According to a story from Charcot Marie Tooth News, a small subdivision of the National Institutes of Health (NIH) is leaning into its role to assist with research into rare diseases and the development of innovative new treatments. This activity has spanned an incredible variety of rare conditions, up to 7,000. The entity is currently a part of the National Center for Advancing Translational Sciences (NCATS), and it was originally founded as the Office of Rare Disease Research (ORDR) in 1993. The headquarters is in Bethesda, Maryland.
Although the ORDR may be only a small subdivision in the complex structure of the NIH, the office is making a big impact in the field of rare diseases. Dr. Anne Pariser is the current director. For her, the job is all about helping researchers and patient advocacy organizations coordinate their efforts more effectively. The ultimate goal is saving lives and producing the best outcomes possible for rare disease patients as quickly, efficiently, and effectively as possible.
The ORDR and its director were closely involved in the organization of Rare Disease Day 2018, which was held on March 1st. On that day, around 600 people converged at the NIH’s clinical center, and about 1,400 people tuned in online to observe the day’s activities. A big point that Dr. Pariser wants to get across in her work is that, while a single disease on its own may be rare and affect only a small number of people, when taking into account the thousands of diseases that are considered rare, the impact is very significant. Recent statistical projections suggest that around 30 million Americans are affected by rare disease. This is a huge number that amounts to around ten percent of the nation’s populace.
Rare diseases also disproportionately affect children; nearly fifty percent of rare disease patients are kids, which highlights the urgent need for better and more comprehensive solutions. Although the ORDR only employs a total of eight people, its initiatives have helped kick off clinical trials that involve of 45,000 patients.