The COVID-19 pandemic has profoundly affected nearly every aspect of the rare disease world. The greatest impacts of the pandemic, however, have been felt by the patients themselves and their families. Read a reflection on this year’s Rare Disease Day at NIH to hear from patients in the rare disease community and what we learned.
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 underway 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 2021
Rare Disease Day at NIH was held virtually on Monday, March 1, 2021, from 10:30 a.m. to 5:30 p.m. EST. The event featured interactive panel discussions, rare stories through TED-style talks and more.
The event was free and open to the public, including patients, patient advocates, health care providers, researchers, trainees, students, industry representatives and government employees.
Partners in Planning
Planning committee members included representatives from NCATS, NIH Clinical Center, the National Cancer Institute, the National Heart, Lung, and Blood Institute, the National Human Genome Research Institute, 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 (FDA) 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
Watch: Child Neurologist Shares How Translation Can Improve Outcomes for Rare Neurodevelopmental Disorders
Child neurologist Mustafa Sahin, M.D., Ph.D., who is part of the NCATS-led Rare Diseases Clinical Research Network, shares how advances in translation helped his team provide new treatments to young patients with rare neurodevelopmental disorders.
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 FDA.
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. NCATS' Office of Rare Diseases Research (ORDR) facilitates and coordinates NIH-wide activities involving research for a broad array of rare diseases. These efforts have the potential to speed development of treatments for multiple rare diseases and ultimately help more patients more quickly. Learn more about ORDR and NCATS' rare disease research programs and access shareable resources to help raise awareness about rare diseases.