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Rare Disease Day at NIH Is Thursday Feb 28, 8:30 am-4:00 pm EST; NIH Director Francis Collins to Speak at 10:45 am; Pre-Meeting Twitter Chat Is Friday, Feb 22, 1-2 pm EST

Rare Disease Day at NIH (, will be held this year on February 28, 2019, from 8:30 am to 4:00 pm in the Main Auditorium of the Natcher Conference Center, Bldg. #45, on the main NIH campus in Bethesda, Maryland. The center will open at 7:30 am for registration and poster/booth setup. The event is free, but pre-meeting registration is requested ( The event is open to the public, including patients, patient advocates, health care providers, industry representatives, and government employees. In association with Global Genes®, participants are encouraged to wear their favorite pair of jeans. The aims of Rare Disease Day at NIH 2019 are to raise awareness about rare diseases, about the people they affect and NIH research collaborations under way to address scientific challenges, and to advance new treatments. The goals 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; and to put a face on rare diseases by sharing stories of patients, their families, and their communities. Sponsored by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center (CC), this year’s event will feature interactive panel discussions on collective research models for rare diseases, patient registries, rare cancer research initiatives, and "no disease left behind, no patient left behind." At the meeting, NIH Director Francis Collins, MD, PhD, is currently scheduled to present remarks at 10:45 am. New this year will be a presentation of the first ever Zebbie award for the NCATS Rare Diseases Are Not Rare! Challenge ( Other highlights include posters and exhibits by rare disease groups and researchers as well as artwork, videos, and CC tours. If you cannot attend the meeting in person, you may view it via webcast ( year, a pre-meeting NIH/NCATS Twitter chat has been arranged to take place on Friday, Feb 22, from 1 pm-2 pm EST. You may join this Twitter chat, using #NIHchat. Additionally on social media, you may also follow @ncats_nih_gov (link is external) and @ORDR (link is external) on Twitter, and use #RDDNIH to join the conversation!


Approximately 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. Because rare diseases are often difficult to diagnose, it can take years to obtain an accurate diagnosis. Even after a proper diagnosis, treatment is often 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 health through smarter science, 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.


Planning committee members for Rare Disease Day at NIH 2019 include representatives from NCATS, the CC, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Cancer 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 Food and Drug Administration, and The Children’s Inn at NIH.

Event participants and partners include representatives from the Alpha-1 Foundation; the American Partnership for Eosinophilic Disorders; the Barth Syndrome Foundation; Beyond the Diagnosis; the Campaign Urging Research for Eosinophilic Disease; the Consortium of Eosinophilic Gastrointestinal Disease Researchers; Count Me In; the Developmental Synaptopathies Consortium; the Eosinophilic Family Coalition; the EveryLife Foundation for Rare Diseases; Genetic Alliance; Global Genes®; the Inherited Neuropathies Consortium; the International Rare Diseases Research Consortium; Massachusetts General Hospital; My Pediatric and Adult Rare Tumor Network; the National Heart, Lung, and Blood Institute; Rare Disease Legislative Advocates; Sarcoma Alliance for Research through Collaboration; TargetCancer Foundation; the Tuberous Sclerosis Alliance; and the Vasculitis Foundation.
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 (CC) sponsor Rare Disease Day at NIH as part of this global observance. This year’s global theme is “bridging health and social care.”

[Rare Disease Day at NIH 2019]
[Tentative Agenda]