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Nemours Researchers Receive $600,000 for Rett Syndrome Research

Friday, Aug 24, 2012


N. Carolyn Schanen, MD, PhD

Researchers at Nemours/Alfred I. duPont Hospital for Children, Baylor College of Medicine (BCM), and Texas Children’s Hospital have been awarded a $600,000 grant from The International Rett Syndrome Foundation to study therapeutic options for Rett syndrome.

Currently, there is no treatment for Rett syndrome, a unique developmental disorder that is first recognized in early childhood and primarily affects girls. Rett syndrome causes problems in areas of the brain responsible for cognitive, sensory, emotional, motor, and autonomic function. People with Rett syndrome are impaired in hand use and spoken language, and have problems with sensation, mood, movement, breathing and cardiac function, as well as chewing, swallowing, and growth.

The research award went to N. Carolyn Schanen, MD, PhD, head of human genetics research at Alfred I. duPont Hospital for Children, and Jeffrey Neul, MD, PhD, associate professor of pediatrics and neurology at BCM working in the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital. 

The $600,000, two-year grant is to study a therapeutic approach to Rett syndrome that involves targeting a certain gene mutation. Rett syndrome is caused by mutations in the X chromosome on the MECP2 gene. Approximately one-third of Rett syndrome patients have mutations in the MECP2 gene, which prevent the formation of a complete protein. Drs. Schanen and Neul will look at drugs that target these types of mutations and allow the complete protein to be made as a treatment for the disorder.

About Nemours

Nemours is an internationally recognized children's health system that owns and operates the two free-standing children’s hospitals: the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., and Nemours Children's Hospital in Orlando, Fla., along with outpatient facilities in five states, delivering pediatric primary, specialty and urgent care. Nemours also powers the world’s most-visited website for information on the health of children and teens,, and offers on-demand, online video patient visits through Nemours CareConnect. Nemours is a program dedicated to preventing reading failure in young children, grounded in Nemours’ understanding that child health and learning are inextricably linked, and that reading level is a strong predictor of adult health.

Established as The Nemours Foundation through the legacy and philanthropy of Alfred I. duPont, Nemours provides pediatric clinical care, research, education, advocacy and prevention programs to families in the communities it serves.