The NICHD studies the cellular, molecular, and genetic mechanisms associated with Prader-Willi syndrome and other types of intellectual and developmental disabilities (IDDs).
Through its IDD Branch, the institute supports research and research training aimed at understanding IDDs, including Prader-Willi syndrome, and on ways to detect and treat these disorders and their symptoms. In recent years, the IDD Branch portfolio has expanded its support of projects related to the roles of methylation, histone modification, genomic imprinting, and other factors related to epigenetic disorders such as Prader-Willi syndrome. This expansion reflects increased attention within the research field for these topics.
In addition to individual projects on Prader-Willi syndrome and epigenetic disorders, the Branch supports the Angelman, Rett & Prader-Willi Syndromes Consortium (ARPWSC), part of the larger NIH Rare Diseases Clinical Research Network (RDCRN). The RDCRN includes 19 distinct Rare Disease Clinical Research Consortia that work together to improve the availability of information, treatment, clinical studies, and general awareness of rare diseases for patients, families, and the medical/research community. The NICHD supports three consortia: ARPWSC, the Urea Cycle Disorders Consortium, and the Sterol & Isoprenoid Research (STAIR) Consortium.