#57-What is Fragile X syndrome & why is it underdiagnosed?

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 (http://allaccessdna.podbean.com)   Any inquiries on the podcast can be sent to [email protected] (mailto:[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 Casey Lepley.