Developmental Synaptopathies Consortium (DSC)

Autism spectrum disorder (ASD) affects 1 in 59 children in the United States and is a major public health concern and challenge. The Developmental Synaptopathies Consortium (DSC) aims to explore the underlying causes of autism by focusing on three rare genetic disorders related to ASD, including Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Tumor Syndrome (PHTS) and Phelan-McDermid Syndrome (PMS). Understanding the pathophysiology of these rare disorders will lead to the discovery of therapeutic targets, which is the long-term goal of the DSC. The vast data and deep phenotyping of participants with TSC, PTEN and PMS collected to date will be further expanded in this new cycle of the project to include collection of data into adulthood for each disorder. This will allow for additional understanding of the trajectory of each disease and inform not only the research and clinical community, but also other groups that support and educate people affected by these disorders. Additionally, the electrophysiological investigation of these three related diseases will help in the exploration of translational biomarkers and new therapeutic strategies.

The Dystonia Coalition (DC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). DC is funded under grant number U54NS116025 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS). Funding support for the DMCC is provided by NCATS and NINDS.