The NICHD sponsors research and research training aimed at preventing intellectual and related developmental disabilities and ameliorating their effects. Specific programs support biomedical, biobehavioral, behavioral, and translational research in the etiology and pathophysiology of Rett syndrome and in its screening, prevention, treatment, and epidemiology. The genetics of Rett syndrome is also an important area of NICHD research. In fact, it was Institute-funded scientists who in 1999 found that one cause of this disorder is a mutated MECP2 gene.
NICHD-supported research into Rett syndrome includes the study of:
- Its cause
- The replication, co-regulation, expression, and role of the MECP2 gene and other genetic causes of or contributors to Rett syndrome
- The relationship between genes and physical traits in patients with the syndrome.
- The role played by glia cells in manufacturing MeCP2 protein
- Brain features and abnormalities associated with the MECP2 gene
- Commonalities with and differences from classic autism and regressive autism
The NICHD also funds the Angelman, Rett, and Prader-Willi Syndromes Consortium, a network of health care providers and research labs across the U.S. that collaborate on developing treatments for people with Angelman syndrome, Rett syndrome, and Prader-Willi syndrome as well as investigating the causes of these disorders.1