Inherited corneal disease
Research type
Research Study
Full title
Investigating genetic causes and molecular mechanisms responsible for inherited corneal disease
IRAS ID
301275
Contact name
Alice E Davidson
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
3 years, 2 months, 31 days
Research summary
TThe aim of this study is to determine the genetic cause (the genotype) of various forms of inherited corneal disease (ICD) and identify the underlying cellular mechanisms of dysregulation. This includes a combination of abnormalities of the cornea, conjunctiva, iris or lens. These results will be correlated with the clinical changes observed in affected individuals (the phenotype). This will provide insight into the mechanisms of disease in affected individuals as well as the pathways that control the normal development and structure of the anterior segment of the eye. These studies will be enhanced by laboratory-based investigations of cells cultured from affected individuals who have the gene change of interest. The use of cultured cells allows an assessment of the behaviour of the cells and potential therapeutic options.
Identifying novel genetic causes of ICD will advance understanding of the molecular mechanisms, prognosis, and diagnosis of this disease group. In the longer term, discoveries made are anticipated to drive the design and development of novel therapeutics. Inherited corneal diseases are encompassed. Knowledge acquired from this research will enable the future design and development of gene-directed and non-surgical therapies for ICDs.REC name
East of England - Cambridge South Research Ethics Committee
REC reference
22/EE/0090
Date of REC Opinion
28 Jun 2022
REC opinion
Further Information Favourable Opinion