UAB Medicine and Children’s of Alabama receive national rare diseases designation.
(Photography: Steve Wood)The National Organization for Rare Disorders has designated UAB Medicine and Children’s of Alabama as NORD Rare Disease Centers of Excellence. UAB Medicine and Children’s join 31 medical centers as part of the innovative network seeking to expand access, advance care and enhance research for rare diseases patients in the United States.
“We are honored to receive a Rare Disease Centers of Excellence designation as recognition of UAB and Children’s continued commitment to provide cutting-edge treatment and research for much of the Southeast,” said Nathaniel Robin, M.D., professor and clinical director in the UAB Department of Genetics and professor of pediatrics in the UAB Marnix E. Heersink School of Medicine and at Children’s. “The collaborative network will allow us to serve our community and others across the nation while advancing the rare diseases 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 25 million to 30 million Americans are estimated to live with a rare disease. People living with rare diseases frequently face challenges finding diagnosis and quality clinical care. Additionally, more than 90 percent of rare diseases lack an approved treatment from the Food and Drug Administration.
“Right now, far too many rare diseases are without an established standard of care. The Centers of Excellence program will help set that standard — for patients, clinicians and medical centers alike,” said Ed Neilan, chief scientific and medical officer of NORD. “We are proud to announce UAB Medicine and Children’s of Alabama as NORD Rare Disease Centers of Excellence and look forward to their many further contributions as we collectively seek to improve health equity, care and research to support all individuals with rare diseases.”
NORD selected centers through a competitive application process requiring evidence of staffing with experts across multiple specialties that meet the needs of rare diseases patients. Centers were also evaluated for significant contributions to patient education, physician training and research. The collaborative partnership between the centers aims to increase shared knowledge and resources that enhance the rare diseases field, including new standards of care and innovative treatments, therapies and research.
“The designation comes from UAB and Children’s continued dedication to rare diseases services, including exceptional cytogenetic, molecular and biochemical clinical labs; multidisciplinary clinics such as cleft and craniofacial, muscular dystrophy, Marfan syndrome, Turner syndrome, and mitochondrial diseases,” Robin said. “From a robust clinical genetics area with physicians, researchers, counselors and an exemplary residency program to an array of multidisciplinary teams that foster collaborative care, including a partnership with HudsonAlpha, both organizations encompass the qualities NORD sought of their centers.”
Robin also attributes the designation to leadership from Bruce Korf, M.D., 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, M.D., associate professor of genetics and her research in the utilization of genomic 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, visit the program website.