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Showing posts from June, 2017

Redefining disease: an update from the NIH Undiagnosed Disease Program

There are approximately 30 million Americans living with a rare disease, and only about 5% of those diseases have a known treatment. To better understand rare diseases and conditions and to support the diagnosis of patients, the NIH Undiagnosed Diseases Program (UDP) was created in 2008. The UDP has worked with over 700 patients, of which, about 40% are children. Of these patients, between 25-50% of cases now have a diagnosis, although time to diagnosis has varied from one week to four years[1]. These numbers are lower for patients outside of the UDP: time to diagnosis is 4.8 years on average but can take up to 20 years[2]. Historically, the UDP has selectively accepted only about 100 new patients a year, focusing on the hardest-to-diagnose patients, with the goal of diagnosing and treating these patients to improve their livelihood.
A recent article[3] by Boerkoel et al., co-written by several members of the Monarch Initiative, describes recent advances made at the NIH UDP. The artic…