Rett Syndrome: For Researchers and Health Care Providers

• The Angelman, Rett, and Prader-Willi Syndrome Consortium (ARPWSC), http://rarediseasesnetwork.epi.usf.edu/arpwsc/physicians/index.htm, is a group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in genetic and neurodevelopmental disorders. Its goal is to improve the care of patients with Angelman syndrome, Prader-Willi syndrome, and Rett syndrome.
• The NICHD's Intellectual and Developmental Disabilities Branch published its Report to the NACHHD Council (PDF - 1.01 MB) in 2009, which summarizes the branch's information on funding and progress in research for several diseases, including Rett syndrome. See in particular pages 8, and 22 to 24.
• The National Center for Biotechnology Information provides access to biomedical and genomic information. Its MECP2-Related Disorders webpage includes information about classic Rett syndrome.
• The National Organization for Rare Disorders' Research Grant Program provides small grants to academic scientists who are studying new treatments or diagnostics for rare diseases. Visit the organization's Medical Professionals webpage.
• The Rett Syndrome Research Trust, http://www.rsrt.org/research, was founded by a small group of research-oriented parents to accelerate and intensify scientific exploration. The organization identifies, supports, and monitors novel research projects.
• The International Rett Syndrome Foundation (IRSF) has established the Web-based IRSF MECP2 Gene Variation Database (RettBASE). This database merges data on mutations and polymorphisms from the published literature pertaining to Rett syndrome and related clinical disorders. It also includes unpublished data on mutations and polymorphisms that have been submitted directly to IRSF. RettBASE is updated frequently to ensure the data's validity. The foundation has a search engine to help people obtain information relevant to their questions on research or clinical care.
• IRSF also sponsors the International Rett Syndrome Phenotype Database (InterRett), a database run by the Telethon Institute for Child Health Research website. InterRett was established in 2002 to collect information about children and adults with Rett syndrome of any age from around the world. Data from InterRett is linked into RettBASE.
• The laboratory of Dr. Huda Y. Zoghbi, http://www.bcm.edu/labs/zoghbi, a longtime NICHD grantee, has produced work on Rett syndrome that has helped to greatly advance the field. She is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology, and Neuroscience at Baylor College of Medicine. She is also an investigator at the Howard Hughes Medical Institute and the director of the Texas Children's Jan and Dan Duncan Neurological Research Institute.

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.