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Version: 1.0.0 | Published: 8 Oct 2024 | Updated: 273 days ago

Biobank for patients with retinal degenerations & dystrophies

Dataset

Documentation

Description:
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.

Coverage

Spatial:
United Kingdom,England
Typical Age Range:
10-150

Provenance

Temporal

Start Date:
01 January 2011
Time Lag:
Variable

Accessibility

Access

Access Rights:
Please contact the publisher using Contact Point details provided
Access Request Cost:
Not specified
Delivery Lead Time:
Not applicable
Data Controller:
Newcastle University

Usage

Resource Creators:
In Progress

Format and Standards

Vocabulary Encoding Schemes:
LOCAL
Languages:
en
Formats:
In Progress
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