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Who We Are
The Developmental Synaptopathies Consortium (U54NS092090) is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Division of Rare Diseases Research Innovation (DRDRI), National Center for Advancing Translational Sciences (NCATS). This consortium is funded through collaboration between NCATS, and the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health. We are a multi-center consortium with the goal of developing the largest and most comprehensive natural history studies for tuberous sclerosis complex (TSC), Phelan-McDermid syndrome (PMS), and hamartoma tumor syndrome (PTEN). The goal of these studies is to gain a better understanding of autism/intellectual disability in individuals with TSC/PMS/PTEN so that effective treatments and interventions can be found. We have been a member of the RDCRN since 2014 and have made incredible progress in understanding these rare diseases and developing clinical trials for our patient populations.