Rare Disease Clinical Research Center
Establishment of the Rare Disease Clinical Research Center and Rett Syndrome Natural History Study:
In 2003, the NIH-funded Rare Disease Clinical Research Center (RDCRC) was established at the Civitan International Research Center at UAB. As part of the RDCRC, UAB joins 6 other sites across the US as a member of the Angelman, Rett and Prader-Willi consortium, under the direction of pediatric neurologist and internationally recognized Rett syndrome expert, Alan K. Percy, M.D. As a result of the establishment of the RDCRC Consortium and the long and intense interest of Dr. Percy and his team in Rett syndrome, the 5-year Rett Syndrome Natural History Study began enrollment in 2004.
While RDCRC studies of Angelman and Prader-Willi have not begun at UAB, a multidisciplinary Behavioral Genetics Clinic at UAB Sparks Clinics was established by Dr. Percy and geneticist, Nat Robin, M.D, for individuals with genetic disorders in which behavior may be a problem, such as Angelman, Prader-Willi and Williams syndromes (see below for more information).
Background of Rett Syndrome (RS):
Rett syndrome, a brain disorder affecting development in childhood, has been identified almost exclusively in females but can occur in males under certain conditions. RS results in severe movement and communication problems following apparently normal development for the first six months of life. The characteristic features include loss of speech and purposeful hand use, occurrence of repetitive hand movements, abnormal walking, abnormal breathing, and slowing in the rate of head growth. Current treatment for girls with RS includes physical and occupational therapy, speech therapy, and medications for issues such as seizures or GI complications. No cure for RS is known. For more information regarding Rett syndrome, please go to the International Rett Syndrome Association (IRSA) website at www.rettsyndrome.org
UAB Rett Syndrome Clinic Team:
Pediatric Neurologist - Alan Percy, MD
Registered Nurse - Jane Lane, RN, BSN
Registered Dietician - Suzanne Geerts, RD, MS
For information regarding the UAB Rett Center and Rett Syndrome Clinic contact
Jane Lane, RN, BSN
1-800-822-2472, ext 7
205-996-6406
Rett Syndrome Handbook
Rett Syndrome Natural History Study
Rett Syndrome Refferences
World Congress on Rett Syndrome - October 10-13, 2008 Paris, France. For more information download the brochure (below) or visit the website at www.worldrettsyndrome2008.org
