The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

ABSTRACT:

Introduction

The inability of some seriously and chronically ill individuals to receive a definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed Diseases Program (UDP) was established to provide answers to patients with mysterious conditions that long eluded diagnosis and to advance medical knowledge. Patients admitted to the NIH UDP undergo a five-day hospitalization, facilitating highly collaborative clinical evaluations and a detailed, standardized documentation of the individual's phenotype. Bedside and bench investigations are tightly coupled. Genetic studies include commercially available testing, single nucleotide polymorphism microarray analysis, and family exomic sequencing studies. Selected gene variants are evaluated by collaborators using in

SUBMITTER: Gahl WA 

PROVIDER: S-EPMC5560125 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature