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

 

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Participants make it possible for researchers to find new treatments, speed up diagnosis, and improve the lives of those affected by rare diseases.

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Rare Research Report: September 2024

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

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Rare Research Report: July 2024

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

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Phelan-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.”

Phelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study
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Learn More About Developmental Synaptopathies

Access educational materials, frequently asked questions, lectures, and more.

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