Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
Columbia University
Summary
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.
Description
Neurodevelopmental disorders are a group of disorders in which the development of the central nervous system is disturbed. The genetic basis for many neurodevelopmental disorders has continued to expand and a recent gene called HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2) is one such gene that is associated with a common neurodevelopmental disorder characterized by developmental delay, intellectual disability, autism and autistic features, and tone abnormalities, among other multisystem problems. The investigators will expand the genetic cohort to include any indiv…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene. Exclusion Criteria: * Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.
Location
- Columbia University Irving Medical CenterNew York, New York