Gene

Biobank

Internal medicine

Pathology

Sociology

Intensive care medicine

Multidisciplinary approach

Disease

Genetic testing

Biorepository

Genetic diagnosis

Social science

Family medicine

Genetics

Bioinformatics

Medicine

Biology

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.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease