Tag: Genetics

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett...

This is a genetic registry study aimed at developing a central location to store Parkinson’s Disease genetic data for future research use.

The purpose of this study is to characterize the natural history of DRPLA patients using a variety of clinical and biomarker modalities and to identify genetic factors, biomarkers, and clinical measures that could predict disease progression.

The purpose of this study is to identify and genomically-characterize individuals with genetically unexplained neurodevelopmental disorders, such as epilepsy. The overarching goal is to provide patients with improved information about the underlying genetic basis of their disorder and illuminate novel genetically-defined treatment approaches in the future.

This is a genetic registry study aimed at developing a central location to store Parkinson’s Disease genetic data for future research use. Status: Open