Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

ABSTRACT: Living with an undiagnosed medical condition places a tremendous burden on patients, their families, and their healthcare providers. The Undiagnosed Diseases Program (UDP) was established at the National Institutes of Health (NIH) in 2008 with the primary goals of providing a diagnosis for patients with mysterious conditions and advancing medical knowledge about rare and common diseases. The program reviews applications from referring clinicians for cases that are considered undiagnosed despite a thorough evaluation. Those that are accepted receive clinical evaluations involving deep phenotyping and genetic testing that includes exome and genomic sequencing. Selected candidate gene variants are evaluated by collaborators using functional assays. Since its inception, the UDP has received mo

SUBMITTER: Montano C 

PROVIDER: S-EPMC12169816 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature