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 StudyPhelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study
To learn more about Phelan-McDermid syndrome, the Developmental Synaptopathies Consortium is conducting a natural history study, “Mapping the Genotype, Phenotype, and Natural History of PMS.”
National Survey Reveals Impact of COVID-19 on People Living with Rare Diseases and Their Families
The devastating impact of COVID-19 on the general population is well-documented—but less is known about the millions of people living with rare diseases.
Join the RDCRN for Rare Disease Day at NIH on February 29, 2024
Don’t miss the in-person and virtual celebration of Rare Disease Day at NIH on Thursday, February 29, 2024, from 9 am to 5 pm EST.
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