Biobank for patients with retinal degenerations & dystrophies

Collection of samples and data across the following diseases: Hereditary retinal dystrophy Outer retinal disease is the most common cause of blindness in the UK. It can be caused by a variety of single gene defects, including conditions such as retinitis pigmentosa which often result in early onset blindness in childhood, whilst the risk of age related macular degeneration is caused by a variety of complex multigene defects causing visual loss in later life. Treatments are evolving for both diseases but the underlying pathogenesis and treatment of these diseases remains elusive. We have formed the biobank as a repository of fibroblasts (from skin and hair samples) from patients with a variety of retinal diseases that could then be used with induced pluripotent stem cell technology to investigate causes and new treatments for these conditions.

Webpage:
https://www.healthdatagateway.org/dataset/ae2022bc-2083-4e57-b825-1fb610d910ee

Licence:
Name: HDR UK Innovation Gateway Access
URL: https://www.hdruk.ac.uk/infrastructure/gateway/terms-and-conditions/

Tags:

dystrophies retinal biobank degenerations

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