Clinic Overview
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 is part of the NIH Undiagnosed Diseases Network (UDN), and, as such, has access to advanced diagnostic capabilities and expertise of the entire Network.
Patient Population
The UDP strives to meet the needs of patients of all ages. The program is designed to explore conditions amenable to advanced diagnostic evaluation and is not appropriate for evaluation of some chronic conditions such as fatigue, weight loss, fibromyalgia, and diffuse pain.
It is also not intended for initial evaluations, but rather for patients who have already had extensive evaluations that did not lead to a diagnosis.
Determination for Evaluation
The principal deciding factor regarding the decision to evaluate a patient is that the UDP has the expertise and resources necessary to possibly achieve a diagnosis.
In some cases, the staff may determine that it will be unable to add to an already extensive work-up, in which case we are often able to arrange evaluations in alternative UAB programs. Despite evaluation in the UDP, it is possible that a diagnosis will not be made.
Prospective patients must meet the following criteria:
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Have had an extensive evaluation not resulting in a diagnosis
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The condition prompting the referral must be causing significant impairment to quality of life (organ dysfunction, constitutional symptoms, or loss of function) and must be of at least six months duration.
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Are clinically stable and not acutely ill (requiring urgent evaluation and/or management in an acute setting)
Referral Process
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a. Patients can apply directly to the UDN through the UDN Gateway. (LINK/BUTTON: https://undiagnosed.hms.harvard.edu/)
b. Physicians can also send a referral directly to the UAB UDP by completing a form. (LINK/BUTTON: https://www.uab.edu/medicine/genetics/clinical/clinical-expertise/undiagnosed-diseases/referral-information)
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Referrals will be reviewed by UAB UDP staff. Medical records will be gathered and reviewed and some patients may have an initial telemedicine or in-person visit to verify their eligibility to be evaluated in the program. Those deemed eligible for a full evaluation will be asked to complete an application to the UDN Gateway and provide informed consent for participation.
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Once accepted into the program, clinical evaluations with UDP physicians will be arranged and appropriate medical tests ordered. All clinical visits and tests will be billed in the usual manner. There is no charge, however, for submission of medical records for consideration for evaluation in the program.
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Following evaluation, the patient and referring physician will be sent a summary of the evaluation. If a diagnosis is established, treatment and management recommendations will be made, to be coordinated by our facility and/or per the patient’s local providers, according to each patient’s needs and the available resources.
IMPORTANT: The UDP does not assume ongoing care for patients, either during the evaluation or following determination of a diagnosis.
Financial Issues
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
Monday-Friday 7:30-4:30
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
Team Members
The Undiagnosed Diseases Program utilizes a multi-disciplinary team led by Bruce Korf, MD, Ph.D., Nathaniel Robin 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 Chief Genomics Officer for UAB Medicine 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. 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.
Dr. Nathaniel H. Robin is a clinical geneticist, with a focus on craniofacial disorders, and the integration of genetics across the health system. He is the Medical Director for UAB Genetics, and the clinical division chief in the Department of Genetics. Dr. Robin completed his MD degree and a pediatric residency at Albert Einstein College of Medicine/Montefiore Medical Center in Bronx, New York. He was a clinical fellow in the Division of Human Genetics and Molecular Biology and the Division of Biochemical Genetics at The Children’s Hospital of Philadelphia, Pennsylvania, where he also served a research fellowship in the laboratory of Max Muenke. Dr. Robin is the Director of the UAB National Organization of Rare Diseases Center of Excellence, and is a Board Director of the American Board of Medical Genetics and Genomics.
The team also includes certified genetic counselor Kristin R Smith (MSCGC) and Tammi Skelton, NP-C and Kaitlin Callaway, NP-C. In addition, physicians from various medical and pediatric subspecialties, as well as radiologists and pathologists, serve as consultants and provide their expertise.