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. Each year, NCATS and the NIH Clinical Center sponsor 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 research collaborations under way to address scientific challenges and to advance 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 public and private researchers, patients, patient advocates and policymakers.
- Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.
- Put a face on rare diseases by sharing stories of patients, their families and their communities.
Rare Disease Day at NIH 2020
Rare Disease Day at NIH 2020 took place on Friday, Feb. 28. The event featured interactive panel discussions and more:
- Shortening the diagnostic odyssey.
- Individualized therapies and personalized medicine.
- Expanding and improving access to rare diseases knowledge.
- Inspiring stories through TED-style talks.
- NIH Town Hall question-and-answer session.
- NIH clinical trial resources.
- Posters and exhibits by rare disease groups and researchers.
- Artwork and tours of the NIH Clinical Center and National Library of Medicine.
This free event was open to the public, including patients, patient advocates, health care providers, researchers, industry representatives and government employees.
Partners in Planning
Planning committee members included representatives from NCATS, the NIH Clinical Center, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Cancer Institute, the National Heart, Lung, and Blood Institute, the National Human Genome Research Institute, the National Institute of Neurological Disorders and Stroke, the National Organization for Rare Disorders, the Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups, the U.S Food and Drug Administration and The Children’s Inn at NIH.
About Rare Disease Day at NIH
EURORDIS sponsored the first Rare Disease Day in Europe on Feb. 29, 2008. The United States joined the first global observance the following year along with 23 other countries. Visit Rare Disease Day® for more information.
Each year, the slogan for NIH’s event has been “Patients & Researchers — Partners for Life.” This slogan aligns with NCATS’ philosophy that researchers must work closely with patients, families, caregivers and advocacy groups to maximize the chances for success in advancing rare diseases research. This philosophy has been put into practice in NCATS’ Toolkit for Patient-Focused Therapy Development, Rare Diseases Clinical Research Network, Therapeutics for Rare and Neglected Diseases program, Rare Diseases Registry Program (RaDaR) and Genetic and Rare Diseases Information Center, among other efforts.
NCATS and Rare Diseases Research
About 7,000 rare diseases affect humans, of which only a few hundred have any treatment. Although each rare disease affects fewer than 200,000 Americans, in total, these illnesses affect an estimated 30 million people in the United States. Since rare diseases often are difficult to diagnose, it can take years to obtain an accurate diagnosis. Even after a proper diagnosis, treatment often is unavailable, because only about 5 percent of rare diseases have a treatment approved by the Food and Drug Administration.
As a result, rare diseases are devastating and costly for patients, their families and the nation as a whole. Most rare diseases are serious or life-threatening, chronic and progressive disorders that place substantial medical and financial burdens on patients and their families.
Through its work to improve the science of collaboration, NCATS supports collaborative and innovative approaches to research on rare diseases. These efforts have the potential to speed development of treatments for multiple rare diseases and ultimately help more patients more quickly.