Inherited retinal degenerations: All Ireland Retinal Degenerations Partnership (AIRDP)

Retinitis Pigmentosa (RP) is the most common inherited disorder of the retina affecting approximately one in 4000 people. The symptoms of RP are night blindness, tunnel vision and reduction of central vision. Although the symptoms of RP are broadly similar in most people, the genetic causes are complex with over 50 genes being involved. Due to this variability, genetic testing is difficult and costly. This project seeks to build on work already ongoing in the Centre for Experimental Medicine at Queen's University Belfast, the Dublin Centre for Clinical Research (DCCR) and in Trinity College Dublin. Through work carried out over the past 15 years, our groups have already established databases and family pedigrees for many of those affected by RP. Screening of the genes involved is on-going and a number of disease causing mutations (spelling mistakes in the genetic code) have been identified. The aim of this proposal is to combine efforts and resources to form an all-Ireland research group which will be known as the All-Ireland Retinal Degenerations Partnership (AIRDP). The advantages of an All-Ireland partnership would allow extension of family pedigrees across the border and would also allow better opportunity for the study of disease progression according to genetic subtype, which would be helpful when counselling those affected.

The main aims of the project are as follows:
1. To combine patient data to form an All-Ireland Database (confidentiality maintained).
2. To extend known pedigrees with the help of a Genealogist, to find additional available members in Ireland.
3. To acquire funding to allow confirmation of mutations found in a research setting in an NHS-accredited laboratory to allow feedback to patients and families (200 families).
4. To run 20 Specialized Genetic-Ophthalmic Clinics in Belfast and 20 in Dublin to feedback genetic information to families.
5. To develop clinical testing protocols to prepare patients for clinical trials.

Award Date
20 June 2014
Award Value
€236,028
Principal Investigator
Dr Maria Meehan
Host Institution
Fighting Blindness
Scheme
MRCG-HRB Joint Funding Scheme