91 – SYNGAP1 Natural History Study/ Multidisciplinary Clinic at Children’s Hospital Colorado

Dr. Megan Abbott is a pediatric epileptologist at Children’s Hospital Colorado, embarking on a career in clinical research focused on outcome measures in developmental and epileptic encephalopathies (DEE), including SYNGAP1. She aims to establish new multi-disciplinary clinics, generate gene-specific datasets, and devise outcome measures applicable to various DEE populations. Having grown up with a brother with special needs, she has both a personal and professional connection to working with rare disease families. She is excited to begin this work in SYNGAP1 with the hope that we can advance towards clinical trial readiness and disease modifying therapies.