Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

ABSTRACT:

Purpose

The NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advancing the UDN mission; this study assesses their contributions relative to standard clinical practices.

Methods

We analyzed retrospective data from four UDN clinical sites, from July 2015 to September 2019, for diagnoses, new disease gene discoveries and the underlying investigative methods.

Results

Of 791 evaluated individuals, 231 received 240 diagnoses and 17 new disease-gene associations were recognized. Straightforward diagnoses on UDN exome and genome sequencing occurred in 35% (84/240). We considered these tractable i

SUBMITTER: Schoch K 

PROVIDER: S-EPMC7867619 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature