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Impact Features

Dynamic teams of physicians, researchers, patients, and patient advocates work together in each RDCRN consortium to advance rare diseases research. This page collects feature articles highlighting both the work of the RDCRN consortia and the people behind that work. Choose the consortium acronym at the top of the page to view features articles related to that consortium.

Click here for a complete list of all RDCRN consortia.

Phelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study

April 25, 2024

To learn more about Phelan-McDermid syndrome, the Developmental Synaptopathies Consortium is conducting a natural history study, “Mapping the…

Keyword co-occurrence visualization map of RDCRN-supported publications 2004–2020.

January 29, 2024

The Rare Diseases Act of 2002 (H.R. 4013) enacted the establishment of the Rare Diseases Clinical Research Network (RDCRN) in 2003.

Headshot of Kristin Anthony

August 5, 2022

Kristin Anthony is president and founder of the PTEN Hamartoma Tumor Syndrome Foundation, a patient advocacy group of the Developmental…

Headshot of Siddharth Srivastava, MD

April 21, 2022

Siddharth Srivastava, MD, is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. He is also a member of the…

Developmental Synaptopathies Consortium logo

April 14, 2022

The Developmental Synaptopathies Consortium (DSC) is a network of experts studying three rare genetic syndromes—tuberous sclerosis complex (TSC…