Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

ABSTRACT:

Background

Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.

Methods

We evaluated patients who were referred to the UDN over a period of 20 months. The patients were required to have an undiagnosed condition despite thorough evaluation by a health care provider. We dete

SUBMITTER: Splinter K 

PROVIDER: S-EPMC6481166 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature