2016 Rare Disease Day at NIH: “Patients and Researchers – Partners for Life”

Rare Disease Day was established in 2008 in order to raise public awareness globally for rare and orphan diseases and shed light on the challenges that those who are affected by rare diseases face.  This year, Rare Disease Day appropriately fell on the rarest day of all – February 29.

To help with this global effort, the National Institutes of Health’s (NIH) National Center for Advancing Translational Sciences (NCATS) and NIH Clinical Center annually hosts Rare Disease Day at its NIH Campus in Bethesda, MD.  This year, over 95 patient advocacy groups were in attendance, many of whom are patients themselves.  There was an electricity in the auditorium as Dr. Francis Collins, Director, NIH, provided opening remarks to kick off the event, the theme of which is “Patients and Researchers – Partners for Life.”  Speakers from NIH, the Food and Drug Administration (FDA), and the National Organization for Rare Disorders (NORD), among others, discussed the triumphs achieved in advancing research for rare diseases. The day also featured powerful stories told directly from patients and patient advocates about the challenges they face, letting others in the rare disease community know that they are not alone and that there is a strong network of advocates, researchers, and policy makers who are working every day to not only bring awareness but also, hopefully one day, a treatment.

A rare disease, by definition, affects less than 200,000 Americans, though many rare diseases and conditions affect populations much smaller than 200,000.  To date, there are between 5,000 and 7,000 rare diseases recognized globally.  While these diseases may display unique symptoms and challenges, those affected by them share many common struggles, including a lack of treatments and discoveries available.  These shared struggles help to unify the rare disease community to give them a powerful voice.

A new grant program announced during the event by the FDA’s Office of Special Medical Programs and Office of Orphan Products Development will help to amplify that voice.  The new program will fund natural history studies that will help to characterize the natural history of a rare disease or condition, identify genotypic and phenotypic subpopulations, and develop and/or validate clinical outcomes measures.  A major obstacle to developing treatments for rare conditions is a lack of understanding or information about the condition.  This grant program will help researchers better comprehend the complex nature of these conditions, forging the road ahead to advancing research and finding cures for rare diseases.

Rare Disease Day kicks off a week-long series of events across the country and world that will bring attention to the rare disease community, including a briefing on Capitol Hill and programs in over 35 U.S. state capitals.

Editor’s Note: Throughout the week of Rare Disease Day 2016, BIO will be profiling stories of those affected by rare diseases, shedding light on these diseases and the families impacted by them.  America’s Biopharmaceutical companies are working on treatments of these and many other diseases.  For more information visit http://timeisprecious.life.

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