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Undiagnosed Diseases Program at UAB Expands with Genomics Clinic at Children's of Alabama
From UAB Media Relations
Media Contact: Bob Shepard

BIRMINGHAM – The University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.

Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.

“Expansion into Children’s will allow us to reach more families who have been living with a condition — sometimes for many years — that they could not understand or put a name to,” said Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and director of the UAB Undiagnosed Diseases Program. “With the advanced tools at our disposal, and an approach that stresses teamwork, critical thinking, consultation and contemplation, in many cases we can provide beneficial information for families who are searching for answers.”

Previously, the UDP saw both adults and children at the genetics clinic in the Kaul Genetics Building on the UAB campus. The Children’s of Alabama clinic location will provide easier access for families with affected children, helping to provide a seamless continuity of care.

“Children's of Alabama is pleased to be a part of this exciting collaborative that holds such promise for the future of pediatric health care,” said Mike Warren, president and CEO of Children’s of Alabama.

Since the program’s inception in 2013, the UDP team has seen more than 100 patients. A diagnosis was made in about two-thirds of those cases with a complete evaluation.

“We’ve had some very gratifying successes,” Korf said. “We have made a diagnosis in one family that completely changed the way several affected children are treated. In other cases, the UDP has produced a diagnosis for conditions that have stymied referring physicians and their patients for years.”

The clinics at UAB and Children’s are run in collaboration with a new genomics clinic at HudsonAlpha in Huntsville, which also conducts whole genome sequencing for the UAB program.

“The collaboration between UAB, Children’s and HudsonAlpha brings together the leading institutions in Alabama in the fields of genetics and genomics, along with unsurpassed patient care, cutting-edge technology, and a wealth of individuals with the experience and training to use that technology,” said Selwyn M. Vickers, M.D., senior vice president for Medicine and dean of the UAB School of Medicine. “In many cases, the UDP can truly make a difference for those who have struggled over the years with the frustration of not knowing what was wrong, and not knowing where to turn.”

For some patients, a diagnosis means a chance to receive appropriate medications or other therapy. For others, the knowledge might simply provide an indication of what to prepare for in the future. Even for those for whom there is no therapy, getting a diagnosis — getting answers — can be comforting.

The UDP team, led by Korf, Maria Descartes, M.D., professor of genetics, and Martin Rodriguez, M.D., associate professor of medicine, includes a designated certified genetic counselor and two nurse practitioners. Physicians from various subspecialties, in such areas as radiology, rheumatology and neurology, serve as consultants and provide their expertise as needed.

Patients must be referred to the UAB UDP by their primary care physician or a physician providing ongoing care for the condition under evaluation. Those enrolled into the program typically undergo sequencing of their genome as part of the evaluation process. Genetic testing will be available to family members when appropriate, along with genetic counseling.

“This is a concentrated effort to uncover a diagnosis and bring about effective treatment,” Korf said. “Insights gained during evaluation of a single patient may benefit those presently affected by such conditions and have the potential to benefit future generations of patients, while advancing medical and scientific knowledge as a whole.”

About the UAB School of Medicine
With more than 800 medical students and a faculty of more than 1,200, the School of Medicine at the University of Alabama at Birmingham is one of the premier academic medical centers in the United States. UAB is among the top 20 schools in research funding from the National Institutes of Health and is routinely listed among the best in various national rankings. UAB’s Medical-Scientist Training Program (M.D.-Ph.D.), Rural Medical Scholars Program and Early Medical School Acceptance Program are a few of the innovations on campus that foster collaboration across a multitude of disciplines. As the educational arm of UAB Medicine, students and residents train in a world-class setting; UAB Hospital’s 1,200 beds places it among the largest hospitals in the country. Doctoral students in UAB’s Graduate Biomedical Sciences Program participate in interdisciplinary thematic programs that integrate more than 25 departments and 20 research centers across UAB. At the UAB School of Medicine, we discover knowledge that changes your world.

About HudsonAlpha
The HudsonAlpha Institute for Biotechnology is a genomic science and applications nonprofit organization. It is a high-volume genomic data producer serving thousands of academic, clinical and commercial clients’ needs. The Institute is a global scientific collaborator valued for its genomic data analysis and interpretation to solve some of the most pressing questions in cancer, undiagnosed childhood genetic disorders, neuropsychiatric disorders, immune-mediated disease, agriculture and public health. Its unique 152-acre campus melds the boundaries between nonprofit scientists, educators and entrepreneurs so that collaboration sparks innovation and growth. To learn more about HudsonAlpha, visit

About Children’s of Alabama
Since 1911, Children’s of Alabama has provided specialized medical care for ill and injured children. Ranked among the best pediatric medical centers in the nation by U.S. News & World Report, Children’s provided care for youngsters from every county in Alabama, 42 other states and 10 foreign countries last year, representing more than 653,000 outpatient visits and nearly 14,000 inpatient admissions. With more than 2 million square feet, it is the third-largest pediatric medical facility in the U.S. Children’s offers inpatient and outpatient services across its Russell Campus on Birmingham’s historic Southside with additional specialty services provided at Children’s South, Children’s on 3rd, and in Huntsville and Montgomery. Primary care is provided at more than a dozen medical offices in communities across central Alabama. Children’s of Alabama is the only medical center in Alabama dedicated solely to the care and treatment of children. It is a private, not-for-profit medical center that serves as the primary site of the UAB pediatric medicine, surgery, psychiatry, research and residency programs. More information is available at or on social media at or