UAB Medicine and Children’s of Alabama receive the National Rare Disease Award.
The National Organization for Rare Disorders has named UAB Medicine and Children’s of Alabama NORD Rare Disease Centers of Excellence. UAB Medicine and Children’s are joining 31 medical centers as part of an innovative network dedicated to improving access, improving care and research for rare disease patients in the United States.
“We are honored to be recognized as a Center of Excellence in Rare Diseases in recognition of UAB and Children’s continued commitment to providing innovative treatments and research to much of the Southeast,” said Nathaniel Robin, MD, professor and clinical Director in the UAB Department of Genetics and Professor of Pediatrics at the UAB Marnix E. Heersink School of Medicine and the Children’s Clinic. “The collaborative network will allow us to serve our community and others across the country while advancing the rare disease field as a whole.”
According to the National Institutes of Health, any disease that affects fewer than 200,000 people in the United States is considered rare. There are 7,000 rare diseases and it is estimated that 25 to 30 million Americans are living with a rare disease. People with rare diseases often face the challenge of finding a diagnosis and high quality clinical care. In addition, more than 90 percent of rare diseases are lacking a treatment approved by the Food and Drug Administration.
“At the moment, far too many rare diseases do not have an established standard of care. The Centers of Excellence program will help set this standard – for patients, clinicians and medical centers alike, ”said Ed Neilan, NORD’s Chief Scientific and Medical Officer. “We are proud to announce UAB Medicine and Children’s of Alabama as the NORD Rare Disease Centers of Excellence and look forward to your many continued contributions as we work together to improve health equity, care and research to benefit all people to support rare diseases. ”
NORD selected centers as part of a competitive application process, which required evidence of an occupation with experts from several specialist areas who meet the needs of patients with rare diseases. The centers were also evaluated for significant contributions to patient education, physician training and research. The collaborative partnership between the centers aims to expand the shared knowledge and resources that improve the rare diseases field, including new standards of care and innovative treatments, therapies and research.
“The award stems from UAB and Children’s continued commitment to rare diseases, including exceptional cytogenetic, molecular and biochemical clinical laboratories; multidisciplinary clinics such as cleft and craniofacial, muscular dystrophy, Marfan syndrome, Turner syndrome and mitochondrial diseases, ”said Robin. “From a robust area of clinical genetics with doctors, researchers, consultants and an exemplary residency program to a number of multidisciplinary teams promoting collaborative care, including a partnership with HudsonAlpha, both organizations encompass the qualities that NORD expects from their centers Has.”
Robin also attributes the appointment to the leadership of Bruce Korf, MD, Ph.D., Chief Genomics Officer for UAB Medicine, and his programs such as All of Us, the Alabama Genome Health Initiative, and the Neurofibromatosis Clinic; Matt Might, Ph.D., director of the Hugh Kaul Precision Medicine Institute, and Brad Yoder, Ph.D., and his work with the Center for Precision Animal Modeling; and Anna Hurst, MD, associate professor of genetics and her research on the use of genome analysis, including the Children’s of Alabama Genome Study.
For more information on the NORD Rare Disease Centers of Excellence program and the full list of centers, please visit the program website.