The University of Alabama at Birmingham (UAB) Undiagnosed Disease Program (UDP), an affiliate site of the Undiagnosed Diseases Network (UDN) since 2022, was recently designated as a Diagnostic Center of Excellence. The UDN is supported by the National Institutes of Health, providing resources to improve strategies for understanding and diagnosing rare diseases.
The UAB UDP provides diagnostic evaluations for children and adults with chronic, undiagnosed conditions. This designation enables the UAB UDP to not only participate in UDN activities but also gives access to the Data Management Coordinating Center’s (DMCC) resources.
Less than two months after having received this recognition in September 2023, UAB was awarded funding from the UDN Clinical Research Support Core of the DMCC to support the UDP’s proposal entitled, “Improving Efficiency, Access, and Diversity of UAB UDP Patient Evaluations,” which will enable the program to overcome two main challenges: 1) efficiency and timeliness of evaluations and 2) diversity of patients seen.
"Designation as a Diagnostic Center of Excellence and receipt of this funding, both acknowledges the success of the UAB UDP over the past 10 years and enables us to bring the program to a new level to better serve our diverse community,” said Bruce Korf, MD, Ph.D., Associate Dean for Genomic Medicine and Chief Genomics Officer, UAB Medicine. "We are now positioned to expand the services of the UAB UDP, employing state-of-the-art diagnostic approaches but also working one-on-one with patients and families to provide personalized and compassionate care.”
The UAB UDP consists of a core group of physicians (Drs. Martin Rodriguez, Ali Al-Beshri, Anna Hurst in addition to Dr. Korf), two nurse practitioners (Tammi Skelton, MSN, CRNP, NP-C and Kaitlin Callaway, MSN, CRNP, NP-C) who serve as program coordinators, and pediatric and adult consultants at UAB and Children’s of Alabama (affiliated with UAB). This collaborative clinical and research team also includes scientists at HudsonAlpha Institute for Biotechnology who provide genomic analysis and strive to support patients of all ages who are undiagnosed or who have a likely rare disease diagnosis.
UAB is also recognized as a Rare Disease Center of Excellence by the National Organization of Rare Disease (NORD). For more information about UAB’s Undiagnosed Diseases Program and research, visit https://www.uab.edu/medicine/genetics/patient-care/clinical-services/undiagnosed-diseases