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News & Recognition
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- Genetic Testing for Patients With Presumably Genetic Conditions and Family Members
- Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies
- Genetic Basis of Cryptorchidism: Prospective Study
- Primordial Registry
- Rhizomelic Chondrodysplasia Punctata Registry
Nemours Researchers Receive $600,000 for Rett Syndrome Research
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.