The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Developmental Synaptopathies
Disease Category: Developmental Synaptopathies
Developmental synaptopathies are rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. The Development Synaptopathies Consortium (DSC) studies Tuberous Sclerosis Complex (TSC), Phelan-McDermid Syndrome (PMS), and PTEN Hamartoma Tumor Syndrome (PHTS).
Research groups studying this disease
Developmental Synaptopathies Consortium (DSC)View Disease Definition
7901: Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
Phelan-McDermid Syndrome Foundation
Aims to improve quality of life of those affected by Phelan-McDermid syndrome (PMS) by providing support, accelerating research, and raising awareness.
PTEN Hamartoma Tumor Syndrome Foundation
Funds research, provides education, and supports those affected by PTEN hamartoma tumor syndrome (PHTS).
PTEN Research Foundation Ltd
Funds and facilitates global research that will lead to new and better treatments for PTEN hamartoma tumor syndrome.
Aims to improve the lives of people with tuberous sclerosis complex (TSC) by driving research, improving care and access, and advocating for all.