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New Gene Discovery Research funded by Fighting Blindness

New Gene Discovery Research funded by Fighting Blindness content

Fighting Blindness is delighted to announce the start of a new research project co-funded by the Health Research Board through the Medical Research Charities Group co-funding scheme. This project entitled “Application of Next Generation Sequencing for the Genetic Characterisation of Irish Retinal Degeneration Patients” forms part of the Target 5000 initiative and is led by Prof Jane Farrar and Dr Matthew Carrigan of Trinity College Dublin (TCD).

The dedicated and significantly experienced team will use state of the art technologies and continue to build on their previous work in the genetic characterisation of individuals in Ireland with inherited retinal degenerations (IRDs). Next Generation Sequencing (NGS) is a modern technology that has greatly accelerated the identification of potential mutations in genes that cause retinal disease.

However, for approximately 40-45% of people affected by an IRD, a likely disease-causing gene has yet to be identified. Addressing this, the present study includes a ‘Discovery Arm’ with the aim of establishing methodologies to further explore the cause of disease in these cases.

The goal is to advance the understanding of inherited retinal disease and enable groups worldwide to include any newly-discovered genes and mutations in future studies. We wish the team at TCD every success.