Gene Discovery and Characterization in Neurological Diseases
Overview
Neurogenetic diseases contribute significantly to morbidity and mortality and include conditions such as epilepsy, intellectual disability, cerebral palsy (CP), and rarer movement disorders. Despite advances in genomic medicine, many individuals with suspected genetic neurological conditions do not receive a definitive diagnosis.
We have partnered with Phoenix Children’s Hospital as one of the recruitment sites for the Gene Discovery and Characterization in Neurological Diseases study. Through this collaboration, the study aims to identify novel genetic causes of neurological disease and better understand how these genetic changes affect brain function. By studying genetically informative families, this work supports improved diagnosis and lays the foundation for future targeted therapies.
Study Goals
- Find new genes linked to neurological conditions
- Confirm genetic changes related to conditions like cerebral palsy
- Learn how these genetic changes affect the brain and body
Process
- Patients are seen at Columbia during regular clinic visits
- Providers share a study brochure with patients who may be eligible
- Patients scan the QR code to learn about the study and enroll on their own
- Consent is completed electronically through a secure system
- A saliva sample is collected using a kit mailed to the participant’s home
Contact
If you are interested in participating in the genetics study or getting more information, please contact cpresearch@cumc.columbia.edu.