The Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions in whom a diagnosis has not been made despite extensive efforts by the referring physician. Achieving an accurate diagnosis can be instrumental in guiding management, treatment, and counseling. Our program is powered by UAB Medicine, Children’s of Alabama and HudsonAlpha Institute for Biotechnology, a collaboration that provides input from a team of expert clinicians and utilizes cutting-edge genetic and genomic technologies, in a concentrated effort to uncover a diagnosis and thus determine and recommend effective treatment.
The UDP strives to meet the needs of patients of all ages. The program is designed to explore conditions that are amenable to diagnostic work-up and intervention and is not appropriate for the evaluation of patients with chronic conditions such as fatigue, weight loss, fibromyalgia, and diffuse pain. Patients who could benefit from our program include those with rare diseases, those with conditions not previously known to exist, and those who have an atypical presentation of a common disease or disorder. Despite evaluation by the UDP team, it is possible that a diagnosis will not be made.
The Undiagnosed Diseases Program utilizes a multi-disciplinary team led by Bruce Korf, MD, PhD, Maria Descartes, MD, and Martin Rodriguez, MD.
Dr. Bruce Korf is a medical geneticist and child neurologist in the Department of Genetics. He received his M.D. degree from Cornell University Medical College and his Ph.D. degree in genetics and cell biology from Rockefeller University. He then completed training in pediatrics, pediatric neurology, and genetics at Children’s Hospital, Boston. He is chair of the Department of Genetics and director of the Heflin Center for Genomic Sciences at the University of Alabama at Birmingham. Dr. Korf also has a major interest in the integration of genetics and genomics into health care and is currently President of the ACMG Foundation for Genetic and Genomic Medicine.
Dr. Maria Descartes is a professor in the Departments of Genetics and Pediatrics. She received her undergraduate education at the University of Puerto Rico and her M.D. degree from the University of Puerto Rico, School of Medicine. Dr. Descartes completed a residency in pediatrics in Puerto Rico and a fellowship in genetics at the Institute of Genetics at Baylor College of Medicine (Houston). Her clinical practice is as a general geneticist with expertise in the areas of dysmporphology, lysosomal storage disorders and inherited disorders of metabolism. She is the director of the UAB Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children.
Dr. Martin Rodriguez is an internist and infectious diseases specialist in the Department of Medicine. He received his M.D. degree from Universidad Peruana Cayetano Heredia (Lima, Peru). He completed his internship, residency, and chief medical resident year at UAB and completed a clinical and research fellowship at Massachusetts General Hospital and Harvard Medical School in Boston. He directs the inpatient General Medicine Service at UAB, and is an attending physician on the Infectious Diseases consultation service. He has been recognized among the Best Doctors in America and has received many recognitions for his contributions to medical education and patient care at UAB.
Dr. Anna C. E. Hurst is a medical geneticist and pediatrician in the Department of Genetics. She received a master’s degree in genetic counseling at the University of South Carolina (Columbia) and her M.D. degree from the Medical University of South Carolina (Charleston). She completed pediatrics training at Wake Forest Baptist Medical Center and medical genetics training at the University of Alabama at Birmingham. She has clinical interests in dysmorphology, multiple congenital anomaly syndromes, intellectual disabilities, and multidisciplinary care coordination for children with special healthcare needs.
The team also includes certified genetic counselor Ashley Cannon (PhD, CGC), and Tammi Skelton, NP-C (pediatric clinical coordinator). In addition, physicians from various medical and pediatric subspecialties, as well as radiologists and pathologists, serve as consultants and provide their expertise.
In order to be evaluated by the team, prospective patients must meet essential criteria, which include:
- Patients must be referred by a physician (i.e., self-referrals not accepted)
- Patients must have had an extensive evaluation that did not result in a diagnosis
- Condition prompting referral is causing significant impairment to quality of life
- Patients must be clinically stable (i.e., not in need of emergent evaluation and care)
- The medical condition must have had at least 6 months duration
- The UDP medical staff, upon evaluation of the patient’s status, judge that the resources and expertise of the UDP offer opportunities to make a contribution towards a diagnosis beyond what has already been done
Please note, only a limited number of patients who are referred will be evaluated. The principal deciding factor regarding admission to the program is that the UDP has the expertise and resources to have a possibility of achieving a diagnosis. In many cases, the staff may determine that it will be unable to add to an already extensive workup and may not admit the patient to the program. In such cases, we will make an effort to offer alternative programs at UAB that may be able to help the patient.
The UAB UDP is a clinical program, not a research program. As such, it is unable to provide free care and therefore clinical services associated with the program are billed in the usual way. The UDP staff will work with patients and insurance companies to obtain preauthorization for any consultations, tests, or procedures done as part of the patient evaluation and will work with patients who do not have health insurance on a case-by-case basis. There is no charge to submit medical records for consideration for evaluation in the program, however.
Clinic Location and Hours
Pediatric Genetics clinics are located on the sixth floor of the Dearth Tower in the McWane Building.
Adult genetics clinics are located on the first floor of the Kirklin Clinic