Graphic of all Rare Disease Network Consortia

Who We Are

The RDCRN program is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study nearly 200 rare diseases at sites across the nation.

Learn About Our Consortia

Training Program for Clinical Research in Rare Disease Launches New Session

The National Institutes of Health-funded R25 Rare Disease Clinical Research Training Program is launching a new training program for clinical research in rare disease. Now in its seventh year, this year-long, hybrid, free program is designed to support new investigators in the field of rare disease clinical research.

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Screenshot from a presentation on the Rare Diseases Research R25 Curriculum Grant

Rare Research Report: November 2022

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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Rare Research Report logo

Consortium Spotlight: Advancing Discoveries in Phenylalanine Disorders

The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium is a group of scientists, clinicians, patients, families, and advocates focused on inherited disorders involving elevated blood phenylalanine. These disorders include phenylalanine hydroxylase (PAH) deficiency (also known as phenylketonuria or PKU), defects in biopterin synthesis or recycling, or deficiency of the chaperone protein DNAJC12. Here, principal investigator Cary O. Harding, MD, shares the history of the consortium, current research, and future plans.

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Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) logo
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20

Research groups funded

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200+

Diseases studied

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170

Patient advocacy partners

Training The Next Generation

Training the Next Generation of Researchers

Our consortia place a high priority on the recruitment, training and support of early career researchers due to the significant need for well-trained clinical researchers in the rare diseases field.

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Information for Patients and Families

Our network focuses on clinical research and does not generally support clinical care outside research activities. View the diseases that we currently study here. To learn about other rare diseases, visit the NIH’s Genetic and Rare Diseases Information Center (GARD), which helps the public reliable information about rare and genetic diseases. Contact their specialists at 1-888-205-2311 or email GARDinfo@nih.gov.

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NIH Funding Institutes, Centers, and Offices

Established by Congress under the Rare Diseases Act in 2002, RDCRN is an initiative of the Division of Rare Diseases Research Innovation at the National Institutes of Health’s National Center for Advancing Translational Sciences. Our network, now in its fourth five-year funding cycle, is a partnership with funding and programmatic support provided by Institutes, Centers and Offices across NIH.