Determining genetic causes of unsolved inherited retinal dystrophies
Research type
Research Study
Full title
Determining the genetic causes of previously unsolved inherited retinal dystrophies
IRAS ID
318157
Contact name
Roly Megaw
Contact email
Sponsor organisation
University of Edinburgh
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
3 years, 11 months, 31 days
Research summary
The inherited retinal dystrophies (IRDs) are the leading cause of visual loss in children and working adults. They are caused by mispelling (mutations) of the DNA in genes that are crucial for the light sensing cells in our eyes to function. When these crucial genes are mutated, the gene malfunctions, the light sensing cells do not work and, eventually, they die.
We know that mutations in any one of over 280 genes can cause IRDs. But despite this advance in our knowledge of the genetic causes, only 70% of our IRD patients have a causal gene and mutation(s) identified on genetic testing. We believe this is because some of our patients have mutations in multiple known genes, each of which is not enough to cause the disease in isolation, but together could result in death of the light sensing cells.
We would like to test this by re-analysing the DNA of our patients in Scotland with an IRD that have not had a causal gene identified on genetic testing. We will compare this data to the DNA of matched controls who do not have an IRD. This will allow us to identify combinations of DNA changes that are present, or more frequently present, in our patients than in controls, and that account for their disease.
In doing so, we will aim to determine the proportion of our previously undiagnosed patients whose disease we can confidently attribute to genetic variants.
REC name
North West - Greater Manchester East Research Ethics Committee
REC reference
22/NW/0398
Date of REC Opinion
6 Feb 2023
REC opinion
Further Information Favourable Opinion