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.

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 FDA-approved treatments. Research led by NCATS suggests that nationwide medical costs for individuals with rare diseases are likely as high as those faced by people with common diseases, such as cancer and heart failure.

NCATS is committed to using research to address the public health crisis presented by rare diseases. NCATS Director Joni Rutter recently wrote about using translational science to make progress in rare diseases research, including in understanding rare disease biology and therapeutic targets and in building platform approaches that advance drug discovery and development.

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, the Bespoke Gene Therapy Consortium, and the NIH Common Fund’s Somatic Cell Genome Editing initiative. DRDRI also works closely with NCATS’ Division of Preclinical Innovation (DPI) on programs and projects with potentially wide-ranging impacts in the rare disease space, including the Platform Vector Gene Therapy pilot project. In addition, DPI leads the NCATS Therapeutics for Rare and Neglected Diseases program, which has enabled more than 40 promising rare disease treatments to enter into clinical trials. DPI is also co-leading a new partnership with other NIH institutes and centers to develop a proposed clinical trial for a rare metabolic disease.

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