Physician scientists at 22 consortia will collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible through awards by the National Institutes of Health --  totaling about $29 million in fiscal year 2014 funding -- to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH's National Center for Advancing Translational Sciences (NCATS). 

There are several thousand rare diseases, of which only a few hundred have any treatments available. Combined, rare diseases affect an estimated 25 million Americans. Some obstacles to developing rare disease treatments include difficulties in diagnosis, widely dispersed patients and scientific experts, a perception of high risk, and a lack of data from natural history studies, which follow a group of people with a specific medical condition over time. 

"NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases," said NCATS Director Christopher P. Austin, M.D. "The RDCRN consortia provide a robust data source that enables scientists to better understand and share these commonalities, ultimately allowing us to accelerate the development of new approaches for diagnosing and treating rare diseases." 

Many patients with rare diseases often struggle to obtain an accurate diagnosis and find the right treatments. In numerous cases, RDCRN consortia have become centers of excellence for diagnosing and monitoring diseases that few clinicians see on a regular basis.

Via Pharma Guy, Celine Sportisse, eMedToday