The undiagnosed diseases program: Approach to diagnosis.
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ABSTRACT:
SUBMITTER: Macnamara EF
PROVIDER: S-EPMC7250153 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Publications
The undiagnosed diseases program: Approach to diagnosis.
Macnamara Ellen F EF D'Souza Precilla P Tifft Cynthia J CJ
Translational science of rare diseases 20200413 3-4
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 th ...[more]
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