Rare Disease Day at NIH 2022

 

The Economic Burden of Rare Diseases


Read an article co-authored by NCATS Acting Director Joni L. Rutter, Ph.D., that summarizes recent studies and reports on the estimated $1 trillion collective cost burden posed by rare diseases and recommends next steps to address challenges.

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 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.

Join NCATS for a Rare Diseases Twitter Chat


NCATS will host a Twitter chat on Feb. 24, 2–3 p.m. EST, to encourage individuals affected by rare diseases to share their stories and offer organizations the opportunity to share helpful resources. The chat will feature NCATS leadership and several other experts! Follow NCATS’ Twitter account and use #NIHchat.

Event Details

Rare Disease Day at NIH 2022 information banner

Rare Disease Day at NIH was held virtually on Monday, Feb. 28, 2022, from 10 a.m. to 6 p.m. EST. This event featured panel discussions, rare diseases stories, virtual exhibitors and scientific posters. The event app will be available until May to browse exhibits and scientific posters.

Rare Disease Day at NIH sought to bring together a broad audience including patients, patient advocates, caregivers, health care providers, researchers, trainees, students, industry representatives and government staff.

Partners in Planning

Planning committee members included representatives from NCATS; 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; and United BioSource LLC.

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. Learn more about NCATS’ rare diseases efforts and resources.

Learn more about past Rare Disease Day at NIH events.

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.

Rare Disease Day 2018 Poster Presenters

An image of Niclas Flysjö and Jessica Lindqvist’s children and the couple speaking at virtual Rare Disease Day at NIH on March 1, 2021. The couple’s three young children participated in an NIH sponsored trial for GM1 gangliosidosis in early 2020. (NCATS)

About 7,000–10,000 rare diseases affect humans, of which only a few hundred have any treatment. In the United States, each rare disease affects fewer than 200,000 individuals; however, in total, these illnesses affect an estimated 30 million people nationwide. 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 fewer than 5% 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 translation, 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.