Genetic characterisation of a cohort of Irish retinal degeneration patients

Lead Researcher:

Prof Jane Farrar

Award Date:

1 January 2013

Host Institution:

Fighting Blindness

Scheme:

Medical Research Charities Group Co-Fund Award

Summary:

The information emerging from the human genome sequencing project and the development of the associated DNA sequencing technologies allows us now to probe the underlying causes of many inherited disorders. It turns out that mutations / mistakes in many different genes whose products (proteins) play an important function in the eye are present in a group of inherited disorders which involve loss of cells in the retina, the light sensitive tissue at the back of the eye. For any one patient, you cannot tell by their clinical symptoms which mutant gene is causative of the disease in that patient. To ascertain this, we have to sequence DNA from each patient and establish which gene is mutated. Given that it is now possible to sequence many different genes from many patients very rapidly using technologies termed next generation sequencing (NGS) technologies, it is planned in the proposed study to test the DNA from 500-600 Irish retinal degeneration patients and to try to establish which mutations are causing the diseases in this group of patients. In parallel with developments in DNA sequencing, there have been large developments in gene therapy. If we know the genetic cause of a disease, in principle, we may be able to design a gene therapy to treat the disease. Gene therapies are being developed for many different forms of inherited eye disease, however, for some of these therapies it will be extremely important to know exactly which genetic disease a particular patient has, so that they can be given the correct therapy. Furthermore these therapies are ether being tested in animals or some are in human clinical trial. In order for patients to be able to join such trials, it will be important to establish which genetic form of eye disease they have. Therefore we propose to undertake this study on 500-600 Irish patients with retinal degenerations to try to define the genetic causes of the diseases in these patients.