AIRDP
Research type
Research Study
Full title
Inherited Retinal Degenerations: All Ireland Retinal Degenerations Partnership (AIRDP)
IRAS ID
182715
Contact name
Giuliana Silvestri
Contact email
Sponsor organisation
BHSCT
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Retinitis Pigmentosa (RP) is the most common inherited degeneration affecting approximately 1:4000 people. The symptoms are night blindness, tunnel vision and reduction of central vision. Although the symptoms of RP and other IRDs 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 at the Belfast Trust & Centre for Experimental Medicine at QUB and the Dublin Centre for Clinical Research and in Trinity College Dublin.
Through work carried out over the past 15 years, our groups have already established individual databases and family pedigrees for many of those affected by IRD. Screening of the genes involved is on-going and a number of disease causing mutations have already 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).
An All-Ireland partnership would provide better opportunity for the study of the genetic mutations causing IRD in all of Ireland and would make more efficient use of resources bringing results to patients more swiftly.
The main aims of the project are as follows:
1. To proceed with confirmation of mutations found in a research setting in an NHS-accredited laboratory to allow feedback to patients and families (200 families)
2. To enrol new individuals with IRD.
3. To combine patient data to form an All-Ireland Database (non-identifiable data only)
4. To extend known mutation positive pedigrees with the help of a Genealogist, to find additional available members in Ireland if permission granted by family members.
5. To run 20 Specialized Genetic-Ophthalmic Clinics in Belfast and in Dublin to feedback genetic information to families
6. To develop clinical testing protocols to prepare patients for clinical trials.REC name
HSC REC B
REC reference
16/NI/0209
Date of REC Opinion
20 Oct 2016
REC opinion
Unfavourable Opinion