Working together to improve the lives of patients and families affected by Developmental Synaptopathies

Join One of Our Research Studies
Participants make it possible for researchers to find new treatments, speed up diagnosis, and improve the lives of those affected by rare diseases.
Find a StudyUpdating Guidelines for Clinical Management of Phelan–McDermid Syndrome
A taskforce of clinicians and parents of individuals with Phelan-McDermid syndrome have collaborated to update guidelines for clinical management.

Rare Research Report: August 2023
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications.

Rare Research Report: February 2023
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research.

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