Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies

What this Trial Is About

RASopathies are a group of developmental disorders caused by genetic changes affecting the Ras/MAPK pathway, which is important for cell cycle regulation and function. These disorders include several syndromes with unique but overlapping features such as facial differences, heart defects, skin abnormalities, cognitive delays, and a higher risk of cancers. This research aims to better understand these rare and often poorly characterized disorders by collecting biological samples and detailed clinical data from affected individuals and their relatives. The study collects various biological specimens like blood, saliva, tissue samples, and leftover clinical specimens from patients with suspected or confirmed RASopathies. These samples will be used for metabolic studies, genetic analysis, biomarker research, and to create immortalized cell lines. The study also gathers demographic information, medical histories, clinical test results, and survey data to build a long-term research database. Samples and data will be stored for future research and shared with other investigators studying RASopathies. Participants will provide biospecimens and clinical data over many years, with the aim to collect and store information for up to 50 years. Researchers will review medical records and neuropsychological evaluations, and participants will complete surveys to support ongoing research. The study includes both affected individuals and their unaffected relatives, and it allows for long-term monitoring of the natural history and molecular basis of these disorders.

RASopathy Biorepository