Undiagnosed Diseases Program
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. The UAB UDP 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. 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 Gustavo Heudebert, 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. Gustavo Heudebert is a professor of medicine, medical education, and public health. He received his undergraduate and M.D. degrees from the Universidad Peruanna Cyetano Heredia (Lima, Peru). Dr. Heudebert completed an internship and residency at Henry Ford Hospital (Detroit) and a clinical fellowship at the Medical College of Wisconsin, followed by a research fellowship at Clement J. Zablocki VA Medical Center (Milwaukee). He has over 20 years of experience as a clinician and, in his care of complex patients, has been recognized among the Best Doctors in America. He has also been honored for his outstanding contributions to graduate medical education. A major focus in his academic career has been research, with an emphasis on the application of quantitative sciences to clinical problems.
The team also includes a certified genetic counselor (Meagan Cochran, MS, CGC) and a clinical nurse coordinator (Carol Dahl, RN, MSN). 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
If these criteria are met, the patient and referring physician will be contacted so that all necessary information (including clinical history and documentation) can be obtained for review by the clinical nurse coordinator. If the UDP team then determines that the patient would likely benefit from enrollment in the program, the patient and referring physician will be contacted and advised regarding admission to the program. Further information and/or documentation may be required at that time.
Please note, only a limited number of patients who are referred will be enrolled. 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 enrollment in the program, however.
Clinic Location and Hours
Kaul Human Genetics Building
720 20th Street South
Birmingham, AL 35294