Rettsyndrome.org, a nonprofit organization dedicated to accelerating research of treatments and a cure for Rett syndrome, has named Children’s Hospital of Philadelphia (CHOP) a Clinical Research Center of Excellence. CHOP is now one of 14 institutions in the United States to receive this designation, which recognizes an institution’s commitment to research and partnering with families and community healthcare providers to deliver care that is comprehensive and appropriate for a family's individual needs.
The designation was formally announced on May 3, 2017, during a luncheon with patients with Rett syndrome and their families at CHOP. Steve Kaminsky, PhD, Chief Science Officer of RettSyndrome.org, presented a recognition plaque to Brenda Banwell, MD, Chief of the Division of Neurology, and Pediatric Neurologist Eric Marsh, MD, PhD, who has been leading research efforts at CHOP to better understand the causes of Rett Syndrome.
In particular, CHOP researchers are working to better understand the MECP2 gene mutations that cause Rett syndrome, with the goal of developing improved treatments to address specific symptoms and to improve the quality of life for children with this disorder. CHOP is also a participating center for the Rett Syndrome, MECP2 Duplication, and Rett-related Disorders Natural History Study, with the goal of gathering as much data as possible about the disease and leveraging that into more research in the future.