Rare Disease Day at NIH

Rare Disease Day at NIH

Rare Disease Day® takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Since 2011, NCATS has sponsored Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect and NIH collaborations that address scientific challenges and advance research for new treatments.

The goals of Rare Disease Day at NIH are to:

• Demonstrate the NIH commitment to advancing research for people affected by rare diseases.
• Highlight NIH-supported rare diseases research and the development of diagnostics and treatments.
• Initiate a mutually beneficial dialogue among the rare diseases community.
• Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.
• Shine a spotlight on stories told by patients living with a rare disease, their caregivers, and their communities.

Event Details

Rare Disease Day at NIH will be held at NIH Main Campus (Natcher Conference Center) on Monday, March 1, 2027, from 9 a.m. to 5 p.m. EST. The event agenda will feature panel discussions, rare diseases stories, in-person exhibitors and scientific posters, and an art exhibition. The event is free and open to the public. View last year's event through the NIH VideoCast.

NCATS and Rare Diseases Research

Progress in data science and an increased understanding of disease genetics lead experts to agree that more than an estimated 10,000 rare diseases are affecting millions of people in the United States. Rare diseases often are difficult to diagnose — it can take years. Even after an accurate diagnosis, treatment often is not available because approximately 5% of rare diseases have treatments that are approved by the U.S. Food and Drug Administration (FDA). Health care expenses for Americans with rare diseases are three to five times greater than for those without rare diseases, resulting in a total economic burden approaching $1 trillion annually.

NCATS is committed to using research to address the public health crisis presented by rare diseases. Under the center's Strategic Plan for 2025–2030, NCATS is focused on advancing the development of and access to more treatments — particularly for rare diseases and other conditions with unmet needs — by making drug discovery more rigorous, reproducible and data-driven, and by applying artificial intelligence and machine learning to speed the translation of biological and chemical discoveries into therapies.

All NCATS offices and divisions advance the development of and access to more treatments, particularly for diseases with unmet needs. Our Division of Rare Diseases Research Innovation (DRDRI) facilitates and coordinates NIH-wide research activities, including the Rare Diseases Clinical Research Network (RDCRN) and the Bespoke Gene Therapy Consortium (BGTC). Now in its fifth funding cycle, RDCRN supports 15 active clinical research consortia that partner with more than 100 patient advocacy groups to study rare diseases at sites across the country. BGTC is a public-private partnership with the FDA and the Foundation for the NIH that is working to streamline gene therapy development and regulatory pathways for rare diseases with no approved treatments.

DRDRI also works closely with NCATS' Division of Preclinical Innovation (DPI) on programs with wide-ranging impact in the rare disease space, including the Platform Vector Gene Therapy (PaVe-GT) pilot project, which is testing whether a shared vector platform can increase efficiency in preclinical testing and clinical trial start-up for gene therapies. In addition, DPI leads the NCATS Therapeutics for Rare and Neglected Diseases (TRND) program, which has helped advance more than 40 promising rare disease treatments into clinical trials, including a gene therapy for a rare genetic brain disorder that has since received FDA approval.

NCATS-supported science also is helping drive some of the field's most significant recent breakthroughs. In 2025, a team of investigators at Children's Hospital of Philadelphia and Penn Medicine developed and delivered the first personalized CRISPR gene-editing therapy for an infant known as "Baby KJ," who was born with a life-threatening urea cycle disorder. This work was supported in part of the NIH Common Fund’s Somatic Cell Genome Editing initiative (SCGE), co-coordinated by NCATS and NINDS. The SCGE program also supported research on gene editing platform trials that led directly to a new FDA regulatory guidance Plausible Mechanism Framework for Individualized Therapies: FDA.

Other NCATS rare disease research efforts include i3D Rare NCATS i3D-Rare Workshop which develops 3-D cell models from patient samples to more accurately mimic rare disease biology, and the Oligonucleotide Toxicity (OligoTox) Open Data Challenge which aims to incentivize publicly available safety data for oligonucleotide-based therapeutics.

Learn more about NCATS’ rare diseases research programs and our impact on rare diseases.