Bookmarks
Biobank for patients with retinal degenerations & dystrophies
Population Size
Not reported
Years
2011
Associated BioSamples
Immortalized cell lines
Geographic coverage
United Kingdom
England
Lead time
Other
Summary
Collection of samples and data across the following diseases: Hereditary retinal dystrophy
Documentation
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.
Dataset type
Health and disease
Dataset sub-type
Not applicable
Keywords
Provenance
Image contrast
Not stated
Biological sample availability
Immortalized cell lines
Details
Publishing frequency
Other
Version
1.0.0
Modified
08/10/2024
Citation Requirements
In Progress
Coverage
Start date
01/01/2011
Time lag
Variable
Geographic coverage
United Kingdom, England
Minimum age range
10
Maximum age range
150
Accessibility
Language
en
Controlled vocabulary
LOCAL
Format
In Progress
Data Access Request
Dataset pipeline status
Not available
Access rights
Please contact the publisher using Contact Point details provided
Time to dataset access
Other
Access request cost
Not specified
Access method category
Varies based on project
Data Controller
Newcastle University