Rare Disease Day at NIH 2023
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 and the NIH Clinical Center have 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 helping people with rare diseases through research.
- 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 people living with a rare disease, their families and their communities.
- Bring together a broad audience including patients, patient advocates, caregivers, health care providers, researchers, trainees, students, industry representatives and government staff.
Rare Disease Day at NIH was held at NIH Main Campus (Natcher Conference Center) on Tuesday, Feb. 28, 2023, from 9 a.m. to 5 p.m. EST. The event agenda featured panel discussions, rare diseases stories, exhibitors and scientific posters.
Partners in Planning
Planning committee members included representatives from the following organizations:
- NIH Clinical Center
- National Cancer Institute
- National Heart, Lung, and Blood Institute
- National Institute on Alcohol Abuse and Alcoholism
- National Institute of Neurological Disorders and Stroke
- Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups
- U.S. Food and Drug Administration (FDA)
- The Children’s Inn at NIH
- EveryLife Foundation for Rare Diseases
- National Organization for Rare Disorders
- United BioSource LLC
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 about 30 million people in the United States. Most of these people are children. In all, nearly 10% of the U.S. population have a rare disease. Rare diseases often are difficult to diagnose — it can take years. Even after an accurate diagnosis, treatment often is not available because fewer than 500 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' Division of Rare Diseases Research Innovation (DRDRI) facilitates and coordinates NIH-wide research activities, which have the potential to speed development of treatments for multiple rare diseases and ultimately help more patients more quickly. Learn more about DRDRI and NCATS' rare diseases research programs and access shareable resources to help raise awareness about rare diseases.