Target 5000 is an all-Ireland initiative that provides clinical and genotyping services for individuals and families living with or affected by inherited retinal degeneration (IRD).
Fighting Blindness has invested over €2 million in Target 5000 since 2013.
IRDs refer to a group of often rare conditions in which defects in genes lead to photoreceptor cell death and associated vision loss.
There are three clinical sites as part of Target 5000, two in Dublin and one in Belfast.
Prof David Keegan is the clinical lead at the Mater Misericordiae University Hospital (MMUH), Dr Paul Kenna and Dr Emma Duignan are the clinical leads at the Royal Victoria Eye and Ear Hospital (RVEEH), Dublin and Ms Giuliana Silvestri is the clinical lead at Belfast Health and Social Care Trust in Northern Ireland.
The research arm is led by Prof Jane Farrar at Trinity College Dublin and includes research groups in Dublin and Radbound University, Nijmegen, the Netherlands.
Fighting Blindness has funded Target 5000 to date, however it was always our aim that this genetic testing be taken as a human rights based approach. Our members rely on hospital consultants to implement the programme. Fighting Blindness has no operational control, and cannot interfere with the process.
Always contact your consultant or health care professional. Contact details for the clinical sites can be found on the FAQ page.
Striving to provide the greatest support and the highest level of clinical care to the IRD community in Ireland, four key goals underpin the Target 5000 programme.
1. To provide a genetic and clinical diagnosis to people living in Ireland with an inherited retinopathy
Inherited retinal degenerations (IRDs) are among the most complex of all genetic conditions, involving more than 270 genes. Alongside the many different genes that can cause an IRD (known as your genotype), experiences in terms of age of onset and level of severity of sight loss can also vary greatly from person to person (known as your phenotype). As such, it is often impossible to give an accurate diagnosis by just routine eye examinations and/or imaging. To receive a complete diagnosis, requires genetic testing.
2. To develop a national registry of inherited retinopathies and enable access to clinical trials and approved therapies in Ireland and abroad
A registry is a central resource cataloguing all those who have a specific medical condition within a geographic area, usually a country. The need for patient registries arises from a desire to have accurate, valid, reliable and timely information about a particular patient group or condition.
This is true for rare diseases, which are often poorly understood and not well documented. As part of Target 5000, a national registry on inherited retinopathies is being established, incorporating both genetic and clinical data.
This data may be used in the future to identify potential eligible participants for clinical trials or approved therapies. Additionally, information captured by this registry can facilitate research and help improve health care services and management.
3. To embed an excellent clinical management infrastructure
Target 5000 has established Ireland’s first ophthalmology specific clinical genetics service for participants. This includes the appointment of clinical genetic experts to the programme who can interpret and deliver important genetic information back to people and their families.
Target 5000 also aims to ensure the availability of resources at clinics to provide details on supports and services available or up to date information on research advances and therapeutic development.
4. To discover new genes responsible for inherited retinal degenerations
For approximately 65% of cases, genetic testing in inherited retinal degenerations is inconclusive. However, we can now dig deeper into the genome in the hope of finding unknown causes of disease. These may be mutations in new genes but also undiscovered mutations outside the protein-coding parts of a gene, known as intronic regions.
Under the ‘Discovery Arm’ of Target 5000, Fighting Blindness is funding scientists in Ireland and abroad to greater understand the mechanisms behind retinal disease and to find as yet unknown genetic causes of retinal degenerations.