Investigating the molecular mechanisms of eye disease
Research type
Research Study
Full title
Investigating the molecular mechanisms of eye disease
IRAS ID
167881
Contact name
Chris F Inglehearn
Contact email
Sponsor organisation
University of Leeds
Duration of Study in the UK
9 years, 11 months, 28 days
Research summary
This study investigates the molecular and genetic causes of eye disorders in human patients. The conditions involved are at least partly inherited and hence are partly caused by faulty genes. Sometimes they involve only one gene but sometimes many are involved. Sometimes the condition is also influenced by diet, exercise, light exposure, smoking history and other factors in our environment. These disorders may manifest in youth or old age, affect the front or back of the eye and may be progressive or static.
Our approach will involve:
1. Patient identification by ophthalmologists with a specific expertise in the eye structures affected.
2. Detailed characterisation of the clinical and subclinical changes that are associated with the condition.
3. Screening of patients’ DNA to find errors in the genetic code that cause, or increase risk of, eye disorders.
4. Screening of patients’ RNA (the “active” copies of the genes) to spot the consequences of those errors in the code as the genes are copied in the cells.
5. Screening of patients’ proteins to spot the consequences of those errors as the genes are “read” to make proteins in the cells.
6. Screening the biochemical profile in samples from patients to spot the consequences of those errors on their overall metabolism.
7. Analysis of patient cells in tissue culture to study the effect of those errors on the patients' cells.
Through these approaches we aim to better understand the causes of human eye diseases so as to help Doctors reach clearer diagnoses and improve treatment, as well as contributing to the search for new and better cures for these debilitating conditions.
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
17/YH/0032
Date of REC Opinion
13 Mar 2017
REC opinion
Further Information Favourable Opinion