Genes, Vol. 10, Pages 713: The Global Prader –Willi Syndrome Registry: Development, Launch, and Early Demographics

Genes, Vol. 10, Pages 713: The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics Genes doi: 10.3390/genes10090713 Authors: Jessica Bohonowych Jennifer Miller Shawn E. McCandless Theresa V. Strong Advances in technologies offer new opportunities to collect and integrate data from a broad range of sources to advance the understanding of rare diseases and support the development of new treatments. Prader–Willi syndrome (PWS) is a rare, complex neurodevelopmental disorder, which has a variable and incompletely understood natural history. PWS is characterized by early failure to thrive, followed by the onset of excessive appetite (hyperphagia). Additional characteristics include multiple endocrine abnormalities, hypotonia, hypogonadism, sleep disturbances, a challenging neurobehavioral phenotype, and cognitive disability. The Foundation for Prader–Willi Research’s Global PWS Registry is one of more than twenty-five registries developed to date through the National Organization of Rare Disorders (NORD) IAMRARE Registry Program. The Registry consists of surveys covering general medical history, system-specific clinical complications, diet, medication and supplement use, as well as behavior, mental health, and social information. Information is primarily parent/caregiver entered. The platform is flexible and allows addition of new surveys, including updatable and longitudinal surveys. Launched ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research