Protein defects in retinal degenerations (version 0.9)
Research type
Research Study
Full title
Investigation of protein defects in inherited retinal degenerations
IRAS ID
164259
Contact name
Heather House
Contact email
Duration of Study in the UK
4 years, 11 months, 29 days
Research summary
An experimental clinical laboratory research study to investigate both the expression levels and the functions of the corresponding defective proteins in fibroblast cell cultures derived from skin biopsies of patients with inherited retinal degenerations. Potential participants will be defined based on their clinical history of inherited retinal disorders and identification of specific gene defects from genetic testing, and will be invited to take part in the study. A skin punch biopsy and matched blood sample will be taken from the patient with informed consent during their hospital visit. The skin sample will be taken to the laboratory and cultured for several days until aliquots of cells are frozen and stored for future use in laboratory experiments aiming to better understand the basic cellular and molecular aspects of the disease. A matched blood sample from each patient will be processed to extract genomic DNA that will be used later for confirmation of gene mutations and polymorphisms responsible for the retinal degeneration. In the end, cells in use will be killed off. Stocks will be kept for a period of 10 years; after this period, all samples in stock will be disposed in accordance with the Human Tissue Authority Code of Practice.
REC name
Wales REC 7
REC reference
15/WA/0087
Date of REC Opinion
4 Mar 2015
REC opinion
Favourable Opinion