BIRMINGHAM, Ala. - Alan Percy, M.D., professor of pediatric neurology and medical director of the Civitan International Research Center at the University of Alabama at Birmingham (UAB) was honored by the International Rett Syndrome Foundation (IRSF) at its 25th Annual Family Education and Information Conference over the Memorial Day weekend.
Percy received the foundation's highest award for a clinician, The Art of Caring Award, presented by Clifford and Judy Fry, one of his first patient families. Percy is a highly recognized authority on Rett syndrome and other rare neurodevelopmental diseases. He has been involved with Rett syndrome since the syndrome was first identified in this country.
"Identifying the first young girl with Rett syndrome in the Houston community redirected my career path from a basic science laboratory to the recruitment of several key figures into Rett syndrome research," said Percy. "Since those days, the development of a clinical and translational research program has placed us on the doorstep of a direct, effective treatment for this unique neurodevelopmental disorder that affects girls and women predominantly. It has been a privilege to work with a group of dedicated physician scientists to achieve this goal and to serve the individuals and their families directly affected by it."
The IRSF also honored Huda Zoghbi, Ph.D., professor of molecular and human genetics, pediatrics, neurology and neuroscience at Baylor College of Medicine with the foundation's most prestigious research award, The Circle of Angels Research Award. Since the discovery of the gene in her lab 10 years ago, Zoghbi has continued to unravel the puzzle of Rett syndrome, and her studies have led to a better understanding of how mutations in the gene MECP2 result in the disorder.
Over 250 families and dozens of clinicians and researchers from across the United States participated in the annual event.
About Civitan International Research Center
The Civitan International Research Center is an interdisciplinary center dedicated to improving lives through brain research and the prevention and treatment of developmental disabilities such as Rett syndrome, mental retardation, autism spectrum disorders, brain tumors, neonatal seizures, Alexander's Disease and Kernicterus.
About Rett Syndrome
Rett syndrome (RTT), a brain disorder affecting development in childhood, has been identified almost exclusively in females. RTT 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 RTT includes physical and occupational therapy, speech therapy, and medication for seizures. No cure for Rett syndrome is known. In 2008, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. Rett syndrome is recognized as the "Rosetta Stone" of other neurological disorders, with genetic links to other disorders like autism and schizophrenia.