Establishment of Genetic Basis for Neurological Disease by Genetic Screening and Development of Disease-specific Induced Pluripotent Stem (iPS) Cells From Dermal Fibroblasts in Selected Patients

iPS gene study CRE-2012.361

Hereditary neurological disorders are relatively common in paediatric neurological practice, but it has considerable overlap with adult neurological disorders. It is a group of of genetic diseases, most of which with a Mendelian inheritance affecting neurological system. Pathogenic mechanisms of these diseases are not fully understood. There is currently no effective therapy for most of these diseases. Disease-specific and patient- specific iPS cells would provide useful source of cells in culture modeling in these diseases. In this study, disease-specific iPS cell lines repositories from hereditary neurological disease patients will be established. The cell lines will be registered and make them available to other investigators.

2012-11-16

2025-12-31

2025-12-31

200

Inclusion Criteria: 1. Individuals at age 18 years or older who have presumed hereditary neurological disease. 2. Individuals or his/her guardian who can provide the informed consent. Exclusion Criteria: 1. Individuals who are allergic to local anesthetics. 2. Individuals who have serious medical conditions that restrict their ability to tolerate skin biopsy. 3. Individuals who have history of bleeding diathesis or use of anticoagulant medications. Patients taking nonsteroidal anti-inflammatory agents will be asked to discontinue these medications 3 days prior to skin biopsy.

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood and skin sample will be saved for genetic test'}, 'enrollmentInfo': {'count': 200, 'type': 'ESTIMATED'}}

2023-02-08