Diseases Studied
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 > Tuberous sclerosis complex
Tuberous sclerosis complex (TSC)
Disease Category: Developmental Synaptopathies
A genetic condition that affects many organs and can cause tumors in the skin, kidney, brain, heart, eyes, lungs, and other organs. The severity of TSC can range from mild, such as skin abnormalities, to severe, such as seizures, intellectual disability, or renal failure. The most common symptoms of TSC are seizures and developmental delay as well as benign tumors and skin lesions. TSC can affect virtually every organ system of the body. In many instances, symptoms of TSC will be apparent in the first six months of life.
Research groups studying this disease
Developmental Synaptopathies
Developmental Synaptopathies Consortium (DSC)
TSC Alliance
Aims to improve the lives of people with tuberous sclerosis complex (TSC) by driving research, improving care and access, and advocating for all.