A National Institutes of Health program to diagnose rare diseases is, for now, no longer accepting new applications. After receiving more than 5400 queries and 1900 applications since its inception in 2008, the Undiagnosed Diseases Program, which aims to gain basic knowledge of rare human diseases and to aid those suffering from them, decided to take a break from new applications to eliminate the backlog of cases it has already taken on.
Reviewers selected 450 applicants, whose medical records provided promising leads, and NIH investigators have looked into 350 of those cases so far. Selected patients come to the NIH’s Bethesda, Maryland, clinic for a complete medical workup by NIH staff, including genome sequencing. Earlier this year, the program published its first findings, identifying in nine patients an inherited deficiency in an adenosine enzyme as the culprit in calcium buildup in their lower body arteries. Treatment with adenosine, which prevents calcification, reduced the symptoms.
The program hopes to start accepting new cases in a few months, after putting some of the ongoing investigations to bed, program head William Gahl told ScienceInsider.