Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository
University of Pittsburgh
Summary
The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen sequencing including whole exome and whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies - all ordered as clinically deemed appropriate, natural history from clinical longitudinal follow-up and to use de-identified information from this registry/ repository, when appropriate for clinical and translational research.
Description
Patients seen in the neurogenetics clinic with a clinical phenotype or a pedigree supportive of a genetic disease will be considered for the study. Autosomal recessive inheritance will be suggested by at least two affected sibs with healthy parents who may also have other unaffected children. Autosomal dominant inheritance will be suggested by multiple affected family members in multiple generations. Lack of family history could be suggestive of autosomal recessive inheritance or de novo autosomal dominant inheritance. Informed consent will be completed prior to any research procedures or gen…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Patients evaluated at the Neurogenetics clinic and suspected to have an underlying neurogenetic disorder will be included. * Patients with known abnormal genetic testing with a neurological phenotype will be included. Exclusion Criteria: * Patient with acquired diagnosis, which can explain the patients clinical symptoms and with a clinical phenotype or family history not suggestive of an underlying genetic etiology.
Location
- Children's Hospital of Pittsburgh of UPMCPittsburgh, Pennsylvania