Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Apr 13;4(3-4):179-188.
doi: 10.3233/TRD-190045.

The undiagnosed diseases program: Approach to diagnosis

Ellen F Macnamara  1 , Precilla D'Souza  1 ; Undiagnosed Diseases Network; Cynthia J Tifft  1   2
Affiliations

The undiagnosed diseases program: Approach to diagnosis

Ellen F Macnamara et al. Transl Sci Rare Dis. .

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.

PubMed Disclaimer

References

    1. Genes G., Rare Facts. 2015 [cited 2019; Available from: https://globalgenes.org/rare-facts/.
    1. Gahl W.A., Tifft C.J., The NIH Undiagnosed Diseases Program: Lessons learned, JAMA 305(18) (2011), 1904–1905. - PubMed
    1. Splinter K., et al., Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease, N Engl J Med 379(22) (2018), 2131–2139. - PMC - PubMed
    1. Gahl W.A., Wise A.L., Ashley E.A., The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension, JAMA 314(17) (2015), 1797–1798. - PubMed
    1. Gahl W.A., et al., The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine, Mol Genet Metab 117(4) (2016), 393–400. - PMC - PubMed