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.

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Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) logo

November 1, 2022

The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium is a group of scientists, clinicians, patients, families, and…

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Headshot of Stephanie Sacharow, MD

October 25, 2022

Stephanie Sacharow, MD, is a medical geneticist in the Division of Genetics and Genomics at Boston Children’s Hospital and an assistant professor at…