Inherited eye diseases are the most common cause of sight impairment in children and young adults in the UK. Untreatable genetic diseases of the retina alone affect 1 in 2,000 individuals, with profound impacts on the quality of lives of those affected and a financial cost to the UK of £525 million each year.
To develop effective treatments that improve the outcome for people affected by inherited eye diseases, we will harness genomic data to innovate diagnostics and personalised treatments including gene modulating therapeutics to prevent blindness.
Aims
Genome identification
We will identify the genome variants responsible for disease using our diverse cohort of patients and adopt genetic diagnoses and testing through national initiatives and partnerships.
Treatment discovery
We will determine the functional consequence of genome variants and innovate targeted therapies for genetic eye diseases.
Treatment delivery
We will expand our translational pipeline of early-phase clinical trials to accommodate and accelerate the delivery of treatments for the benefit of people affected by a range of genetic disorders of the retina, optic nerve and cornea.
Theme co – leads
Prof.
Alison Hardcastle
View academic profile
Prof.
James Bainbridge
View academic profile
Genomic Discoveries and Therapies
What happens when there is something wrong with our genetic code?
Faulty gene variants can cause eye disease; there are more than 350 genetic eye diseases
We are identifying the variants and the problems
We are finding treatments for these gene variants
We are finding ways to get these treatments to patients as quickly as we can
N I H R Moorfields Biomedical Research Centre
Spotlight story
Keratoconus risk calculator developed
A new tool for showing the risk factor in developing keratoconus to clinicians and to aid discussions with patients has been designed by a team supported by the NIHR
