All Access DNA

In today's conversation, Kate Wilson welcomes Emalyn Cork to explore the complexities of the MTHFR gene, a topic that has sparked curiosity and confusion alike in both clinical settings and the general public. Emalyn explains the complexities of the MTHFR gene, debunks common misconceptions, and discusses when genetic testing is truly necessary.   Key words: MTHFR, genetics, homocysteine, genetic testing, medical misinformation, folic acid, genetic variants, health risks, clinical utility, genetic counseling   Key Topics: What the MTHFR gene does in the body Common misconceptions about MTHFR variants When genetic testing for MTHFR is clinically relevant Risks of unnecessary genetic testing and treatments How to interpret genetic test results responsibly   Guest bio: Emalyn is the Assistant Director of Genetic Counseling at Emory Healthcare. She works with pediatric and adult clinical genetics patients in the inpatient and outpatient settings. She graduated from Mount Sinai's genetic counseling training program in 2018 and worked as a genetic counselor in their clinic for inborn errors of metabolism before moving to Atlanta to join Emory's team in 2021. She has a special interest in metabolic and mitochondrial diseases and is passionate about the education and mentorship of genetics trainees.     Resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Information on MTHFR from Cleveland Clinic   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 [email protected]   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. Betty Cohn discusses the complexities, ethical considerations, and current state of polygenic embryo screening and risk scores, highlighting the scientific, ethical, and societal challenges involved.   Key words: polygenic embryo screening, genetic testing, reproductive ethics, risk scores, embryo selection, genetic diversity, clinical validity, reproductive autonomy, bioethics   Key Topics: What polygenic embryo screening is and how it differs from single-gene testing The probabilistic nature of polygenic risk scores and their limitations Ethical implications of embryo selection based on risk scores Disparities and biases in polygenic risk scoring across ancestry groups The influence of commercial companies and lack of regulation in direct-to-consumer genetic testing The impact of societal values in embryo selection   Guest bio: Betty Cohn is a postdoctoral fellow working with Dr. Anna Wexler at the University of Pennsylvania. She holds a PhD in Public Health Genetics from the University of Washington, a Master of Bioethics from the Johns Hopkins Berman Institute of Bioethics, and a B.A. from Binghamton University. Her research examines the ethical, legal, and social implications of emerging biotechnologies, including direct-to-consumer genetic testing, brain organoids, and polygenic risk scores. Her doctoral dissertation used qualitative methods to explore how individuals who discover a misattributed parentage experience through genetic testing navigate these findings, with a focus on online communities as sources of social support. LinkedIn: https://www.linkedin.com/in/bettycohn/ Twitter/X: @bettyccohn Resources related to today’s topic: “Ethical and social implications of implementing polygenic embryo screening into clinical care: A scoping review” by Betty Cohn, Dorit Barlevy, Gabriel Lazaro-Munoz “Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in” by Susan Brown Trinidad, Stephanie M Fullerton, Betty Cohn, David R Crosslin, Gail P Jarvik “Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations” by Martin et al.   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 [email protected]   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, 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 [email protected]   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 [email protected]   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 [email protected]   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.