Application of next generation sequencing for the genetic characterisation of Irish retinal degeneration patients

A key objective of the current study is to clinically and genetically characterise an extended group of 700-800 Irish patients with inherited retinal degenerations (IRD). The team have significant prior experience in the clinical and genetic evaluation of patients with inherited retinal degenerations. They believe it is timely to address this issue now given the availability of a large group of IRD patients to achieve this and high throughput sequencing technologies (termed next generation sequencing or NGS) for rapidly genotyping multiple genes in multiple patients. Results from the study in this application will define the causative mutations in known genes in some IRD patients and will likely result in the identification of novel mutations in some of these known genes.
In addition, a discovery arm will be included in the study that may result in the identification of some "new" disease causing genes. In some cases, when we cannot find a patient's mutation(s), but the patient has a large extended family with several other affected relatives, the plan is to search the whole genome of people in the family for mutations that are shared by all of the affected members, and none of the unaffected members - these are very likely to be the mutations causing the disease. This approach will help us identify new kinds of mutations causing disease and new genes that we didn't know could be involved in retinal disease before. This will advance the state of the art in terms of our understanding of inherited retinal disease and enable us, as well as other groups worldwide, to include the newly-discovered genes and mutations in future studies. These discoveries will make it easier in future to identify the causes of inherited retinal disease.


Award Date
30 June 2016
Award Value
Principal Investigator
Professor G Jane Farrar
Host Institution
Trinity College Dublin
MRCG-HRB Joint Funding Scheme