Program has accelerated discovery in diagnosing and treating patients with previously undiagnosed diseases
The NIH, as part of its efforts to expand the Undiagnosed Diseases Network’s (UDN) geographic coverage and better reach individuals in the U.S., awarded 12 clinical site U01 Cooperative Agreement awards under PAR-289 to serve as Diagnostic Centers of Excellence (DCoE) in the Phase III Network. The UDN is a research program that combines basic and clinical research services to understand health conditions for individuals and their families who have sought a clinical diagnosis without success. The efforts of the UDN participants and investigators have led to new diagnoses in many, and even the discovery of new disorders. In some, the diagnosis has led to effective treatments. The program is supported by 17 Institutes and Centers at the National Institute of Health and is led by the National Institute of Neurological Disorders and Stroke (NINDS).
Among the awardees, two new clinical sites at Yale University and the Icahn School of Medicine at Mount Sinai are joining the UDN as DCoEs, expanding the Phase III Network to over 20 clinical sites including the NIH intramural Undiagnosed Diseases Program and a Data Management Coordinating Center (DMCC). Three of the awardees (the Indiana University and Purdue University at Indianapolis, the University of Alabama at Birmingham, and the University of California at Irvine) have transitioned from an X01 Resource Access Award to a U01 cooperative agreement. The rest of the clinical sites (listed on the NINDS Focus on the UDN webpage) will continue their participation in the UDN. The Phase III UDN aims to continue to expand its outreach through community engagement activities along with plans to award new X01 clinical sites later this year.
Launched by the NIH Office of the Director’s Common Fund in 2013, UDN has facilitated diagnoses for more than 650 people in the past decade – providing answers to patients who have long searched for the cause of their symptoms. Team science and collaboration among UDN investigators has led to the discovery of hundreds of novel disease-associated genes and genomic variants, including the identification of new diseases and syndromes.
With help from patients, family members, patient advocacy groups, a Data Management and Coordinating Center (DMCC), several Clinical Sites, and other stakeholders, the NIH envisions the UDN evolving into a larger, diverse, and self-sustained network that fosters scientific discovery and provides expert diagnostic services for undiagnosed patients across the nation.