All Access DNA

In this episode, Yentli Soto Albrecht, PhD, shares her personal journey with ALS and FTD, her scientific research, and her efforts to accelerate the search for a cure. Discover how her story fuels her advocacy and innovative projects to fight these neurodegenerative diseases. Key words: ALS, FTD, genetic research, neurodegeneration, Cure C9, gene therapy, prevention trials, scientific collaboration, patient advocacy Key Topics: Genetic causes of ALS and FTD and the C9 repeat expansion Current challenges in clinical trials and drug development The role of patient advocacy and community engagement Innovative research projects and collaborations The importance of accessible biomarkers and diagnostics Guest bio: Yentli Soto Albrecht, PhD, is a 9th-year MD-PhD student at the University of Pennsylvania and will complete her medical degree in 2027. She earned her PhD in 2024 in the Douglas Wallace lab at the Children’s Hospital of Philadelphia, showing that mitochondrial oxidative phosphorylation restricts SARS-CoV-2 replication and that natural mitochondrial DNA variation modulates viral pathogenesis, work recognized with the Richard K. Root Prize for Infectious Disease Research in 2025. She was president of the American Physician Scientists Association from 2022 to 2023, managing a budget of more than $300,000 and reaching over 5,000 dual-degree applicants across her five-year tenure. She was preparing for a career as an infectious disease physician-scientist when her father was diagnosed with genetic ALS in June 2023 and she learned she carried the same C9orf72 repeat expansion that was taking his life, the most common genetic cause of both ALS and frontotemporal dementia (FTD). Her father, Frank Albrecht, died in August 2024, and six months later she pivoted to C9orf72 neurodegeneration. She has since built eleven collaborative projects across eight countries, including synchrotron imaging comparing aggregates in C9 ALS and C9 FTD, nanosensor-based biomarker discovery, drug repositioning, and the first commercial C9orf72 iPSC biorepository, which begins with her father’s cells and her own. She has secured more than $280,000 in grant funding for her collaborators and raised over $66,000 through Push Ups for ALS, a carrier-led fundraiser in her father’s memory. She co-founded CureC9, a program within EverythingALS governed by an eight-member scientific advisory board, which has raised $216,711 toward a $12 million flagship effort and meets for the third time in September to plan the first prevention trial for genetic ALS and FTD. She was the inaugural End the Legacy Community Science Liaison fellow, brings the science back to genetic carriers in lay terms through her video series Search for a Self Cure, and has accepted an offer to join Eli Lilly’s Talent Development Academy in Boston as a postdoctoral scientist in ALS disease biology and drug discovery after medical school. Next year, she will apply to neurology residency programs for a 2028 start. Dr. Soto Albrecht draws on her position as patient, scientist, and physician-in-training to accelerate therapies for familial ALS and FTD within her lifetime. Resources related to today’s topic: CureC9 website The Association for Frontotemporal Degeneration The ALS Association Compassionate Care ALS North Star ALS End the Legacy Everything ALS Breakthrough Prize Video Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Sign up for our newsletter here: https://www.allaccessdna.com/newsletter Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Aryanah Estinvil.

In this episode, Megan Johnson discusses the disparities in genomic healthcare, focusing on how healthcare experiences influence participation and trust, especially among underrepresented groups. She explores the genomic healthcare disparity cycle, the importance of diversity in genetic research, and strategies to improve patient engagement and understanding. Key words: genomic healthcare disparities, underrepresented groups, healthcare experience, genetic research, trust in medicine, diversity in genomics, patient engagement, healthcare access, genetic counseling, health equity Key Topics: The genomic healthcare disparity cycle and its impact Importance of diversity and inclusion in genetic research Role of healthcare providers in improving patient trust and understanding The influence of social determinants on access to genomic healthcare The potential of community-based research and primary care integration Steps to address systemic barriers and improve health equity Guest bio: Megan is a clinical genetic counselor who helps patients and their families understand and make decisions around complex genetic information. Her research into how healthcare experiences shape genomic healthcare disparities grew out of a long-standing commitment to equity, one that took root growing up in a rural community with limited access to specialized care. She's dedicated to making genetic counseling accessible and meaningful for patients of all ages. Resources related to today’s topic: Johnson, M.D., Hite, A., Richmond, J. et al. Healthcare experiences and the cycle of genomic healthcare disparities: A cross-sectional study utilizing the ‘All of Us’ research program. J Community Genet 17, 88 (2026). https://doi.org/10.1007/s12687-026-00921-8 All of Us Research Program from the National Institutes of Health Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Sign up for our newsletter here: https://www.allaccessdna.com/newsletter Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Aryanah Estinvil

Carissa shares her inspiring journey of parenting her son Jack, diagnosed with Down syndrome, and how it led to the creation of Jack's Basket—an organization dedicated to supporting families and changing perceptions about Down syndrome. Keywords: Down syndrome, Jack's Basket, parenting, advocacy, community support, diagnosis communication, celebration, inclusion, healthcare training Key Topics: The impact of diagnosis communication on families The role of community and support networks for families with children with Down syndrome The mission and activities of Jack’s Basket in providing hope and resources The importance of celebrating individuals with Down syndrome and promoting inclusion Strategies for healthcare providers to deliver unexpected news empathetically Guest Bio: Carissa Carroll, M.Ed., is the founder and CEO of Jack’s Basket, an organization born from her heart after her son Jack was diagnosed with Down syndrome. Driven by a deep commitment and clear mission, Carissa is passionate about celebrating the lives of individuals with Down syndrome. She has a deep love for learning, constantly seeking to grow and understand more. Building meaningful relationships is a priority for her. Carissa leads all growth efforts, inspiring communities to embrace and celebrate individuals facing an unexpected diagnosis with dignity and hope. With an undergraduate degree from Bethel University and a Master of Education from the University of Minnesota, Carissa brings her background in education to equip medical providers with compassionate communication tools to deliver the Down syndrome diagnosis without bias. Her mission is to transform how families experience this moment, ensuring they feel supported, connected, and fully know that their child is worthy of celebration. As a connector, innovator, and dedicated advocate, Carissa writes, speaks, and leads strategic initiatives to expand Jack’s Basket’s reach and impact. She collaborates closely with the organization’s board, volunteers, and donors, fostering a community that values individuals, connection, and celebration. When she’s not advocating for families and shaping the future of Jack’s Basket, Carissa enjoys early morning runs with friends, quality time with her husband, and cherishing moments with her three children. She remains deeply inspired by individuals with Down syndrome and energized by the positive change that Jack’s story and the organization continue to create. Here are more resources related to today’s topic: Jack’s Basket Website “Communicating Unexpected News” Curriculum You Make Me Better Annual Gala Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Aryanah Estinvil.

In this episode, we explore bleeding disorders, their symptoms, diagnosis, and management, with expert Kaylee Dollerschell. Learn how these conditions affect individuals, especially women, and discover resources for support and treatment. Key words: bleeding disorders, hemophilia, von Willebrand, heavy menstrual bleeding, diagnosis, treatment, genetic counseling, patient resources Key Topics: What is a bleeding disorder and how it affects the body Signs and symptoms of bleeding disorders Diagnosis and testing for bleeding disorders Treatment options including gene therapy Impact of bleeding disorders on pregnancy and daily life Guest bio: Kaylee is a hematology genetic counselor at the University of Colorado and Children's Hospital Colorado. She works with patients and families with hereditary bleeding & clotting conditions along with other hereditary blood & cancer disorders. She graduated from Colorado State University and worked at two start-up genetic testing companies before returning to school for her master's in genetic counseling. She graduated with her master's in genetic counseling from Augustana-Sanford Genetic Counseling Program in 2019. She's been with University of Colorado/Children's Hospital Colorado since then. She loves her work within the hereditary bleeding disorders community. During her free time, she enjoys the outdoors of Colorado, volleyball, camping, hunting, and spending time with friends & family. Resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you National Bleeding Disorder Foundation Foundation for Women and Girls with Blood Disorders World Federation of Hemophilia Dismissed Film- Bleeding Disorders Bombardier Blood- documentary Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Aryanah Estinvil.

Dr. Jeremy Koenig shares how he came to performance genomics through his own athletic background, and the conversation explores how genetic information can inform training, injury risk, and coaching- without being treated as a prediction of destiny. Key words: Precision Health, Athletic Genomics, Genetics in Sports, Genetic Counseling, Injury Risk, Training Optimization, Personalized Coaching, DNA Testing Key Insights The most impactful knowledge is context-driven Genetic information is a navigational tool, not fate Genes don’t guarantee Olympic success Athletic genetic profiles can include info on metabolism & injury protection Guest bio: Jeremy Koenig is a PhD Biochemist, former professional athlete and the Founder of Iris Infinity. Jeremy built The DNA of Things podcast as a room where the brightest minds in genomics, longevity, and human performance can share their work directly with the people it matters to most. The guests are the story — he just makes sure they're heard. As the founder of Iris Infinity — one of the world's leading DNA analysis platforms — he's spent two decades at the intersection of biology, technology, and athletics. That experience shapes the questions, but the answers belong to the experts. Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Aryanah Estinvil.

In this interview, we learn what epilepsy is, its causes, and the role of genetics in diagnosis and treatment. Beth Sheidley, a genetic counselor, explains the fundamentals of epilepsy, its genetic components, and the latest advancements in genetic testing. Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Keywords: epilepsy, genetic testing, genetic counseling, seizures, pediatric neurology, genetic causes, epilepsy treatment, genetic diagnosis, brain disorders, clinical trials Key Topics: Clinical presentation of epilepsy and various known causes Differences between unprovoked and provoked seizures Genetic factors in epilepsy Role of genetic counseling in both diagnosis and management Guest Bio: Ms. Sheidley is a licensed genetic counselor with over 30 years of experience in clinical genetic counseling, research, and teaching. Her areas of expertise include autism, epilepsy, psychiatric illness and both prenatal and pediatric genetic counseling. She received her BS degree from Cornell University in 1990 and her MS in genetic counseling from Brandeis University in 1994, where she served as Professor of the Practice/Co-Director of Research and Professional Development from 2005 to June 2014. Ms. Sheidley is the Director of Genetic Counseling for the Department of Neurology at Boston Children’s Hospital where she co-founded the first Epilepsy Genetics Program in the United States. Ms. Sheidley also co-founded and chairs EpiGC, an international network of genetic counselors who specialize in epilepsy genetics. Ms. Sheidley was the lead author of a systematic review of the epilepsy genetics literature on behalf of the National Society of Genetic Counselors (NSGC) and co-authored the resulting practice guideline adopted by NSGC and endorsed by the AES. She is a Co-Investigator for the Gene-STEPS study at Boston Children’s, which enrolls infants with recent seizure onset for rapid whole genome sequencing. https://www.linkedin.com/in/beth-rosen-sheidley-4994654/ Resources: Findageneticcounselor.org to search for a genetic counselor near you Rare Epilepsy Network (REN) Epilepsy Foundation Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Dr. Emily Allen, a genetics researcher, explains the complexities of Fragile X syndrome, its genetic basis, and the importance of advocacy and ongoing research. Discover how genetics influence development, the challenges in diagnosis, and the promising future of personalized treatments. Key words: Fragile X, genetics, genetic counseling, developmental delays, autism, pre-mutation, research, advocacy, genetic testing, neurogenetics Key Topics: Genetics of Fragile X syndrome Pre-mutation, carrier and full mutation distinctions Diagnosis challenges and clinical presentations Current research and future therapies Guest bio: Dr. Emily Allen’s research centers around studies of fragile X syndrome and Down syndrome. She values interdisciplinary engagement and actively collaborates with community organizations, government bodies, and academic institutions to enhance the breadth and impact of her research. She has combined quantitative and qualitative techniques, often beginning with broad data collection and analysis to identify patterns and trends, followed by in-depth qualitative exploration to better understand the underlying dynamics. She values the engagement of stakeholders throughout the research process, ensuring that those closest to the issues are heard and that their perspectives inform both the framing of research questions and the interpretation of results. By utilizing mixed methods, she can capture both statistical trends and individual experiences, providing a comprehensive perspective that supports better decision-making. Resources related to today’s topic: People article National Fragile X Foundation Emory page? Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Dr. Marleah Dean Kruzel explores the critical role of communication in healthcare, emphasizing how effective dialogue between clinicians and patients can improve health outcomes, reduce errors, and foster trust. She shares personal stories, research findings, and practical tips for enhancing health communication, especially around uncertainty and complex medical information. Key Words: healthcare communication, patient-provider interaction, medical uncertainty, storytelling in science, health literacy, genetic counseling, medical errors, patient engagement, science communication, healthcare research Topics Covered: Importance of communication in healthcare Impact of uncertainty on patient decisions Role of storytelling in science and medicine Barriers to effective patient-provider communication Strategies for improving health literacy and trust Guest Bio: Marleah Dean Kruzel (PhD, Texas A&M University) is a professor, researcher, and speaker in healthcare communication. Her research focuses on communication of genetic risk information, has been published in numerous peer-reviewed journals, and funded by the National Cancer Institute, American Cancer Society, the Centers for Disease Control and Prevention, and the Patient-Centered Outcomes Research Institute. The daughter of a 28-year-old breast cancer survivor and BRCA2 previvor herself, she is committed to patient engagement and science communication. For example, she participated in the CDC’s “Bring Your Brave” campaign designed to educate and inspire young women regarding breast cancer risk, frequently gives community presentations and is featured on podcasts to disseminate her about research results. Dr. Dean Kruzel is also a Scientific Advisory Board member for the non-profits FORCE and My Faulty Gene. LinkedIn Profile: https://www.linkedin.com/in/marleah-dean-kruzel-ph-d-02062128/ Here are more resources related to today’s topic: Marleah's story on CDC's Bring Your Brave campaign: https://www.youtube.com/watch?v=BbDIUIXPsqM Marleah's TEDx talk: https://www.youtube.com/watch?v=6RVpgP_0XTs Marleah’s website Marleah’s YouTube channel Society of Behavioral Medicine website University of South Florida Genetic Counseling Program Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Maya Brown-Zimmerman shares her personal journey with Marfan syndrome, the importance of early diagnosis, and navigating life with a connective tissue disorder. She discusses medical management, genetic testing, community support, and her work in genetic counseling. Key words: Marfan syndrome, genetic counseling, connective tissue disorder, medical management, genetic testing, patient advocacy, community support, rare diseases Key Topics: Diagnosis and clinical signs of Marfan syndrome Genetic testing and its role in diagnosis Managing health and lifestyle with Marfan syndrome Guest bio: Maya Brown-Zimmerman is a cardio genetic counselor living with Marfan syndrome, and the mother of four kids. She is passionate about making genetic information accessible. She's volunteered with the Marfan Foundation since she was a teenager and is currently an advisor to both their Professional Advisory Board and Board of Directors. Resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Marfan Foundation Facebook Marfan syndrome The VEDs Movement Loeys-Dietz Syndrome Foundation Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

We are talking about current events in genetics, including Olympic sex testing, genetic privacy in insurance, and legal challenges faced by genetic testing companies. It highlights how genetic information is used, misused, and the ongoing debates around privacy and ethics Key words: Genetics, Olympic sex testing, Genetic privacy, Insurance discrimination, Genetic data lawsuits Key Topics: The Olympics will start using SRY testing which is a scientifically flawed method of testing for biological sex Australia passes a country-wide law protecting against using genetic data in life insurance underwriting Recent lawsuit allegations bring up questions on how private your genetic data really is Related Episodes: What are sex trait variations and how do we support intersex individuals? With Kaitlyn Brown Does genetics influence sex and gender? With Kim Zayhowski When is rare disease not so rare? With Susanna Smith The DNA Dialogues Podcast episode #27: Protecting genetic information: Life insurance and GINA Should I delete my 23andMe data? With Anya Prince What should I know about buying a DNA test? With Andrew McCarty Sources: Andrew Sinclair: World's Athletics' mandatory genetic test for women athletes is misguided. I should know- I discovered the relevant gene in 1990 Essay: Gender verification of female athletes A sex test for Olympic contenders harms all women by Chris Mosier and Erika Lorshbough Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance Genetic Discrimination is Coming for Us All by Kristen V. Brown How your health (and genetic results) affects your life, travel and health insurance Future implications of polygenic risk scores for life insurance underwriting Time to End the Use of Genetic Test Results in Life Insurance Underwriting U of Iowa Genetic Privacy in the US: Insurance and Law Enforcement Use Healthcare AI Firm Sued Over Alleged Unlawful Disclosures of Genetic Data Tempus AI Sued for Breach of Genetic Information Privacy Act Genetic data are not always personal- disaggregating the identifiability and sensitivity of genetic data Policy brief: can genomic data be anonymised? Global Alliance for Genomics and Health Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this insightful interview, genetic counselor Andy McCarty discusses the rise of private practice in genetics, the nuances of direct-to-consumer genetic testing, and how to interpret results responsibly. Learn about access, misconceptions, and the importance of professional guidance in genetic testing. Key Takeaways: Not all genetic testing is the same Verify results with clinical-grade testing Consult a genetic counselor for interpretation of results Misleading results can impact your health decisions Guest Bio: Andrew McCarty is a genetic counselor focused on bringing accessible, evidence-based genetic services to patients and healthcare teams. As founder of Clover Genetics, he works across specialties to interpret genetic test results, design patient-centered counseling pathways, and advise clinicians on appropriate test selection and follow-up. Andrew has a pragmatic approach: he prioritizes clear communication, action-oriented recommendations, and realistic expectations for what genetic information can and cannot tell us. Resources: Findageneticcounselor.org to search for a genetic counselor near you Clover Genetics , Andrew McCarty’s practice Keywords: genetic counseling, direct-to-consumer testing, private practice, genetic results interpretation, healthcare access, genetic variants, clinical vs consumer testing Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Lori Jones shares her personal journey with Huntington's disease, exploring its symptoms, family impact, and the importance of community and research. Lori shares with us insights into living with risk, making decisions about testing, and advocating for better understanding and treatment. Keywords: Huntington's disease, genetics, neurodegenerative, family impact, genetic testing, community support, research, memoir, advocacy Key Topics: Genetic inheritance and risk of Huntington's disease Family impact and personal stories of living with HD The importance of community, support, and advocacy in HD Current research, clinical trials, and future hope for HD treatments Guest Bio: Lori Jones has personally experienced the effects of Huntington’s Disease (HD) in her family and was instrumental in starting a Team Hope annual event in her area to raise awareness and support for research and community programs. She has been published in the Wisconsin HDSA Update Newsletter, and spoken in the public schools about HD, genetics, and presymptomatic testing. She has contributed short stories for Women in High Def by Diane Markins. A storyteller at heart, she regularly writes and speaks about her experiences with HD and many other topics to groups of all ages. Lori has three adult children and lives with her husband Chris in Wisconsin, when they aren’t escaping north to the Upper Peninsula of Michigan. “Spared: A Memoir of Risk and Resolve” is her first book. Resources: Lori Jones’ Website Spared: A Memoir of Risk and Resolve Help 4 HD International International Huntington Association Huntington’s Disease Society of America Information on uniQure Take Our Listener Survey and Direct Future Episodes! https://tinyurl.com/mr3kcm6b Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In the realm of genetic counseling, understanding and support are crucial for families facing daunting medical news. When I sat down with Anna Chassevent, a seasoned genetic counselor, she shared valuable insights about the importance of walking alongside families during their journeys through uncertain medical terrain. In this post, we’ll explore her thoughts on meaningful communication, the role of personal experience in counseling, and how to foster a supportive environment for families in need. Key words: genetic counseling, living well, meaning, resilience, uncertainty, patient experience, psychosocial support, healthcare, mental health, genetic diagnosis Key Takeaways: The importance of walking alongside families through unknowns Integrating personal lived experience into clinical practice Making meaning of challenging news and decisions The role of hope, resilience, and living well Guest Bio: Anna is a board certified genetic counselor at the Kennedy Krieger Institute, specializing in pediatric neurogenetics. She graduated from The Johns Hopkins/National Institutes of Health Genetic Counseling Training program. She is also an associate professor, guest lecturer, student mentor, and published research author. She is passionate about supporting families in living well no matter their or their child’s diagnosis through uncovering what is meaningful to them, holding onto their strengths, and recognising their freedom and responsibility amidst life’s unexpected challenges. Anna has received training in a range of counseling methods and frequently incorporates logotherapy into her practice. In 2020, Anna was nominated by a patient for the esteemed Heart of Genetic Counseling Award. She is also a cancer survivor and parent to a child with developmental and behavioral delays, which has profoundly shaped how she cares for the families she sees. Resources: “ Man’s Search for Meaning ” book by Viktor Frankl What is logotherapy? Findageneticcounselor.org to search for a genetic counselor near you Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this conversation, Kate talks to Shannon Wieloch about the complexities surrounding therapeutic abortions, particularly in the context of heartbeat laws and genetic counseling. They explore the emotional and medical implications of these decisions, the role of genetic testing, and the impact of legislation on patient care. Shannon shares her experiences working with patients facing difficult choices in wanted pregnancies, emphasizing the need for compassion and understanding in these situations. Keywords: abortion, therapeutic abortion, heartbeat laws, genetic counseling, patient care, emotional support, healthcare legislation, prenatal care, reproductive rights Key Takeaways: The emotional weight of decisions surrounding pregnancy choices is profound. Heartbeat laws often prioritize legal definitions over medical realities. Genetic testing can provide crucial information but is not always necessary. Patients often face significant emotional and financial burdens when seeking care. Legislation can complicate access to necessary medical procedures. Many patients feel isolated in their experiences of making pregnancy decisions. Guest Bio: Shannon M. Wieloch, MS, CGC, is a board-certified genetic counselor with more than 24 years of clinical and industry experience across reproductive, prenatal, infertility, and genomic medicine. She currently serves as Director of Genetic Counseling at Fairfax Cryobank and is the founder of Stork Genetics, LLC, where she provides patient-centered genetic counseling. Shannon has served in senior clinical, product, and program management roles at Genome Medical, Mayo Clinic, CooperGenomics, and major academic medical centers. She has authored numerous peer-reviewed and professional publications, blog posts, and educational resources, and has regularly contributed to national conferences, podcasts, and professional committees within the National Society of Genetic Counselors. Here are more resources related to today’s topic: Links to Shannon’s pages: https://www.facebook.com/storkgenetic/ https://www.instagram.com/storkgenetics/ https://www.linkedin.com/company/stork-genetics “ What You Need to Know About ‘Fetal Heartbeat’ Bills ” by Madison Feller, Elle, published May 7, 2019 “ Doctors’ organization: calling abortion bans ‘fetal heartbeat bills’ is misleading ” from The Guardian Center for Reproductive Rights National Network of Abortion Funds Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this heartfelt interview, Abby Milburn shares her journey as a mother of a child with Down syndrome and Sanfilippo syndrome, a rare neurodegenerative disease. She discusses diagnosis challenges, advocacy efforts, and the importance of research and policy changes to support children with rare diseases. Sanfilippo syndrome, Down syndrome, rare diseases, medical advocacy, genetic testing, FDA approval, gene therapy, medical research, advocacy, rare pediatric treatments Key Topics: Sanfilippo syndrome diagnosis and symptoms Challenges in medical advocacy and policy The role of genetic testing and family history Impact of FDA approval process on treatments Importance of awareness and community support Abby Milburn is a wife and stay at home mom to four children 5 years old and under. Her oldest daughter, Lottie, is extremely unique as she has both Down syndrome and Sanfilippo Syndrome. Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615 Instagram and Facebook handle: @letssavelottie Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615 Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/ Senate Hearing Special Committee on Aging: From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation UX111 Gene Therapy for Sanfilippo syndrome type A Ask Congress to urge the FDA to take swift action on rare disease treatments Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Chronic pain, invisible illness, Black health. In this conversation, Wunmi Bakare shares her profound journey living with sickle cell disease, detailing the challenges and triumphs she faced from childhood through adulthood. She discusses her experience with a stem cell transplant, the impact it had on her life, and the ongoing challenges she navigates post-transplant. Wunmi emphasizes the importance of patient advocacy, the need for compassionate healthcare, and the creation of Sickle Cell Prodigy, an organization aimed at supporting individuals with sickle cell disease and their families. The conversation highlights the resilience of patients and the importance of community support in managing chronic illnesses. Key Takeaways: Living with sickle cell involves navigating stigma and misunderstanding. A stem cell transplant can significantly change a patient's life. Post-transplant, patients still face challenges and pain management. Advocacy is crucial for patients with invisible illnesses. Compassionate care from providers can improve patient experiences. Sickle Cell Prodigy aims to support patients and caregivers alike including Pre=Therapy Warriors and Post-Therapy Survivors. Wunmi Bakare is a multicultural citizen and pioneering advocate in the sickle cell and rare disease community, known for her commitment to inclusion and stigma eradication. With a fervent dedication to advancing awareness and understanding, Bakare leverages both proactive and reactive media engagement to transform perceptions of sickle cell disease. Her lived experience fuels her advocacy and informs her leadership roles on the advisory boards for the National Health, Lung & Blood Institute, the American Board of Medical Specialties, Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, Fulcrum, and Healthful Data as well as her board memberships with the Sickle Cell Knowledge & Information Network, Sickle Cell Disease Partnership, and The Gift of Adoption Fund. Diagnosed with the severe HbSS form of sickle cell disease at just 18 months old, Bakare's grueling journey led her to participate in a groundbreaking clinical trial at the NIH, culminating in a successful allogeneic stem cell transplant in 2019. Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a patient-driven nonprofit organization dedicated to redefining survivorship for individuals living with sickle cell disease who are exploring or recovering from transformative therapies, including bone marrow transplant and gene therapy. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: Sickle Cell Prodigy website Though The Genes Podcast Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Primary Care and Genetics: Bringing DNA Into Everyday Healthcare. Primary care is often the first stop in healthcare—but where does genetics fit in? We unpack what’s realistic, what’s hype, and what patients and clinicians should actually expect. This conversation explores the integration of genetics into primary care, highlighting the importance of genetic testing and counseling in improving patient outcomes. The speakers discuss the evolving role of primary care physicians in addressing genetic health, the need for collaboration with genetic counselors, and the growing awareness among patients regarding genetic testing. They emphasize the necessity of ongoing education and advocacy for genetic professionals within the healthcare system. Key Takeaways: Genetic testing can aid in preventative care and early diagnosis. Patients often bring their own genetic testing results to primary care. Genetic counseling can support primary care physicians in managing genetic concerns. Integration of genetics into primary care can improve patient outcomes. Genetic testing is not a one-time event; it may require re-evaluation. Patients are becoming more informed and proactive about genetic health. Collaboration between genetic counselors and primary care is essential. Mylynda B. Massart, M.D., Ph.D., is a board-certified Family Medicine physician at UPMC, and associate professor at the University of Pittsburgh. She currently serves as the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic and as the Associate Director of Clinical Services for the Institute for Precision Medicine. Dr. Massart is co-director of the HUB Core over Research Inclusivity and Community Partners Core at the Clinical and Translational Science Institute (CSTI). Her research interests are in developing education in genetics and precision medicine for primary care providers and trainees and being a research catalyst facilitating the inclusion of underrepresented populations in biomedical research. She teaches residents and medical students in her clinic and at the hospital and serves as medical director for Bethany Hospice. Currently, Dr. Massart is one of the co-investigators for the All of Us Pennsylvania research project working on community education and engagement. In addition, she is working as a co-investigator to create the local Discovery Biobank at the University of Pittsburgh and developing systems to return precision medicine results to providers and patients. Dr. Massart leads the Community Engagement Alliance Consultative Resource (CEACR), a partnership between the University of Pittsburgh CTSI and Community-Campus Partnerships for Health. Natasha Berman (she/her) MA, MS, MPH, CGC is a clinical genetic counselor at the UPMC Department of Family Medicine who works within the primary care precision medicine clinic. She provides direct patient care to patients for a variety of indications. She has coauthored multiple textbook chapters covering family medicine genetic topics. Her primary areas of research include improving equitable genetics care. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Access to Genetic Counselor Services Act Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Building support, navigating the emotional journey of having a medically complex child. In this conversation, Madeline Cheney discusses her journey as a parent of a child with a rare genetic condition and the creation of her podcast, The Rare Life. She emphasizes the importance of building a community for parents facing similar challenges, the emotional impact of being a carrier of a genetic condition, and the role of advocacy in medical care. Madeline shares her experiences with grief, resilience, and the need for self-care, while also outlining the future goals of her nonprofit organization to support families in the NICU and beyond. Key Takeaways: The Rare Life podcast was created to build a community for parents of children with disabilities. Navigating a rare diagnosis can be overwhelming, but support from others is vital. Advocacy is essential in medical care for children with disabilities. Building resilience is a gradual process for parents facing challenges. Madeline is the host and founder of The Rare Life, a nonprofit podcast and community for parents of people with medical complexities and disabilities. She is mom to 10 year old Wendy and 7 year old Kimball who has a rare syndrome. Her experiences navigating medical complexities with zero community inspired the creation of The Rare Life. When she isn't hanging out with her family or working, she loves soaking in a hot bath with a good book or watching an old episode of Murder She Wrote. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: The Rare Life website and podcast Remember the Girls - advocating for females impacted by X-linked conditions Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Aging, genetics, and lifestyle. In this conversation, Daniel Tausan discusses the concept of longevity, focusing on biological age, biomarkers, and the interplay between genetics and lifestyle. He emphasizes the importance of understanding biological age as a measure of health rather than just chronological age. The discussion covers various biomarkers, the significance of blood tests, and how lifestyle choices impact aging. Daniel also touches on the role of telomeres, lifestyle habits for longevity, and the latest breakthroughs in longevity science. Philosophical perspectives on aging and the future of longevity research are explored, highlighting the importance of quality of life and the need for a cultural shift in how we view aging and death. Key Takeaways: Biological age is a measure of health, not just chronological age. Understanding biomarkers can help assess health and aging. Genetics and lifestyle both play crucial roles in aging. Telomeres are important but not the sole factor in aging. Quality of life is essential in discussions about aging. Daniel Tausan holds a graduate degree from the University of British Columbia in Stem Cell Biology with a Bachelor of Science in General Biology. He worked in research in the molecular profiling of exercise, looking into comprehensive blood panels in search of biomarkers for predictive health analytics with Molecular You and UBC’s School of Kinesiology to develop methods for biological age calculation. He spent his early 20s with the Canadian National Waterpolo Team and coached the next generations of athletes to participate in the youth Pan-American games and World Championships. He personally trained clients for general fitness goals and athletic performance and continued to share the biological knowledge of the molecular world from his scientific pursuits. Asthma, allergies and gastrointestinal challenges throughout his early years kept him eager to explore regenerative principles and the healthcare systems. Although the academic and industry surrounding the molecular biological revolution were exploding few professionals were present to help the public interact and integrate with the newfound biological knowledge. With a love for education and working directly with people he stepped away from academics. He launched Timeline Sciences to put “you” on the timeline aligned with your unique genome and goals. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: Daniel’s website, Timeline Sciences “ Achieving health human longevity: A global grand challenge ” Science Translational Medicine journal “ Healthy lifestyle in late-life, longevity genes, and life expectancy among older adults: a 20-year, population-based, prospective cohort study ” The Lancet “ The validity of Blue Zones demography: a response to critiques ” The Gerontologist Ageing and health - an article from the World Health Organization Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Flexibility, pain, and fatigue are part of hypermobility EDS. In this conversation, Dr. Taylor Kerrins discusses Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS, covering its definition, symptoms, diagnosis, and management strategies. He shares personal experiences with the condition, the challenges of obtaining a diagnosis, and the importance of physical therapy and exercise. The discussion also touches on genetic testing and available support resources for patients. Taylor emphasizes the need for ongoing research and understanding of EDS, highlighting the complexities of the condition and the importance of community support. Key Takeaways: EDS is a connective tissue disease with various types. Joint dislocations are common in individuals with hypermobile EDS. There is no specific genetic test for hypermobile EDS. Exercise is extremely helpful but must be tailored to the individual.. Support groups provide valuable resources and community for EDS patients. Ongoing research is essential for understanding EDS better. Dr. Taylor Kerrins is a Clinical Assistant Professor of Medical Genetics & Genomics at the Medical University of South Carolina. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: The Ehlers Danlos Society Information on hEDS from the Marfan Society American Academy of Family Physicians handout from 2021 The Norris Lab at MUSC Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.