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Undiagnosed Diseases Program
Clinic OverviewThe 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 Patient Population
The UDP strives to meet the needs of patients of all ages, including those with rare diseases, those with conditions not previously known to exist, and those with atypical presentations of common diseases. The program is designed to explore conditions amenable to diagnostic work-up and intervention and is not appropriate for evaluation of chronic conditions such as fatigue, weight loss, fibromyalgia, and diffuse pain.
Team MembersThe Undiagnosed Diseases Program utilizes a multi-disciplinary team led by Bruce Korf, MD, Ph.D., Ali Al-Beshri, 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. Ali Al-Beshri is an internist and medical geneticist in the Department of Medicine and a core physician in the Undiagnosed Diseases Program, who specializes in the diagnosis and management of genetic disorders and more specifically, inborn errors of metabolism. He is trained in internal medicine, medical genetics, and biochemical genetics and has three U.S. Board certifications. He is currently the Director of an adult metabolic clinic at University of Alabama at Birmingham and manages adults and children with inborn errors of metabolism. Dr. Al-Beshri has clinical experience in evaluating and diagnosing rare conditions as well as in interpreting molecular and metabolic laboratory data for clinical purposes.
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 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.
Referral ProcessIn 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 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.
Submit a Referral
Financial IssuesThe 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 HoursMonday-Friday 7:30-4:30Phone 205-996-6583Fax 205-934-4111
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
Additional Information (PDF)
How The Discovery Of 44 Rare Genetic Variants May Lead To New Migraine Treatments
Every year, more than 1 billion people worldwide have at least one migraine headache, making it one of the most common neurological conditions in the world.
There is currently no cure for migraine — medications and avoiding triggers are used to treat symptoms when they occur as well as try to decrease migraine frequency.
Now, a large international study conducted by researchers from deCODE Genetics in Iceland has discovered 44 rare genetic variants — including 12 that are novel — associated with migraine with aura as well as without it.
In the study recently published in the journal Nature Genetics, researchers say they believe these findings will provide avenues for the development of new migraine therapies.
According to Gyda Bjornsdottir, PhD, a research scientist at deCODE Genetics and lead author of this study, while most studies of the genetics of migraine have focused on migraine as a single disease, several genetic associations have been found in migraine that are informative.
"The last article on migraine genetics associated over 120 common genetic variants with migraine," Bjornsdottir told Medical News Today. "These are in different genes with different roles encoding different proteins."
"We now had the resources and the numbers of whole genome sequenced individuals to study rare variants in association with migraine and to focus on the migraine subtypes with and without aura," she added. "There is evidence that these are perhaps different pathologies to some extent — different biologies behind these subtypes of migraine."
Dr. Kari Stefansson, the chief executive officer and co-founder of deCODE Genetics, told Medical News Today the research findings provide new evidence that migraine with and without aura are two separate conditions.
"Patients with migraine present in two ways — they present as patients who have an aura and then people who just descend with the headache without any preceding events," Stefansson said. "These are clinically very distinct things."
"What Dr. Bjornsdottir has done with her work is to demonstrate to us that this difference is not just a difference in perception by patients, it is biologically based," he added. "She has shown unequivocally that even though there is an overlap between the pathogenesis of these two forms of migraine, the two of them are clearly very distinct."
For this study, Bjornsdottir and her team analyzed genetic data from more than 1.3 million study participants of genome-wide association studies, of which 80,000 had migraine.
Focusing on genetic sequence variants associated with both migraine with and without aura, researchers discovered associations with 44 rare variants, 12 of which are novel.
One such variant is the PRRT2 gene, which was associated with a large risk of migraine with aura as well as epilepsy.
"Both are neurological diseases to some extent," Bjornsdottir said. "Both diseases come in attacks of paroxysmal diseases that come and go. Both can have the elements of the aura mentioned. We calculated the genetic correlation between these two diseases in our data. And we do find that there is some genetic correlation, but they are not highly correlated. Indeed, this variant seems to be quite unique in terms of its affecting both epilepsy and migraine with aura in this biology that we detected."
Another rare variant researchers found is the KCNK5 gene, which protects against severe migraine and brain aneurysm.
"Migraine has neurological and vascular etiologies to it," Bjornsdottir explained. "Here we have a variant that is in a potassium channel gene that is expressed both in neurons and in arteries. We may have here evidence of biology that is common to migraine, both in terms of the neurological and vascular aspects of it, but we also might have a variant that may lead to severe headaches as a prequel to brain aneurysms."
Stefansson said the more we understand about migraine, the more likely we are to find new ways to treat it.
"And we believe that with this study, Dr. Bjornsdottir has made a very meaningful contribution to our understanding of migraine," he said. "So I think that this inevitably is going to increase the probability of the discovery of a new treatment. And besides that, the genes that were discovered encode proteins that are fairly attractive as (therapeutic) targets."
As for the next steps in this research, Stefansson said they will be taking a look at the differences between migraine in men and women.
"Dr. Bjornsdottir is going to do a sex-based analysis to look at what are the genes that cause migraine in men and what are the genes that cause migraine in women," he explained. "And that is important because we need to understand the sex differences."
"There are considerable sex differences in the prevalence of migraine all over the world," Bjornsdottir added. "We are pretty sure that there are some biological explanations for this, but what they are, we don't know yet. So that's the logical next step to study."
Medical News Today also spoke with Dr. Medhat Mikhael, a pain management specialist and medical director of the non-operative program at the Spine Health Center at MemorialCare Orange Coast Medical Center in California who was not involved in the study.
"It's really an amazing study because it seems they can detect some of the novel genetic variants that can detect patients who are at high risk of development of migraine, and link those variants to other possible serious illnesses," he said. "Like in (the) case of migraine with aura, they have linked it some with brain diseases like seizure, and others that misdiagnosed as migraine and ended up with a brain aneurysm. This is… an amazing study because it can make a huge change in the field of prevention and treatment of migraine."
Mikhael said that identifying these novel genetic variants can help doctors with earlier migraine diagnosis and prevention, as well as helping to prevent misdiagnosis of migraine with other serious neurological conditions.
As this study was conducted in a genetic lab in Iceland, Mikhael said he would like to see this research advanced to the point where it can be used to test people with migraine through easier and simpler testing.
"That the testing process can advance to where we can see this available in some accessible labs for patients covered by insurance," he said. "So we can do not only early detection, early diagnosis, early prevention, and avoid misdiagnosis and avoid complications like a bleeding aneurysm or stroke for a patient that was misdiagnosed as a migraine. Or has a migraine with aura, but someone missed some of the underlying seizure and hemiplegia that can happen with this patient because it was detected early, prevented early, and treated early."
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