The UAB Undiagnosed Diseases Program, an affiliate site of the Undiagnosed Diseases Network (UDN) since 2022, has received another UDN award from the National Institutes of Health. A previous X01 Resource Access Award in 2023 designated the program as a Diagnostic Center of Excellence, and this latest award transitions it to a U01 Cooperative Agreement that enables additional funding.
The UDN program combines basic and clinical research services to understand health conditions for individuals and their families who have sought a clinical diagnosis without success. The program is supported by 17 institutes and centers at the National Institutes of Health (NIH) and is led by the National Institute of Neurological Disorders and Stroke. The NIH – as part of its efforts to expand the UDN’s geographic coverage and better reach Americans facing health disparities – provides access and funding awards to medical centers and clinics that have related programs.
As an affiliate of the UDN, the UAB Undiagnosed Diseases Program seeks to meet the needs of patients with severe chronic medical conditions that haven’t been diagnosed despite extensive efforts by the referring physician. The program is a collaboration between UAB Medicine, Children’s of Alabama, and HudsonAlpha Institute for Biotechnology. It gathers input from a team of expert clinicians and utilizes advanced genetic and genomic technologies to uncover a diagnosis and then determine and recommend a treatment likely to be effective.
Bruce Korf, M.D., Ph.D., associate dean for Genomic Medicine and distinguished professor of genetics at UAB Medicine, leads the UAB Undiagnosed Diseases Program. He says the U01 Cooperative Agreement award will help the program expand its mission.
“This continued affiliation will expand ongoing efforts to include the use of AI-powered tools and community partnerships,” Dr. Korf said. “We anticipate improvements in the timeliness and accuracy of diagnoses, which in turn should improve patient outcomes.”
Dr. Korf says the award offers important benefits for patients.
“This further enables the adoption of approaches that will be scalable, so that in the future, fewer people will have to experience such long periods of uncertainty about what is causing their illness,” Dr. Korf said. “We think there are lot of people who would benefit from our program but perhaps don’t know that this resource is available. Part of this grant is to be working with federally qualified health centers in the area, to increase awareness and reach patients who struggle with access to health care. That will help ensure that access to high-quality diagnostic services, regardless of a patient’s location or background.”