How can I get a diagnosis?

he UDNF works closely with the UDN, a research study backed by the National Institutes of Health (NIH) that brings together clinical and research experts from across the United States to evaluate undiagnosed patients. The UDN consists of clinical sites, model organisms screening centers (MOSCs), a coordinating center, a sequencing core, and central biorepository. Patients can submit a case directly online using the UDN’s case submission gateway.

Other clinical diagnostic studies have emerged across the US and abroad over the past 15 years. National efforts include the Centers for Mendelian Genomics, the Clinical Sequencing Evidence-Generating Research consortium, Cedar Sinai’s Center for the Undiagnosed Patient, the GREGoR Consortium, University of Alabama’s Undiagnosed Diseases Program, Smith Family Clinic for Genomic Medicine,  University of Wisconsin’s Undiagnosed Diseases Program, Rare Disease Clinical Research Network, and the NORD Rare Disease Centers for Excellence. Some of these programs allow patients to apply directly and others require physician referral.

International diagnostic programs include Solve-RD in the European Union, Care for Rare in Canada, European Joint Programme on Rare Diseases, and sites with the Undiagnosed Diseases Network International.

Not sure where to start? Contact us for help navigating undiagnosed diseases programs.