Improving the lives of those with phenylketonuria (PKU) through clinical research.
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Participants make it possible for researchers to find new treatments, speed diagnosis and improve the lives of those affected by rare diseases.
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Join the RDCRN for Rare Disease Day at NIH on February 27, 2026
Don’t miss the in-person and virtual celebration of Rare Disease Day at NIH on Friday, February 27, 2026, from 9 am to 5 pm EST.
NIH Announces Funding to Establish and Strengthen Rare Disease Research Groups
The National Institutes of Health (NIH) has awarded approximately $26 million in grants in the fiscal year 2025 to begin the fifth cycle of funding for the Rare Diseases Clinical Research Network (RDCRN).
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.
PHEFREE Updates
PHEFREE January 2026 Consortium Updates
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