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Knowing the Name of a Gene Can End Your Diagnostic Odyssey and Begin the Search for Treatment

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Speakers

E. Gay Grossman
Co-Founder @ADCY5.org
E. Gay Grossman is a rare disease parent and co-founder of ADCY5.org, the non-profit foundation for ADCY5-related dyskinesia. ADCY5.org supports families affected by the disease, clinicians who are seeing the disease for the first time, and world-renowned researchers who study the gene and its variants. Gay and her husband started ADCY5.org with one patient, their daughter, and have since helped build a community to support hundreds of adults and children affected by this disease.
Annapurna Poduri, MD, MPH
Professor and Director of the Neurogenetics/Epilepsy Genetics Programs @Harvard Medical School, Boston Children's Hospital
Annapurna Poduri, MD, MPH is Professor of Neurology at Harvard Medical School and Director of the Neurogenetics and Epilepsy Genetics Programs at Boston Children’s Hospital. Dr. Poduri’s laboratory team studies germline and somatic mosaic causes of epilepsy, models genetic neurodevelopmental epilepsies in zebrafish and other model systems, and strives for precision diagnosis and treatment for patients with epilepsy in concert with her clinical team. Dr. Poduri serves as a mentor for students, clinicians, and researchers with a focus on rigorous, collaborative translational science relevant to patients with epilepsy.