The National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Mental Health (NIMH), the National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Association (IRSA), and the Rett Syndrome Research Foundation (RSRF) encourage grant applications for research on Rett syndrome (RTT) and the MECP2 gene.*
RTT is a severely debilitating neurodevelopmental disorder for which there is no cure; current treatment is symptomatic only. Until recently, little progress had been made in understanding the cause of RTT or in developing approaches for its treatment. However, the demonstration that mutations in the MECP2 gene are responsible for the majority of cases of RTT suggests new avenues for research and therapy development.
Areas of research interest include, but are not limited to: developmental, neuroanatomical, osteological, electrophysiological, and imaging studies to identify specific abnormalities in RTT patients or in animal models of RTT; studies of transcriptional and post-transcriptional regulation of MECP2 expression in neurodevelopment and neuronal maturation; identification of genomic targets of MECP2 actions; identification and analysis of gene mutations (or polymorphisms) in RTT patients or RTT animal models, including genotype-phenotype investigations of RTT; investigation of the role of MECP2 in other neurological or neurobehavioral disorders, and studies of other conditions and clinical abnormalities that co-occur in families of individuals with RTT; development of more sophisticated cellular or animal models for RTT; neurodevelopmental and longitudinal studies of RTT patients that investigate the neuropathological progression and inherent variability of the disease; identification of the downstream molecular targets of MECP2 with a focus on potential molecular targets for drug therapy of RTT; clinical studies of the problems that afflict children and adults with RTT; and clinical studies including genotype-phenotype analyses that will provide a rational foundation for the treatment or management of RTT.
For more information, potential applicants should contact Dr. Laura Mamounas, Program Director, Neurogenetics Cluster, NINDS, Neuroscience Center, 6001 Executive Boulevard, Room 2132, Bethesda, MD 20892; telephone: 301-496-5745; fax: 301-402-1501; e-mail: email@example.com.
*For a more detailed description of this program announcement, please visit the NIH web site at: http://grants.nih.gov/grants/guide/pa-files/PAS-05-024.html.