The undiagnosed diseases program: Approach to diagnosis

Ellen F Macnamara; Precilla D'Souza; Undiagnosed Diseases Network; Cynthia J Tifft

doi:10.3233/TRD-190045

The undiagnosed diseases program: Approach to diagnosis

Transl Sci Rare Dis. 2020 Apr 13;4(3-4):179-188. doi: 10.3233/TRD-190045.

Authors

Ellen F Macnamara¹, Precilla D'Souza¹; Undiagnosed Diseases Network; Cynthia J Tifft^{1

2}

Affiliations

¹ National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.
² Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Abstract

Undiagnosed and rare conditions are collectively common and affect millions of people worldwide. The NIH Undiagnosed Diseases Program (UDP) strives to achieve both a comprehensive diagnosis and a better understanding of the mechanisms of disease for many of these individuals. Through the careful review of records, a well-orchestrated inpatient evaluation, genomic sequencing and testing, and with the use of emerging strategies such as matchmaking programs, the UDP succeeds nearly 30 percent of the time for these highly selective cases. Although the UDP process is built on a unique set of resources, case examples demonstrate steps genetic professionals can take, in both clinical and research settings, to arrive at a diagnosis for their most challenging cases.

Keywords: RNA sequencing; Undiagnosed; genome sequencing; model organisms; rare disease.