Developmental Synaptopathies Consortium (DSC)

At a Glance
  • Status: Active Consortium
  • Year Launched: 2014
  • Initiating Organization: NIH Rare Disease Clinical Research Network
  • Initiator Type: Government
  • Rare disease
  • Disease focus:
    Pten Hamartoma Tumor Syndrome, Tuberous Sclerosis Complex, Phelan-McDermid Syndrome
  • Location: North America


The Developmental Synaptopathies Consortium (DSC) is composed of a group of 10 medical centers studying three rare genetic syndromes that often cause autism spectrum disorder and intellectual disability (ASD/ID), which are severe neurodevelopmental conditions with early childhood onset. Advances in genetics have indicated that ASD/ID represent a spectrum of rare disorders. While both ASD and ID have a variety of known genetic causes, some of them have been shown to impair similar cellular pathways in the brain. The three conditions to be studied by the Consortium are Tuberous Sclerosis Complex (caused by mutations in the TSC1 and TSC2 genes), Phelan-McDermid Syndrome (caused by mutations in the SHANK3 gene), and PTEN Hamartoma Tumor Syndrome (caused by mutations in the PTEN gene). These three rare diseases seem to affect certain shared pathways influencing the development of brain connections, or synapses.

Structure & Governance

This consortium is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS). The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.

Funding and scientific oversight for the RDCRN are provided by NCATS and 10 National Institutes of Health components: Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; National Heart, Lung and Blood Institute; National Institute of Allergy and Infectious Diseases; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Dental and Craniofacial Research; National Institute of Diabetes and Digestive and Kidney Diseases; the National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; and Office of the Director. In addition, patient advocacy groups provide funds for many of the projects.

Patient Engagement

The RDCRN DSC Contact Registry is a way for patients with developmental synaptopathies and their family members to learn about DSC research studies they may be able to join. Participation is completely voluntary, and participants can withdraw at any time. There is no cost to join the Contact Registry.


Journal Articles
1. Lipton JO, Sahin M. The Neurology of mTOR. Neuron. Oct 22 2014;84(2):275-291. PMID:
25374355, PMCID: PMC4223653
2. Davis PE, Peters JM, Krueger DA, Sahin M. Tuberous Sclerosis: A New Frontier in Targeted
Treatment of Autism. Neurotherapeutics: the journal of the American Society for Experimental
NeuroTherapeutics. May 19 2015. PMID: 25986747
DSC Publications V20150824

Points of Contact

Rajna Filip-Dhima, M.S.
Project Manager
Boston Children’s Hospital
300 Longwood Avenue
Boston, MA 02115

Sponsors & Partners

Boston Children’s Hospital

Cincinnati Children’s Hospital Medical Center

Cleveland Clinic

Icahn School of Medicine at Mount Sinai

National Institutes of Health

Rush  University Medical Center

Stanford University Medical Center

The University of Texas Health Science Center at Houston

University of Alabama at Birmingham

University of California at Los Angeles

Last Updated: 04/14/2016

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