining how her experience as a hedge fund analyst shaped her unique approach to building a resilient, multi-asset genetic medicine company.They discuss MeiraGTx's pioneering work, from developing a mind-blowing technology that turns the body into a drug manufacturing facility to their successful clinical trials that are changing the lives of patients with inherited blindness, Parkinson's, and other diseases. (00:00) - Welcome to Oxford+ (00:58) - Meet Zandy Forbes: From Academia to CEO (02:08) - Transitioning to Wall Street (03:57) - Discovering the World of Biotech (07:15) - Founding MeiraGTx (09:45) - Innovative Gene Therapy Approaches (13:04) - Breakthroughs in Genetic Medicine (14:46) - Success Stories: Transforming Lives (20:42) - Challenges and Strategies in Biotech (27:47) - Navigating the Public Markets (31:33) - The Future of Biotech in the UK Zandy Forbes: The CEO and co-founder of MeiraGTx, a NASDAQ-listed clinical-stage genetic medicine company. She holds a double first in Natural Sciences from Cambridge University and a PhD in Molecular Genetics from the University of Oxford. Before co-founding MeiraGTx in 2015, she spent over a decade as an analyst and portfolio manager at a healthcare-focused hedge fund.Connect with Zandy on LinkedInSusannah de Jager: Susannah is a seasoned professional with over 15 years of experience in UK asset management. She has worked closely with industry experts, entrepreneurs, and government officials to shape the conversation around domestic scale-up capital.Connect with Susannah on LinkedIn / Subscribe to the Oxford+ Newsletter for exclusive contentOxford+ is hosted by Susannah de Jager and supported by Mishcon de Reya and Oxford North.Produced and edited by Story Ninety-Four in Oxford.
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
AI and genetic medicine are converging to transform how we diagnose, treat, and prevent disease. Gene Yeo, Ph.D., unites RNA biology with artificial intelligence to speed the path from genome sequencing to personalized RNA therapeutics. Advances in sequencing have reduced costs dramatically, making interpretation and translation into treatments the real challenge. Using deep learning and large datasets of RNA-binding proteins, Yeo predicts disease vulnerabilities and identifies therapeutic targets, including in neurodegeneration and muscular diseases. Alexis Komor, Ph.D., focuses on DNA, explaining human genetic variation—particularly single-nucleotide variants—and how genome editing technologies like CRISPR can target them. She highlights strategies to correct harmful mutations and explores precise, programmable interventions. Together, their research drives discovery and enables more effective, personalized therapies. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40459]
Send us a textIn this episode of the Life Science Success Podcast my guest is Amy Pooler, Senior Vice President of Research and Development at Life Edit Therapeutics. With over 20 years of scientific leadership experience in genetic medicine, neuroscience, and drug development, Dr. Pooler brings a wealth of expertise from her impressive career spanning roles at Sangamo Therapeutics, the University of Oxford, and Harvard Medical School.00:00 Introduction to Life Science Success Podcast00:34 Guest Introduction: Amy Pooler01:06 Amy's Journey into Life Sciences02:10 Early Career and Influences04:49 Leadership Roles and Challenges09:44 Joining Life Edit Therapeutics11:30 The Future of Genomic Medicine13:15 Role and Responsibilities at Life Edit Therapeutics19:10 Partnerships and Collaborations26:27 Leadership Insights and Advice33:27 Conclusion and Final Thoughts
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.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
“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.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
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
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.
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.
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/
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.
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