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.

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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?

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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.