Podcasts about Medical genetics

Today we are joined by a remarkable guest, Dr. Trenna Sutcliffe, a board-certified developmental-behavioral pediatrician and the founder of the Sutcliffe Clinic in the San Francisco Bay Area. Her educational history is impressive. She completed her undergraduate education in Molecular Biology and Medical Genetics followed by a masters degree in Biophysics at The University of Toronto. She obtained her Medical degree at McMaster University before her pediatric residency and training finished at the Hospital for Sick Children in Toronto. And oh by the way, she then did a year of pediatric Neurology residency and a Fellowship in Developmental Pediatrics. And finally, another Masters degree in Epidemiology at Stanford University. Thus, her educational path has allowed her to see the developmental landscape through a wider lens covering many disciplines. Dr. Sutcliffe started the first Developmental Pediatrics Clinic at Stanford and played the role of trailblazer throughout her career. With over 25 years of experience, Dr. Sutcliffe specializes in supporting children with autism, ADHD, and anxiety, offering a multidisciplinary approach to diagnosis and treatment. In this episode, she'll share her insights on the rising prevalence of these conditions, the importance of personalized care, and practical strategies for parents navigating developmental challenge. Fundamentally, Dr. Sutcliffe is a going to educate us on a better way to deliver whole person care to the developmentally challenged and beautiful children of this country. Two words encapsulate her work: empowering and thoughtful. Let's dive into this conversation with Dr. Sutcliffe to learn how we can help our children thrive! Dr. M

In this episode we feature 2 articles that explore hot topics in genetics as well as opportunities to improve patient care in honor of DNA Day on April 25. DNA day commemorates the completion of the Human Genome Project and the discovery of DNA's double helix. Both of these studies utilize qualitative methodologies to highlight people's experiences and share their stories. Segment 1: Not Parent Expected” results through direct-to-consumer genetic testing Julia Becker (she/her) is a board-certified genetic counselor and CSU Stanislaus Genetic Counseling Program graduate. She has a strong interest in the ethical, psychological, and social implications of genetic testing, particularly in the context of unexpected parentage discoveries. Julia is the first author of the article, "Experiences of Individuals Receiving ‘Not Parent Expected' Results Through Direct-to-Consumer Genetic Testing," published in the Journal of Genetic Counseling. She presented this research at the American College of Medical Genetics and Genomics (ACMG) Annual Conference in 2021, contributing to the ongoing dialogue on the impact of unexpected genetic findings. Her work focuses on supporting individuals navigating complex genetic discoveries and advancing awareness within the genetic counseling community. In this segment we discuss: - The rise in Not Parent Expected (NPE) discoveries through direct-to-consumer genetic testing and what it means to receive this result. - Key emotional themes from interviews with 25 participants, including identity disruption, grief without death, and shifting family dynamics. - How a background in genetic counseling informed a sensitive and in-depth interview approach. - The emotional motivations behind seeking out biological relatives and the varied outcomes of those efforts. - The need for improved informed consent and follow-up care from DTC companies.   Segment 2: Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children's Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel's Maternal Fetal Medicine Center. Darius  Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity. In this segment we discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices. Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.  For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.  Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.  DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Guest: Grant Gottgetreu, Former traffic officer, now a forensic criminal and traffic consultant at Forensic-traffic-pro.com Guest: Dr. Marco Marra, UBC Professor of Medical Genetics and the Michael Smith Laboratories, and Distinguished Scientist at BC Cancer Guest: Adriane Gear, President, BC Nurses Union Learn more about your ad choices. Visit megaphone.fm/adchoices

In this episode, we begin by discussing the counselling issues and interventions raised in episode 1: Ethical Conflicts. We'll then present this week's case, where the genetic counsellor encountered countertransference. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/  You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Crook, et al., (2022). Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences. Journal of Genetic Counseling,  https://doi.org/10.1002/jgc4.1591   Crook, et al., (2021). Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: A systematic scoping review. Alzheimer Disease & Associated Disorders https://doi.org/10.1097/WAD.0000000000000458   May & Spellecy, (2006). Autonomy, full information and the right not to know. European journal of health law, 6(2), 119-132 World Health Organisation Meeting on Ethical Issues in Medical Genetics (‎1997: Geneva, Switzerland)‎ & WHO Human Genetics Programme. (‎1998)‎. Proposed international guidelines on ethical issues in medical genetics and genetic services: report of WHO meeting on Ethical Issues in Medical Genetics. https://iris.who.int/handle/10665/63910. Vears et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Pre-symptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics.https://doi.org/10.1017/thg.2020.51

Following the 2024 Marginal Zone Lymphoma (MZL) Workshop, CancerNetwork® spoke with multiple attending clinicians about insights they shared regarding the disease state, covering the significance of the workshop and its contribution to advancing research in areas such as prognostic factors and managing adverse events (AEs) related to the disease. Thomas Habermann, MD, professor of Medicine at the Mayo Clinic in Rochester, Minnesota, member of the Lymphoma Research Foundation's Scientific Advisory Board, and MZL Workshop co-chair, spoke about the significance of the MZL Workshop. He highlighted the complexity of these types of diseases, which he believed warranted the establishment of the group. According to Habermann, MZL is a “heterogenous group of disorders” that most contemporaries in the field “don't quite appreciate.” Next, Julie M. Vose, MD, MBA, George and Peggy Payne chair in oncology and chief of Hematology and Oncology at the University of Nebraska Medical Center, and co-editor-in-chief of ONCOLOGY®, spoke about how the MZL Workshop contributes to advancing research and improving outcomes for patients with MZL. She emphasized a need to be more inclusive when enrolling patients with MZL in clinical trials. Then, James R. Cerhan, MD, PhD, professor of Epidemiology at the Mayo Clinic College of Medicine and Science, and Ralph S. and Beverly Caulkins Professor of Cancer Research, spoke about addressing research questions in MZL epidemiology to further disease understanding. He emphasized a need to further study newly identified risk factors of the disease, as well as identifying new treatment targets for patients with MZL. Additionally, Alexandar Tzankov, MD, surgical pathologist and head of the Department of Histopathology and Autopsy at the Institute of Medical Genetics and Pathology at University Hospital Basel, and chair for the European Bone Marrow Working Group, discussed how prognostic factors for MZL may influence treatment. He described how the limited number of studies done with relatively small subsets of patients makes prognoses challenging, as prognostic factors have not been sufficiently explored. Finally, Andrew D. Zelenetz, MD, PhD, medical director of Quality Informatics at Memorial Sloan Kettering Cancer Center, outlined challenges related to AE management of treatments for MZL. He emphasized that safety management practices for MZL are comparable with other B-cell lymphomas, suggesting that use of bridging therapy for CAR T cells and step-up dosing for bispecific antibodies may help with mitigating AEs.

Welcome to season 4 of GC Chat Podcast! In this episode, we introduce our first case of the season, which raised several ethical issues for the genetic counsellor. Reflections will follow in our next episode.  Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/  You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Gould & Griffin (2017). Karyomapping and how is it improving preimplantation genetics? Expert Rev Mol Diagn. https://doi.org/10.1080/14737159.2017.1325736. Handyside et al., (2010). Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes, Journal of Medical Genetics. https://doi.org/10.1136/jmg.2009.069971 National Health and Medical Research Council (NHMRC) (2017). Ethical guidelines on the use of assisted reproductive technology in clinical practice and research 2017 (updated 2023). Canberra: National Health and Medical Research Council. www.nhmrc.gov.au/guidelines-publications/e79   

Be sure to tune in to this episode of the Precision Health and PGX Podcast as Dr. Becky Winslow, CEO of inGENEious RX Incorporated Pharmacogenomics Consulting, and Dr. Megan Landsverk, Scientific Director of MolDX® and Chief Science Officer of Palmetto GBA®, discuss how laboratories may overcome the challenges they face earning MolDX® coverage and reimbursement for their clinical pharmacogenomics tests. Specific to coverage determinations, the PGx veterans discuss test design, post-genotype translations, and technical assessments. Specific to reimbursement, the duo discusses evidence-based reporting and complete claim submissions. Also discussed is the importance of labs clearly defining intended use populations for tests and academic partnerships importance when labs develop and validate panels including drug-gene pairs the Clinical Pharmacogenetics Implementation Consortium and the United States Food and Drug Administration does not recognize as clinically utile for managing medications. Dr. Megan Landsverk is a Science Officer for Palmetto GBA, a Medicare Administrative Contractor (MAC) and a Science Director for the Molecular Diagnostic Services (MolDX) program developed to identify and establish coverage and reimbursement for molecular diagnostic services on behalf of Medicare. Dr. Landsverk received her PhD in Biochemistry and Molecular Biology from Baylor College of Medicine and postdoctoral training in Medical Genetics at the University of Washington. She is a board-certified Molecular Geneticist, completing her molecular genetics fellowship at Baylor College of Medicine. She has held multiple academic faculty positions and has numerous publications in the field of genetics. Prior to joining Palmetto, she served as a clinical laboratory director in academic, hospital, and commercial clinical laboratories and has experience in several genetic specialties including rare disease (pediatric and adult), cancer (somatic and inherited), and pharmacogenetics.

Be sure to tune in to this episode of the Precision Health and PGX Podcast as Dr. Becky Winslow, CEO of inGENEious RX Incorporated Pharmacogenomics Consulting, and Dr. Megan Landsverk, Scientific Director of MolDX® and Chief Science Officer of Palmetto GBA®, discuss how laboratories may overcome the challenges they face earning MolDX® coverage and reimbursement for their clinical pharmacogenomics tests. Specific to coverage determinations, the PGx veterans discuss test design, post-genotype translations, and technical assessments. Specific to reimbursement, the duo discusses evidence-based reporting and complete claim submissions. Also discussed is the importance of labs clearly defining intended use populations for tests and academic partnerships importance when labs develop and validate panels including drug-gene pairs the Clinical Pharmacogenetics Implementation Consortium and the United States Food and Drug Administration does not recognize as clinically utile for managing medications.  Dr. Megan Landsverk is a Science Officer for Palmetto GBA, a Medicare Administrative Contractor (MAC) and a Science Director for the Molecular Diagnostic Services (MolDX) program developed to identify and establish coverage and reimbursement for molecular diagnostic services on behalf of Medicare. Dr. Landsverk received her PhD in Biochemistry and Molecular Biology from Baylor College of Medicine and postdoctoral training in Medical Genetics at the University of Washington. She is a board-certified Molecular Geneticist, completing her molecular genetics fellowship at Baylor College of Medicine. She has held multiple academic faculty positions and has numerous publications in the field of genetics. Prior to joining Palmetto, she served as a clinical laboratory director in academic, hospital, and commercial clinical laboratories and has experience in several genetic specialties including rare disease (pediatric and adult), cancer (somatic and inherited), and pharmacogenetics.

In this JCO Precision Oncology Article Insights episode, Miki Horiguchi summarizes two articles: “Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening,” by Dr. Kate I. Glennon et al. published on August 01, 2024, and "Incidental Pathogenic Variants in Renal Cell and Urothelial Carcinoma: Is It Time for Universal Screening?” by Dr. Salvador Jaime-Casas, et al. published on August 01, 2024. TRANSCRIPT Miki Horiguchi: Hello and welcome to JCO Precision Oncology Article Insights. I'm your host Miki Horiguchi, an ASCO Journal's Editorial Fellow. Today, I'll be providing summaries of the article titled, "Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening,” by Dr. Kate Glennon and colleagues. In the accompanying editorial titled, “Incidental Pathogenic Variants in Renal Cell and Urothelial Carcinoma: Is It Time for Universal Screening?” by Dr. Salvador Jaime-Casas and colleagues. Renal cell carcinoma (RCC) exhibits distinct clinical characteristics across its histological subtypes. Clear cell RCC accounts for approximately 75% of cases while the remaining non-clear cell RCC encompasses a diverse group of histology. Although a family history has been known to double the risk for RCC, genetic susceptibility, particularly across different histological subtypes and defined operations, has not been investigated well. Dr. Glennon and colleagues sought to identify risk genes for RCC within the Canadian population and investigate their clinical significance in comparison to cancer-free control populations. The authors conducted targeted sequencing of 19 RCC related genes and 27 cancer predisposition genes for 960 RCC patients in Canada. DNA samples were collected through the Ontario Tumour Bank between 2005 and 2019. For comparisons across histological subtypes, the cohort was divided into 759 patients with clear cell RCC and 201 patients with non-clear cell RCC, including all histological subtypes other than clear cell RCC. Non-cancer control data were obtained from a publicly available database which included over 118,000 cases from the European population. A total of 39 different germline pathogenic variants were identified in 56 patients representing 5.8% of the Canadian cohort. There was no significant difference in the overall number of germline pathogenic variants between the two groups. The most commonly identified germline pathogenic mutations were CHEK2, ATM/BRCA2 and MITF in the clear cell RCC group, and FH and CHEK2 in the non-clear cell RCC group. Compared to the non cancer control data, germline pathogenic variants in CHEK2 and ATM were significantly associated with an increased risk of developing clear cell RCC, while those in FH were significantly associated with non clear cell RCC. According to the bivariate association analysis between the presence of germline pathogenic variants and clinical characteristics, patients with metastatic RCC were strongly associated with pathogenic variants in BRCA1, BRCA2, and ATM. No other significant associations were observed. The authors then evaluated variations in germline pathogenic variants among RCC patients across the world using similar studies conducted in Canada, Japan, the United Kingdom, and the United States. Specifically, they compared the gene burden for significantly mutated genes in each of the cohorts against all other cohorts combined. Compared to the other cohorts, RCC patients from Japan were enriched for pathogenic variants in TP53 and depleted for pathogenic variants in CHEK2. The United States cohorts showed higher frequencies of patients with pathogenic variants in BAP1 and FH genes compared to other cohorts. In contrast, RCC patients from Canada and the United Kingdom were not enriched for any specific genes when compared with the other cohorts. After characterizing germline susceptibility to RCC, the authors evaluated how many of the RCC patients in the Canadian cohort did not meet existing referral criteria for genetic screening based on current clinical guidelines, aiming to help refine these guidelines. Among the 56 RCC patients with identified germline pathogenic variants in the Canadian cohort, 73% did not meet the referral criteria for genetic screening under current Canadian guidelines. The authors also applied the UK guidelines and the US American College of Medical Genetics guidelines to the same 56 RCC patients. Under these criteria, 80% and 64%, respectively, were not eligible for genetic screening. In an exploratory analysis, the authors examine the impact of raising the Asia onset threshold from less than 45 years to less than 50 years. This revision captured an additional five patients with pathogenic variants. In addition to more inclusive genetic screening guidelines, the study results suggest that expanding the current list of genes to include additional relevant genes such as BRCA1, BRCA2, CHEK2 and ATM could help identify more RCC patients who are affected by rare germline pathogenic variants in Canada. The authors concluded that these revisions would enable the identification of a higher number of at-risk patients and improve the management of RCC patients. In the associated editorial accompanying this research article, Dr. Salvador Jaime-Casas and colleagues emphasized that the findings from Dr. Glennon and colleagues' study are particularly worrisome as most RCC patients with incidental pathogenic variants are not being referred for genetic screening. Building on results from previous studies, the authors suggested the need to revisit and update the current screening guidelines for RCC patients. The authors also highlighted findings from other studies showing the prevalence of pathogenic variants in CHECK2, BRCA1, and BRCA2 at up to 6% in RCC patients and 11% in upper tract urothelial carcinoma patients. They noted that these rates are comparable to those of ovarian cancer and pancreatic cancer, which already have universal screening guidelines. The authors also discuss some challenges. While the prevalence of pathogenic variants is crucial for evaluating the impact of germline genetic testing, it's only one factor in devising screening guidelines for RCC and urothelial carcinoma. They emphasize the need for robust clinical trials to evaluate therapeutics targeting these pathways, as well as the importance of characterizing incidental pathogenic variants to guide patient selection for these trials. Thank you for listening to JCO Precision Oncology Article Insights and please tune in for the next topic. Don't forget to give us a rating or review and be sure to subscribe so you never miss an episode. You can find all ASCO shows at asco.org/podcasts.   The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.

I am joined in this episode by neurologist Thomas Bird to discuss his long professional experience of managing Huntington's disease.Thomas Bird is Professor Emeritus of Neurology and Medical Genetics at the University of Washington in Seattle. He was previously Chief of Neurology at the Seattle VA Medical Center, and founder of the Neurogenetics Clinic at the University of Washington. He was also former director of the Huntington's disease Centre at University of WashingtonWe discussed the diverse manifestations of the disease, from chorea to impaired judgement to psychosis. With anecdotes from the book, we also reviewed the links between the disease and criminality, and with increased socioeconomic vulnerability and trauma. Dr Bird also highlighted the unusual manifestations of the disease in children, and the similarity of the pathogenesis to other neurodegenerative diseases such as motor neurone disease and Alzheimer's disease.Our discussion also covered the genetic testing of the disease, particularly highlighting the ethical conundrums leading up to the testing, and the uncertainties that the test result throws up. Other themes we covered are the therapeutic and preventative prospects for Huntington's disease, and the need for society to understand and support people with the disease.

Guests include Megan Cho to discuss her paper, “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies” as well as Amanda Polanski and Ashley Kuhl to discuss their paper, “Leadership development in genetic counseling graduate programs.”   In this episode we discuss clinical training by exploring papers that discuss clinical simulation and leadership development. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies”   Megan is the Associate Director of the Johns Hopkins/NIH genetic counseling training program.  Prior to that, as the Research Program Manager at GeneDx, she created and led a team working to discover and describe rare genetic disorders.  Megan has practiced clinically at Columbia/New York Presbyterian Hospital and was also adjunct teaching faculty at the Sarah Lawrence College genetic counseling program.  She serves as the Co-Chair of the GCEA Education Committee, past Chair of the NSGC Outcomes Committee, past Chair of the NSGC Research Special Interest Group, and has been a member of various task forces including the NSGC Research Task Force and the ACGC Practice Based Competencies task force.   In this segment we discuss:  Challenges posed by standardized tests in ensuring equity. Alternative methods proposed in the article for assessing competence in new genetic counseling graduates and trainees. Contrasts between formative and summative assessments in simulation-based education. Differences in assessment difficulty and methodology between genetics knowledge and counseling competence. Barriers and challenges in implementing simulation in large-scale certification exams in other fields.   Segment 2 “Leadership development in genetic counseling graduate programs”   Amanda Polanski is a certified genetic counselor at Minnesota Perinatal Physicians. She graduated from the University of Wisconsin-Madison Master of Genetic Counselor Studies program in 2023, and her research focused on characterizing the role of leadership development in genetic counseling graduate programs. Previously, she has done research on identification and diagnosis of familial hypercholesterolemia through the University of Minnesota. She currently enjoys providing compassionate and inclusive care to prenatal patients alongside other dedicated providers.   Ashley Kuhl, MS, CGC, is the Assistant Program Director at the Master of Genetic Counselor Studies program at the University of Wisconsin-Madison and an assistant professor (CHS) in the Department of Pediatrics. She enjoys working with genetic counseling and other health professions learners in various capacities and with patients and families in the UW Biochemical and Medical Genetics clinics at the Waisman Center. She began her clinic work in 2013 after completing her master's degree in Medical Genetics from the UW-Madison Genetic Counseling Training Program.   In This Segment  We Discuss: Enhancement of genetic counselors' impact through leadership skills. Importance of intentional leadership development in advocating for patients and the profession, and the role of genetic counseling in broader healthcare advocacy efforts. The variation in the definition and understanding of leadership among program leaders, and its impact on leadership development within genetic counseling (GC) programs. Role of faculty in driving leadership development and effective strategies employed to instill leadership skills in GC students. Identification of current leadership development as a top area for improvement and actionable steps for programs to address this gap.   [Plug guest website and SM]   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian.   

Host: Denise M. Dupras, M.D., Ph.D. Guest: Margot A. Cousin, Ph.D. This episode of Genes & Your Health provides a comprehensive look at how ASO (Antisense Oligonucleotide) therapy is paving the way for personalized medicine and offering new hope for patients with previously untreatable conditions. Margot A. Cousin, Ph.D., an Assistant Professor of Medical Genetics in the Department of Molecular Medicine and Director of the N-or-1 Therapeutics Program in the Center for Individualized Medicine, walks us through an overview of what antisense oligonucleotides are and how they work.  We then discuss clinical applications, success stories, and potential new applications to transform treatment approaches.  Connect with the Mayo Clinic's School of Continuous Professional Development online at https://ce.mayo.edu/ or on Twitter @MayoMedEd. 

Gerard Vockley, MD, PhD, is an internationally recognized leader in medical genetics and the field of inborn errors of metabolism. He joined Children's Hospital of Pittsburgh as chief of the Division of Medical Genetics in 2004 and was named professor of pediatrics at the University of Pittsburgh School of Medicine and professor of human genetics at the university's Graduate School of Public Health.

In this episode, Ayesha spoke with Karen S. Ho, PhD, Vice President, Translational Medicine at Clene Nanomedicine, a biopharmaceutical company focused on developing treatments for neurodegenerative diseases to restore and protect neuronal health and function. Clene Nanomedicine is developing nanotherapeutics that target cellular energy impairments common to neurodegenerative and many other diseases. Specifically, the company's lead asset is based on leveraging the catalytic therapeutic activities of gold when engineered as clean-surfaced faceted nanocrystals. At Clene Nanomedicine, Dr. Ho directs the translation of preclinical successes of Clene's lead drug assets into high clinical value with applicability to multiple disease areas. Dr. Ho has a PhD in Developmental Biology from Stanford and completed her postdoctoral training as a National Sleep Foundation Pickwick Scholar and Howard Hughes Medical Institute Postdoctoral Fellow at University of Pennsylvania in the Department of Neuroscience. Dr. Ho serves on several rare disease group Scientific Advisory Boards and holds a concurrent position as adjunct faculty at the University of Utah School of Medicine in the Department of Pediatrics, Division of Medical Genetics. Tune into the episode to learn about Clene Nanomedicines' innovative gold nanocrystal technology and how Dr. Ho is leading its development in diseases like ALS and Multiple Sclerosis. Also hear about Dr. Ho's journey in the biopharmaceutical industry, including a touching personal story. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/ Follow Us on Social Media Twitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

Dr. Caleb Bupp. In my opinion. A scientific star.  He is a most humble human, but has every right to brag, but he never would. I do believe he's a genius.  You will love this podcast.  We talk about rare disease, his family and how he discovered and helped families who had no rare disease answers, until they met him! An absolute scientific rock star.  I met Dr. Bupp at a MichiBio event that introduced legislators, advocates and doctors to one another.  One of the best events I have attended and now I can follow Dr. Bupp and watch him change the medical world.Here are his stats: Caleb Bupp, MD, FACMG – Division Chief, Medical Genetics and Genomics.  Dr. Caleb Bupp is a pediatric trained, board-certified medical geneticist with Corewell Health Helen DeVos Children's Hospital in Grand Rapids, Michigan. He serves as the Division Chief of Medical Genetics and Genomics.  He is also an assistant professor at Michigan State University.  He co-discovered a treatable genetic syndrome caused by ODC1 mutations now termed Bachmann-Bupp syndrome and is the clinical director of the International Center for Polyamine Disorders.  This was recently recognized by the New York Intellectual Property Law Association as their ‘Inventor of the Year' for his patent related to this condition.  He helped create and run Project Baby Deer, a statewide initiative to provide access to rapid whole genome sequencing which resulted in Michigan Medicaid being the first to create an approval and carve-out payment policy. Dr. Bupp helped form the Rare Disease Network which provides support and education throughout Michigan. Dr. Bupp received his Bachelor of Science in molecular biology from Grove City College in Grove City, Pennsylvania and his medical degree from the University of Toledo College of Medicine in Ohio.  He completed pediatrics residency at the University of Louisville in Kentucky and his medical genetics training at the Greenwood Genetic Center in South Carolina.Cheers to science and innovation.  Please like, subscribe, and comment on our shows, wherever you get your podcasts.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Thanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

 Robert Green is a professor of genetics at Harvard Medical School. He's the director of Genetics Research at Brigham and Women's hospital and the co-founder of Nurture Genomics, where they're doing genomic screening for infants to detect and mitigate actionable genetic conditions. If you don't understand what that means, you're in the right place because we have a long conversation, digging into that topic and picking it apart for your understanding. This is a super exciting frontier for medicine. We are at a point where we know the science, and we know how to sequence a genome. We know how to correlate some of those things that we see in the genetic code to actual health problems that are predictive. Some of this is just a bug in the code that causes you to get some kind of cancer or other degenerative disease. We know it's there and in a lot of cases, we actually know what to do about it. There is no systematic screening for people, much less for infants. That's what Robert's trying to solve. This is very important, very exciting stuff and It will change the future of how we take care of people and prevent genetic diseases from disrupting their lives and taking their lives. You want to know about this. This is a great conversation. He's very good at explaining what's been found in the science and how they're implementing it. Enjoy! Important Links: G2P Nurture Genomics Harvard Medical School Brigham and Women's Hospital About Robert Green Robert C. Green, MD, MPH is a medical geneticist and physician-scientist who directs the G2P Research Program in translational genomics and health outcomes in the Division of Genetics at Brigham and Women's Hospital and Harvard Medical School. Dr. Green is currently Associate Director for Research of the Partners Center for Personalized Genetic Medicine, a Board Member of the Council for Responsible Genetics and a member of the Informed Cohort Oversight Boards for both the Children's Hospital Boston Gene Partnership Program and the Coriell Personalized Medicine Collaborative. He was the lead author of the recently published recommendations from the American College of Medical Genetics and Genomics for management of incidental findings in clinical sequencing.

In this episode of the Medicine Grand Rounders, Dr. Alsadah takes a deep dive into the world of medical genetics and the utility of whole genome sequencing as a model of care.

This episode is hosted by Josie Baker, MS, LGC, and features Jeremy Davis, MD, a National Cancer Institute (NIH) surgical oncologist.Together, they discuss Dr. Davis' recent article published in the Journal of Medical Genetics  titled “Decision-making and regret in patients with germline CDH1 variants undergoing prophylactic total gastrectomy.”This podcast was released during  Patient Experience Week.   Read our blog post to learn more about this podcast HERE

In this episode of Causes or Cures, Dr. Eeks chats with Dr. Erica Fernandes about the identification of a new syndrome linked to fentanyl exposure while in the womb. Dr. Fernandes first discusses how a new syndrome related to developmental or genetic abnormalities is identified and then explains how they carried out their study at Nemours Children's Hospital. She discusses the specific characteristics identified in the babies enrolled in their study and how fentanyl was identified as the common exposure. She explains how other known syndromes were ruled out and discusses ongoing research to determine how exactly fentanyl causes the new syndrome. Finally, she offers next steps in terms of informing the public and public health. Dr. Fernandes is a practicing physician and researcher in the division of medical genetics at Neymours Children's Health. Her and her team's study on the new syndrome was recently published here in Genetics in Medicine Open. You can contact Dr. Eeks at bloomingwellness.com.Follow Dr. Eeks on Instagram here.Or Facebook here.Or TikTokOr Twitter.Or Youtube.Subscribe to her newsletter here!Support the show

Drs Michelle Kittleson and Evan Kransdorf talk about when to test, how genetic testing should be interpreted, and what to do with the results. Relevant disclosures can be found with the episode show notes on Medscape (https://www.medscape.com/viewarticle/997316). The topics and discussions are planned, produced, and reviewed independently of advertisers. This podcast is intended only for US healthcare professionals. Resources Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The Dilated Cardiomyopathy Precision Medicine Study https://pubmed.ncbi.nlm.nih.gov/35240856/ Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/35103767 Family Heart Talk https://dcmproject.com/family-heart-talk/ Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial https://pubmed.ncbi.nlm.nih.gov/36938756/ Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study https://pubmed.ncbi.nlm.nih.gov/37641966/ Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology https://pubmed.ncbi.nlm.nih.gov/25741868/ Implications of Genetic Testing in Dilated Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/32880476/ Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/36109106/ Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives https://pubmed.ncbi.nlm.nih.gov/37225358/

On this episode, Drs. Blair Bigham and Mojola Omole discuss the CMAJ paper "Cost-effectiveness of pharmacogenomic-guided treatment for major depression". The paper examines the potential of pharmacogenomic testing in the treatment of major depression and its implications for health care costs.The study suggests that implementing pharmacogenomic testing for adults with moderate to severe major depressive disorder in British Columbia could save the health system about $956 million over 20 years, equating to roughly $4,926 per patient.The hosts interview the study's authors, Dr. Jehannine Austin, Professor of Psychiatry and Medical Genetics at UBC, and Dr. Shahzad Ghanbarian, a mathematical modeler and research scientist, also at UBC.They explain how pharmacogenomic testing can reduce the often lengthy trial and error process of selecting medication for depression. The study demonstrates that this approach facilitates more effective early intervention, potentially reducing the number of patients with refractory depression by 37%. Join us as we explore medical solutions that address the urgent need to change healthcare. Reach out to us about this or any episode you hear. Or tell us about something you'd like to hear on the leading Canadian medical podcast.You can find Blair and Mojola on Twitter @BlairBigham and @DrmojolaomoleTwitter (in English): @CMAJ Twitter (en français): @JAMC FacebookInstagram: @CMAJ.ca The CMAJ Podcast is produced by PodCraft Productions

Medical genetics may be able to help us better predict the risk of type 2 diabetes, and maybe even how to modify risk. Dr. William Gibson discusses his research in this area, as well as what he has learned from studying the genetics behind very unique forms of diabetes.Dr. Gibson is an Investigator at the BC Children's Hospital, a Senior Clinician Scientist at the Laboratory for Obesity Genetics and Indirect Calorimetry (LOGIC) at BC Children's Hospital Research Institute. In addition, he is a Professor in the Department of Medical Genetics, Faculty of Medicine at the University of British Columbia.

It's been 20 years since the untimely death of actor and comedian John Ritter, star of Three's Company among many other TV shows and movies. John passed away with what was ultimately diagnosed as Aortic Dissection - a life-threatening condition in which a tear occurs in the inner layer of the aorta, the body's main artery. Dr. Jeanine Cook-Garard speaks with John Ritter's wife, Amy Yasbeck, an actress and the founder of The John Ritter Foundation for Aortic Health, and Dr. Dianna M. Milewicz, the President George H.W. Bush Chair of Cardiovascular Medicine, Director of the Division of Medical Genetics and Vice-Chair of the Department of Internal Medicine at the University of Texas Health Science Center at Houston McGovern Medical School. Together, they are here to discuss Aortic Dissection and the vital work that The John Ritter Foundation does, which was created by Amy in his honor.

Host: Denise M. Dupras, M.D., Ph.D. Guest: Jennifer L. Kemppainen, M.S., CGC With increased availability and accessibility of genetic testing, genetic counselors are playing a critical role in helping patients understand family and medical histories and genetic indications and conditions that may impact them or their loved ones. How do genetic counselors help patients to feel comfortable and understand the often-confusing world of genetic testing? Learn more in this episode of Mayo Clinic's Center for Individualized Medicine Genes & Your Health podcast miniseries featuring Jennifer L. Kemppainen, M.S., CGC, Supervisor of Genetic Counselors and Assistant Professor in Medical Genetics at Mayo Clinic in Minnesota. Connect with the Mayo Clinic's School of Continuous Professional Development online at https://ce.mayo.edu/ or on Twitter @MayoMedEd. 

On the third and final episode in our series on child suicide prevention, we discuss the spike in suicidality among our LGBTQIA+ youth, as reported in 2023 by the Centers for Disease Control & Prevention, as well as The Trevor Project. David Rosenthal, DO, PhD, and Helena Roderick, PhD, highlight the many challenges negatively impacting these kids, including minority stress, discrimination and unconscious bias, and how each contributes to this horrifying trend. They share what individuals and community institutions can do to help curb the high rates of suicidal ideation and behaviors. More about the experts: David Rosenthal, DO, PhD, is founding medical director for Northwell Health's Center for Transgender Care and medical director for Northwell's Center for Young Adult, Adolescent, and Pediatric HIV. Helena Roderick, PhD, is senior psychologist for the Center for Transgender Care and the Center for Young Adult, Adolescent, and Pediatric HIV and the Division of Medical Genetics. Our team launched this series during National Suicide Prevention Month in September to offer parents and caregivers a resource as they navigate this very difficult reality, particularly as children return to school. Listen to the previous episodes in this series: Kids in crisis: How to start the conversation about child suicidality featuring Vera Feuer, MD, director of Emergency Psychiatry Services at Cohen Children's Medical Center YourMomCares about how you feel, featuring Sharon Feldstein, co-founder and CEO of YourMomCares, and Robin Paul, member and "Power Mom. NYS Schools update Learn more about the 2023 update to New York Schools best practices: Creating a Safe, Supportive, and Affirming School Environment for Transgender and Gender Expansive Students Resources for families The Trevor Project is a nonprofit focused on suicide prevention efforts among LGBTQ youth. Reach a counselor 24/7. Call 1-866-488-7386 or text 678-678 PFLAG is the nation's largest organization dedicated to supporting, educating, and advocating for LGBTQ+ people and those who love them. Find a support group. American Academy of Child & Adolescent Psychiatry provides education for families including what to expect when you have to go to the emergency department and how to handle suicidality in children. American Academy of Pediatrics provides education on various topics including mental health. National Alliance on Mental Illness (NAMI) – has local chapters in each state, which offer a wealth of resources to get connected to treatment, support and education.

Ladies and gentlemen, get ready to be inspired by an incredible force of positive change! We are thrilled to introduce you to Cathy Derksen, the visionary founder of Inspired Tenacity Global Solutions Inc. Cathy is a disruptor and catalyst on a mission to transform the lives of women in her community and around the world. With unwavering dedication, Cathy empowers women to rediscover their brilliance, find their voices, and step into new possibilities in their lives. She's not just an international speaker and 11-time #1 bestselling author; Cathy's stories ignite a fire within readers, inspiring them to take leaps of faith toward their biggest goals. But that's not all! Cathy has created a platform that champions women, providing them with the space to share their own inspiring stories and wisdom through collaborative books. A decade ago, Cathy made a remarkable career shift, transitioning from 25 years in Medical Genetics to financial planning, all in the pursuit of helping women achieve personal success. Throughout her journey, Cathy has continually followed her passion for learning, earning certifications in counselling, success principles, and strategies for overcoming limiting beliefs and mindset. She has blended her skills and embraced personal evolution at every turn. After more than a decade as a financial planner, Cathy boldly left her corporate job to establish Inspired Tenacity, focusing on helping women create success on their own terms. Beyond her professional achievements, Cathy is a loving mother of two (29 and 30 years old) and has two furry companions by her side. She resides near the beautiful city of Vancouver, Canada.Cathy finds her joy in spending time in nature, exploring new places, meeting incredible people, and nurturing her global community. Her ambitious goal for 2023? To create at least 5 new collaborative books that will continue to inspire and empower. So, join us for a journey of inspiration, empowerment, and transformation as we explore the incredible life and work of Cathy Derksen. Stay tuned for her podcast episode! If you are ready to fast track your next success chapter, grab your free trial of Women's Biz Global womensbizglobal.com --- Send in a voice message: https://podcasters.spotify.com/pod/show/womensbizglobal/message

 What causes autism? Why are there so many more boys than girls with autism? And why is it so important to make sure that children with autism have genetic testing?  We discuss this with our guest, Dr. John N. Constantino, child and adolescent psychiatrist and international expert in Autism Spectrum Disorder.* Boys tend to be more sensitive than girls to genetic risk for autism.*GENES CAUSE AUTISM ** 3/4 of the genetic risk is inherited   ---- mainly polygenic risk, which means it requires multiple different gene hits to be involved----- also  rarely some chromosomal rearrangements**1/4 of genetic risk is NOT inherited---- due to  de novo or germline mutations:  DNA changes in the sperm or the egg that makes the baby, that are NOT present in the parents, but are just in the child. ** It's so important to follow the American College of Medical Genetics recommendations and get genetic testing for our kids with known diagnosis of autism so that we can better understand what caused their form of autism. About Dr. John Constantino: His research focuses on understanding genetic and environmental influences on autism spectrum disorder and their implications for treatment and prevention. He developed a well-validated, normed instrument to assess impairments in social-communication skills called the Social Responsiveness Scale (SRS-2). He currently serves as Chief of Behavioral and Mental Health at Children's Hospital of Atlanta. He has been recognized for his work by numerous awards including the prestigious George Tarjan Award from the American Academy of Child and Adolescent Psychiatry for significant contributions  to the understanding and care of those with developmental disabilities.Check out our website PsychEd4Peds.com for more resources.Follow us on Instagram @psyched4peds

Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh.    Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 320 peer-reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. has an active clinical research program and participates in and consults on multiple gene therapy trials.   Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD). On this podcast, Dr. Vockley shares his career journey and personal stories about the impact of newborn screening research on physicians, families, and advocates.  Interview Questions: Among your many appointments, you serve on the Board of the American College of Medical Genetics and Genomics (ACMG) and advise on efforts to improve health through the practice of medical genetics and genomics. In addition to the ACMG board, you were integral in the early and current days of the NBSTRN. Can you tell us how you got involved in NBSTRN? As technologies to screen, diagnose, treat, and manage disease advance and increasingly use sequencing, can you share with our listeners your vision of how sequencing will be used in newborn screening in the future? What excites you about this potential, and can you share any concerns? You have published over 320 peer-reviewed scholarly articles and led many efforts funded by NIH and others. Can you describe the key findings from your most recent publication, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.” You are the Cleveland Family Endowed Pediatric Research, School of Medicine Professor of Human Genetics, Graduate School of Public Health, and the Director of the Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh. In your article titled “Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease,” you mentioned that the movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design and requires a fresh assessment of safe ways to obtain approval for new drugs. You proposed the development and scaling of nucleic acid-based therapies. Could you share this possibility with our listeners and what challenges need to be overcome to deliver them safely with appropriate evaluation and long-term follow-up? Can you share any stories of inspiration that keep you going? Anything else you'd like to share? Thank you for your efforts in conceptualizing the NBSTRN and establishing a network of stakeholders that includes health professionals, researchers, state programs and families, and advocates. Do you have advice for this community and how they can help to realize and capitalize on the fifteen years of NBSTRN? You are involved in training the new generation of medical geneticists. What do you tell them about newborn screening research? What does NBS research mean to you?  

Today, on the Newborn Screening SPOTlight podcast, we are thrilled to have Dr. Cynthia Powell join us to share her vision of genomic sequencing in newborn and her experience as the Past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Powell is a Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill School of Medicine, where she sees patients, teaches students, residents and fellows, and participates in research.  She is a board-certified clinical geneticist, cytogeneticist, pediatrician and genetic counselor.  She completed her pediatric residency at Children's National Medical Center in Washington, D.C. and medical genetics fellowship at Children's National Medical Center and the National Institutes of Health.    She is the program director of the UNC Hospitals Medical Genetics and Genomics Residency Program.  She is the immediate past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children and a member of the Board of Directors of the American College of Medical Genetics and Genomics.    She is Past President of the Association of Professors of Human and Medical Genetics and the American Board of Medical Genetics and Genomics.  She serves on the North Carolina Newborn Screening Advisory Committee and the North Carolina Genetics and Genomics Advisory Committee.  Her research interests include newborn screening, genomics, birth defects and genetic syndromes. She led the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, a five year project funded by NIH investigating the utility of next generation sequencing in newborns.    She is the UNC site principal investigator for the Early Check project, a voluntary newborn screening research project in North Carolina that offers parents the opportunity to have their infant screened for conditions that are not yet part of standard public health newborn screening.   She currently serves on the NBSTRN Steering Committee and has contributed to the development of tools and resources for newborn screening research. Dr. Powell wears many hats in her different roles in medical genetics and newborn screening. You will be inspired by her story of dedicated commitment in improving the lives of children. 

Robert Marion, Professor of Pediatrics and Obstetrics and Gynecology and Women's Health at the Albert Einstein College of Medicine, is Chief Emeritus of the Divisions of Pediatric Genetic Medicine and of Development Medicine at the Children's Hospital at Montefiore and Director Emeritus of Einstein's Rose F. Kennedy University Center for Excellence in Developmental Disabilities (RFK UCEDD) and of its Children's Evaluation and Rehabilitation Center (CERC). From 1987 through 2010, he also served as Director of Genetics at Blythedale Children's Hospital in Valhalla, New York. He has taught at the Joan H. Marks Graduate Program at Sarah Lawrence College since 1980 and has served the program in multiple roles, including as a member of its Admissions Committee. A 1979 graduate of Einstein, Dr. Marion did his internship in pediatrics at Tufts Medical Center in Boston, then returned to Einstein for his residency and fellowship in Medical Genetics at Einstein affiliated hospitals. He has been a faculty member at Einstein since 1984. He has been Co-Chair of Einstein's Committee on Admissions since 1990. Dr. Marion's clinical and research interests include the natural history and genetic basis of multiple malformation syndromes. At Blythedale, he served as Medical Director of the Einstein/ Montefiore Spina Bifida Clinic for 25 years. He is a founder and director or co-director of Montefiore's Regional Williams Syndrome Center, CardioGenetics Clinic, ImmunoGenetics Clinic and Dermatology Genetics Clinic. He has published extensively in the medical literature in these areas, and, in addition, is the author of seven books including The Intern Blues, The Boy Who Felt No Pain (winner of a Christopher Award), Learning to Play God and Genetics Round: A Doctor's Life in the Field that Revolutionized Medicine. Dr. Marion is the recipient of Einstein's Samuel Rosen Award for Excellence in Medical Student Teaching (selected by the medical students) and the Alumni Association's Lifetime Service Award. He is also the winner of the Lewis Fraad Award for Residency Education and the Obrinsky Award for excellence in medical student teaching in the department of pediatrics. In May 2015, he received the Exceptional Commitment to Teaching Award from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence. In May 2016, was awarded a Lifetime Achievement Award for Teaching from Einstein. A resident of Westchester County, he lives with his wife, Beth, and is the father of three children and grandfather of three grandchildren. _______________________________________________________ Positive Exposure https://positiveexposure.org/ Cracking the Genetic Code with Brocha Tarshish, MD-JOWMA Podcast https://anchor.fm/jowma/episodes/Cracking-the-Genetic-Code-with-Brocha-Tarshish--MD-e1eqv53 Genetics, Jews and Why You Should Care with Bracha-The Franciska Show Podcast https://open.spotify.com/episode/6055SM24S3Kk72AkgSusEu?si=7SQTuBM1RiWIcrQgETwjDQ&nd=1 Special Episode: Genetic Testing-The Science of Everything Podcast https://open.spotify.com/episode/3V2QfwdketvKcG05vqePTz?si=ivqPQNZATiSMuPf2B6lr4w _______________________________________________________ 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

Geneticist Dr. Tamar Goldwaser joins Dr. Fox for an updated discussion on carrier screening and how it is recently changing and becoming more accessible. In previous years, different genetic tests were offered to people based on their reported ethnicity, but self-reported ethnicity is not always accurate. By looking at carrier frequencies across demographics, Dr. Goldwaser and a team of medical geneticists in the American College of Medical Genetics and Genomics compiled a list of 113 genes that every patient should be screened for during their prenatal care.

Join us today for a conversation on the exciting progress and possibilities of genetics in pediatric care, with Dr. Caleb Bupp. Caleb is the Division Chief of Medical Genetics and Genomics at Spectrum Health and Helen DeVos Children's Hospital, and we get to hear from him about his path into this role, and how he first discovered his passion for helping young ones. Our guest comments on the central themes of parental communication, cost reduction, and genetic exceptionalism before we delve into some of the most noteworthy points of progress in the pediatric field at the moment. We look at the Project Baby Bear and Project Baby Deer programs, and the important impact that the speed and timing of results can have on the care of kids, with Caleb explaining the societal norms and expectations around genetics and engagement with these datasets. He also raises some concerns about access to care and shares an inspiring success story from the last few years, so make sure to tune in to get it all. If you have a sick kid and you can do a test to figure out why they're sick really fast, you give better care.” — Dr. Caleb Bupp Key Points From This Episode: Caleb takes us through his career journey and the roots of his interest in genetics and pediatrics. Reflection on the Concert Genetics Conference and Caleb's involvement. Reducing costs and freeing up resources for more impactful care. Thoughts on the intangible value of providing comprehensive patient information for parents. Dr. Bupp weighs in on the topic of genetic exceptionalism. Surprising recent developments in fields of genetics and pediatrics. Potential challenges with the amounts of information that clinicians needs to process. Experiences and progress with the Project Baby Bear program. Caleb's recent paper and presentation on the work at Project Baby Deer. The impact of earlier and faster intervention when treating children. How more proactive and effective screening can affect general societal health. Caleb shares the standout story of a patient with variants of uncertain significance and DFMO (difluoromethylornithine, a substance being studied in the treatment of cancer). Applying the principals of drug repurposing to other scenarios. Looking to the future and Caleb's hopes for the short and long-term of the pediatric space.

Patricia Weltin is the CEO/Founder of Beyond the Diagnosis, a traveling art exhibit that unites art and science to inspire research and innovation of treatments for people living with rare diseases. Artists paint portraits of children living with a rare disease; the portraits then become part of a traveling exhibit for medical schools, research institutes, hospitals, museums, and art galleries around the world. Patricia is the mother of two children living with Ehlers-Danlos Syndrome (EDS), a rarely diagnosed, multi-systemic connective tissue disorder. Her work as CEO of Beyond the Diagnosis led Patricia to make connections among many rare diseases, notably the prevalence of Tethered Spinal Cord (TSC) in the rare population. Patricia, a citizen scientist, was recently published in the American Journal of Medical Genetics.

We've talked about genomics in relation to medications, and precision medicine using DNA panels.  In this episode, we narrow it down with Dee McKnight, a genetic specialist in the epilepsy community.  Dee has been a part of the effort to bring genetic testing as a common diagnostic practice from the early days.  Enjoy this eye-opening episode, and share with everyone, as it has the possibility to save lives. Here are links to the papers Dee references in our conversation: Mostly kid's testing results: https://onlinelibrary.wiley.com/doi/10.1002/epi4.12348 Adult epilepsy study: https://ng.neurology.org/content/8/1/e650 Doctor's changes to clinical management and patient outcomes study: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510   Dr. Dee McKnight is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. She has more than 10 years of experience in the genetic diagnostics field and is currently a Senior Medical Affairs Director at Invitae. Prior to joining Invitae, Dr. McKnight was the director of the neurogenetics testing program at GeneDx, where she specialized in genetic testing for patients with epilepsy and intellectual disability. Dr. McKnight earned her doctorate degree at Penn State University and completed post-doctoral training at the NIH. While at the NIH, she was a research fellow at the National Institute of Dental and Craniofacial Research for 5 years, during which she also completed her board-accredited clinical molecular genetics training fellowship at the National Human Genome Research Institute. “Seizure Salad, ~Fustercluck Epilepticus~”, is produced & hosted by Micah Ball Original Logo and Graphic Design by Alba "Lupi" Lopez The song “Seizure Boy” courtesy of Watsky, and used with permission. Find more great music & poetry on his website, GeorgeWatsky.com   Thanks for listening! Mad Gratitude, ~Micah Unexpect the Expected

The Accelerators (Drs. Anna Brown, Matt Spraker, and Simul Parikh) host Clinical Geneticist Dr. Elizabeth Chao, Director of Medical Genetics at UC Irvine and Vice President and Clinical Diagnostics Laboratory Director at Ambry Genetics for a discussion about medical genetics in the oncology clinic and beyond!  We start by discussing practice models for clinical geneticists and then spend some time discussing the role of genetic testing in pancreatic cancer care. We then discuss genetic testing more generally and what the future holds for the field. Our discussion concludes with Liz sharing her training path, which started in #RadOnc, to a very successful career.  Here are some things that were discussed during the show: Publication of the PALB2 pancreatic cancer susceptibility geneNCCN Guidelines for genetic/familial high-risk assessment: breast, ovarian, and pancreaticUK NHS 100,000 Genomes ProjectAmbry Genetics - The Care ProgramPodcast art generously donated by Dr. Danielle Cunningham. Intro and Outro music generously donated by Emmy-award winning artist Lucas Cantor Santiago.The Accelerators Podcast is a Photon Media production. 

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn't match in this cycle and offer inspiration to apply next round.In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know. Enter on Instagram, Twitter, and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning. Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC, who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101, 111, 135, and 212.Can't wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023. —---------------------------------------------------------------------------------------------------------------------------We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins!Michelle Fox, MS, CGC, is an Adjunct Associate Professor of Pediatrics at UCLA. For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer and genetic neurodegenerative disorders. She is also a faculty member of the UCLA Genetic Counseling Program. Michelle served on the Secretary's Advisory Committee for Heritable Disorders of Newborns and Children Follow-up and Treatment sub-committee and on the National Society of Genetic Counselors Public Policy Newborn Screening Task Force in 2014. She was a member of the Western States Regional Genetics Network from 2010-2013. Michelle served on the American College of Medical Genetics and Genomics Hearing Loss Guidelines Committee (2013), the American Board of Genetic Counseling Engagement Task Force (2016) and the National Society of Genetic Counselors Conflict of Interest Task Force (2017-2018). She currently serves on the Mt. Sinai Medical Center Genetic Counseling Program Advisory Board, UCLA Genetic Counseling Program Advisory Board and was a member at large of the National Society of Genetic Counselors board of directors (2019-2020). Michelle was awarded the Natalie Weissberger Paul Lifetime Achievement Award 2022 recognizing her contributions to the field of genetic counseling!Debra Collins, M.S., CGC, has been a genetic counselor at University of Kansas Medical Center for four decades. She has been working there as a genetic counselor for about four decades and her current roles include being a hereditary cancer genetic counselor, with special expertise in von Hippel-Lindau syndrome, and advisor to the genetics and neoplasia medical school curricula.. She has been an active member of the NSGC, including being a past President, serving on the Board of Directors, the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the Jane Engelberg Memorial Fellowship Special Award for an online course on grant writing for genetic counselors. Collins also had leadership roles in organizations such as the American Society of Human Genetics, The American Board of Genetic Counseling, and many family support / advocacy groups. Debra graduated from Sarah Lawrence College, the first genetic counseling program, with her Master's Degree in Human Genetics. She has enjoyed working as a genetic counselor every day: providing education, advocating, counseling, translating complex information, and making a difference in the lives of patients and families. On This Episode We Discuss:Why it's important to understand the history of the genetic counseling fieldWhy the year 1969 is an important one for the professionThe first annual education (NSGC) conferenceThe role of the March of DimesThe number of people who attended the first conferenceThe next few annual education conferencesWhat has changed since thenNSGC conferences todayIf you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. Stay tuned for part 2 of this series with Ed Kloza and Ann Walker where we will focus on the Formation of the American Board of Genetic Counseling (ABGC).You can learn more about the past, present, and future of NSGC conferences here!Stay tuned for the next new episode of DNA Today on May 5th, 2023 where we'll be continuing this history of genetic counseling discussion by chatting about the formation of the ABGC with Ed Kloza and Ann Walker. New episodes are released every Friday. In the meantime, you can binge over 235 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. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence's “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia's NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children's Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 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. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)I've enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.

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

Wendy is a keynote speaker, Principal Cloud Security Architect, and senior security advisor. She has worked for Cisco, PWC, and Deloitte. Has a doctorate from the University of Oxford. She is currently with OneWeb. Prior to joining OneWeb, Wendy was Experian's DevSecOps Security Managing Adviser and defined the strategy for the organization's global DevSecOps transformation initiative. Wendy is active in the community, regularly sharing experiences through keynotes, Blogs, and Black Hat. 00:00 Introduction 00:21 Our Guest 01:40 Transitioning from Medical Genetics to Cyber 04:50 The importance of having people from different fields 07:41 Comparisons between Biological Virus and Breach 12:09 Low Earth Orbit Constellation 18:18 Hackers are Collaborative 22:01 100% Security 26:30 Understanding the Risk 30:40 Building a Culture of Awareness 35:35 DevSecOps 38:50 Controlling that 3rd party risk 43:15 Connecting with Wendy VkzkH79NmeR5yCZidDzz

Dr. Judith Fridovich-Keil joined the faculty at Emory in 1991. She is currently a professor in the department of Human Genetics, School of Medicine at Emory. Her research focus: inborn errors of metabolism (galactosemia). Dr. Fridovich-Keil received her AB in Biochemistry, Princeton University (1983), and her PhD in Biology from MIT (1988). She completed her postdoctoral training at Dana Farber Cancer Institute and Harvard Medical School (1988-91) and is board certified by the American Board of Medical Genetics and Genomics in Clinical Medical Genetics (1996 - present). Dr. Fridovich-Keil grew up in Durham, NC. My husband, Mark, and has been married for 38 year. She and her husband are the proud parents of two adult children. Newborn Screening Tests Galactosemia Foundation

Synopsis: This special episode features a panel discussion with three biotech leaders about drug development for rare diseases. James Mackay, Ph.D., is the Founder, President and CEO of Aristea Therapeutics, an immunology-focused clinical stage biotech that is focused on inflammatory diseases. Arthur T. Suckow, Ph.D., is the Co-Founder and CEO of DTx Pharma, which is focused on developing novel technology for delivery of RNA medicines. Eslie Dennis is the SVP and CMO of Kyowa Kirin North America, a Japan-based global specialty pharmaceutical company. Our guests discuss the patient journey for those living with rare diseases, the importance of driving awareness for this patient population, important points to consider when partnering with big pharma, clinical trial design for patients with rare diseases, and best practices for driving awareness and inclusion of people of color in rare disease trials. Biography: James Mackay, Ph.D., Founder, President and Chief Executive Officer, has over 25 years of development and commercialization expertise in the pharmaceutical industry, including 6 drug product approvals across multiple therapeutic areas. Prior to founding Aristea, he was President and Chief Executive Officer of Ardea Biosciences, Inc., following the company's acquisition by AstraZeneca in 2012. James was instrumental to setting up an innovative model for Ardea Biosciences that retained the biotech's independence and accountability for the development of the gout franchise while also developing a synergistic and collaborative relationship with the parent company, AstraZeneca. Prior to Ardea, James held senior executive positions at AstraZeneca where he led the development and commercialization of drugs across a range of therapy areas. and managed significant global functional departments. James plays a pivotal role in the San Diego Ecosystem and currently sits on the Board and Executive Committee of CONNECT and sits on the Board of BIOCOM. He is a former Board member of the San Diego Economic Development Corporation (EDC). James holds a BS in Genetics and Ph.D. in Medical Genetics from Aberdeen University, Scotland. Dr. Arthur Suckow founded DTx Pharma in 2017. An innovative leader in drug discovery, he previously worked on the ophthalmology, diabetes, and NASH programs at Regulus Therapeutics, at the MedImmune arm of AstraZeneca, and in the Diabetes Drug Discovery program at Johnson & Johnson. Dr. Suckow received his BS from the University of Delaware and his PhD from University of California, San Diego. He has received numerous awards including a Beckman Fellowship, a NSF graduate research fellowship, and a BIOCOM catalyst award. Dr. Eslie Dennis joined Kyowa Kirin in May 2021 as SVP, Chief Medical Officer for Kyowa Kirin North America. Prior to joining this organization, she was Vice President and Head Global Medical Affairs at Ventana/Roche Tissue Diagnostics. She is a physician with 10 years experience in clinical practice (internal medicine and hematology/oncology) and research, and over 20 years international biopharma experience holding positions of increasing responsibility in pharmaceutical and diagnostic organizations at MSD, Novartis and Roche, including leadership of public-private consortia at the Critical Path Institute. Throughout her career, Dr. Dennis has championed innovative science and solutions to address unmet needs for patients and society, particularly addressing healthcare disparities. Dr. Dennis received her MBChB from the Godfrey Huggins School of Medicine in Harare, Zimbabwe, and was the recipient of the Winston Churchill, Margaret Low, and Prankard-Jones Scholarships, as well as the Guy Elliot Bursary. She is a Fellow of the College of Physicians of South Africa and received her internal medicine and hematology/oncology training at Groote Schuur Hospital in Cape Town, South Africa.

Does stiff fascia hurt because it's stiff? Why then is there pain with the softer-tissue patterns of hypermobility and Ehlers-Danlos syndromes? Dr. Tina Wang's fascinating research (as well as her own story) helps shed some light on this paradox. Check out the video of her Thinking Practitioner conversation on Til or Whitney's sites:  Til Luchau's Advanced-Trainings.com  Whitney Lowe's Academy of Clinical Massage Resources: Dr Wang's clinical practice https://tupelopointe.com/ Dr Wang's neurofascialinflammation seminars including hEDS course: https://www.thebraincelledu.com/seminars Selected research: Wang, Tina J., and Antonio Stecco. “Fascial Thickness and Stiffness in Hypermobile Ehlers‐Danlos Syndrome.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics 187, no. 4 (December 2021): 446–52. https://doi.org/10.1002/ajmg.c.31948. Wang, Tina, Roya Vahdatinia, Sarah Humbert, and Antonio Stecco. “Myofascial Injection Using Fascial Layer-Specific Hydromanipulation Technique (FLuSH) and the Delineation of Multifactorial Myofascial Pain.” Medicina (Kaunas, Lithuania) 56, no. 12 (December 20, 2020): 717. https://doi.org/10.3390/medicina56120717. Sponsor Offers: Books of Discovery: save 15% by entering "thinking" at checkout on booksofdiscovery.com. ABMP: save $24 on new membership at abmp.com/thinking.  Handspring Publishing: save 20% by entering “TTP” at checkout at handspringpublishing.com.  About Whitney Lowe  |  About Til Luchau  |  Email Us: info@thethinkingpractitioner.com (The Thinking Practitioner Podcast is intended for professional practitioners of manual and movement therapies: bodywork, massage therapy, structural integration, chiropractic, myofascial and myotherapy, orthopedic, sports massage, physical therapy, osteopathy, yoga, strength and conditioning, and similar professions. It is not medical or treatment advice.)

Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today!Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. On This Episode We Discuss:Differences between gene panels, exome, and genome sequencing Adapting workflows from exome to genome utilizing existing frameworksAdvantages of different types of testingLimiting the floodgates of variants that inevitably come with whole genome sequencingHelpful information for providers to include with specimens to guide the laboratory when the data are analyzedThe role of phenotypic data specifically in classification of sequence variantsDeep intronic variantsKira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). If you found the topics that we discussed on this episode interesting, check out this recorded presentation from Dr. Bean entitled, “Why Bigger Isn't Only VOUSier.”Learn more about phenotypically-driven clinical results at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on October 21st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. When Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), her mother, Amber was told to love and care for Willow but that there was no cure for this terrible fatal condition. Amber set out to find and fund the cure for MSD. That's when she started the United Multiple Sulfatase Deficiency Foundation. She shares this personal experience on Episode 205 of DNA Today including how this affected her family and the relationships she has built with other families in the MSD community. (SPONSORED)TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)

This podcast will provide listeners with an understanding of Maple Syrup Urine Disease, its clinical signs and symptoms, and management. This podcast was developed by fourth year medical student Angela Messer in collaboration with Dr. Shailly Jain, an Associate Professor in the Department of Medical Genetics at the University of Alberta.

“The moment you make a better choice, you're switching on a gene that is doing something wonderful to your body” Simplifying the mechanisms of genetics, Dr. Yael provides insights on the inability to change your genes, but the ability to impact the expression of genes. With a clear explanation of genetics, epigenetics, and nutrigenomics, Dr. Yael discusses medical genetics and the concept of "genes are destiny." Additionally, she dives into the heritability of injury, how genetic testing can be beneficial for behavior change, and how your genes are involved in your detoxification efficacy and inflammation regulation. Finally. Dr. Yael shares a case study on genetics and root-cause analysis to approach obesity. Let's dive in! MAJOR DISCOUNT FOR JEN.HEALTH. Sign up now to get 57% off for life! You will have access to 11 different calendar-follow plans with 2-3 phases and short videos daily, monthly check-ins with DocJen with anatomy breakdowns, and a growing community. Sign up right now and start a free week. See what it feels like to commit for a week! Click here to join Jen.Health! Be one of the first 50 to buy the 3x4 genetic blueprint and fill in the survey and you will receive a free book " The Power of Genetics." Furthermore, Dr. Yael is offering a 20% discount on the blueprint with the code 'OPTIMAL20'. Click here to purchase your blueprint! What You Will Learn In This interview Interview with Dr. Yael Joffe: 6:16 - Genetics & epigenetics 12:52 - What is Nutrigenomics? 15:37 - Medical Genetics vs “Our genes are destiny” 20:20 - Gene expression of injury 23:13 - Genetics and driving true behavior change 27:07 - Influences on genetic expression 29:11 - How your genes can indicate if you are more prone to inflammation 33:54 - Case studies on root cause analysis with genetics 44:11 - Get your genes tested! Item's Mentioned: Get your genes tested! Use code 'OPTIMAL20' Dr. Yael's Instagram To learn more about Dr. Yael and view full show notes, please visit the full website here: https://www.docjenfit.com/podcast/episode235/ Thank you so much for checking out this episode of The Optimal Body Podcast. If you haven't done so already, please take a minute to subscribe and leave a quick rating and review of the show! --- Send in a voice message: https://anchor.fm/tobpodcast/message

Dr. Wendy joins Jax and Erika to discuss her transition into the Cybersecurity industry, while sharing hot tips and tricks for our listeners. After earning her Ph.D. in medical genetics from Oxford University, she leveraged her analytics expertise and established a background in infrastructure and cloud security.Dr. Wendy's impressive experience ranges from aerospace, healthcare, financial services, consulting, telecommunications, transport logistics, and national infrastructure. In this chat, she provides valuable feedback on entering the industry, establishing credibility through thought leadership, and getting more speaking engagements under your belt.__________________________GuestDr. Wendy NgPrincipal Cloud Security Architect at OneWeb [@OpenWebHQ]On LinkedIn | https://uk.linkedin.com/in/wendyng1HostsJax ScottOn ITSPmagazine  

Dr. Wendy joins Jax and Erika to discuss her transition into the Cybersecurity industry, while sharing hot tips and tricks for our listeners. After earning her Ph.D. in medical genetics from Oxford University, she leveraged her analytics expertise and established a background in infrastructure and cloud security.Dr. Wendy's impressive experience ranges from aerospace, healthcare, financial services, consulting, telecommunications, transport logistics, and national infrastructure. In this chat, she provides valuable feedback on entering the industry, establishing credibility through thought leadership, and getting more speaking engagements under your belt.__________________________GuestDr. Wendy NgPrincipal Cloud Security Architect at OneWeb [@OpenWebHQ]On LinkedIn | https://uk.linkedin.com/in/wendyng1HostsJax ScottOn ITSPmagazine  

Today on NORDpod, Andrew MacDowell stands in for Matthew Zachary, and he welcomes Dr. Kathleen Donohue, Director of the Division of Rare Diseases and Medical Genetics, at the FDA's Office of New Drugs. Over 350 million people worldwide have a rare disease, yet only 10% of rare diseases have an FDA-approved treatment. Dr. Donohue oversees the national hub designed to move the needle on that statistic, providing a shared pool of resources to spark new discoveries and speed up the creation of new therapies for rare diseases. Listen for the subtle sounds of the wild thunderstorm that rolls in during their taping as they talk through the critical role patient advocacy groups play in bringing rare disease patients into making these discoveries happen. Learn about the RDCA-DAP: the all-important central repository of shared data about rare diseases, with a very alphabet-soupy name. They also cover the powerful need for advocacy groups to ensure the data they collect from patients is gathered in a way that makes it possible for them to submit it to RDCA- DAP. NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, email nordpod@rarediseases.org and visit https://rarediseases.org. RDCA-DAP® is fully funded with a federal grant awarded to the Critical Path Institute: www.c-path.org/fda-acknowledgement. https://c-path.org/fda-acknowledgement.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Dr. Grody specializes in Medical Genetics & Molecular Diagnostics. Let's talk about their journey and the lessons learned over their 33 years of practice.