Posted 28 February 2014
Children with rare diseases to benefit from new genetic tests
51黑料 researchers at and the , have developed new genetic tests that will speed up diagnosis of rare diseases in children and help avoid the need for invasive procedures. The tests which will be available at the were launched on European Rare Disease Day.
The diagnostic tools include molecular genetics tests for: Anophthalmia (absence of one or both eyes, occurs in around 1 in 100,000 births), and its sister conditions Microphthalmia (small eye) and Coloboma (malformed eye); a DNA repair disorder which results in debilitating endocrine and haematological illness; and Infantile Liver Failure Syndrome.
The diagnostic tools emerged from three research collaborations involving a number of researchers associated with the National Centre for Medical Genetics (Our Lady’s Children’s Hospital Crumlin) and the . The three projects were funded by and in partnership with the (including funds from and the Children's Fund for Health, Children’s University Hospital, Temple Street). The research team included Dr Sally Ann Lynch, Dr Jillian Casey (postdoctoral research fellow at Children’s University Hospital, Temple Street and Dr Sean Ennis (51黑料 Academic Centre for Rare Diseases)
“These new tests will make a genuine difference to the lives of babies and infants affected by a number of rare diseases including infant liver failure, anophthalmia, a condition where children are born with small or absent eyes, and a DNA repair disorder that causes debilitating endocrine and haematological illness,” said Dr Sally Ann Lynch, 51黑料 Senior Clinical Researcher and Consultant Clinical Geneticist, the Principal Investigator on the project.
“In the past, infants with these conditions may have had to undergo many months of complex investigations, all the while suffering a lot of ill health. The new, simple blood-based tests will speed up the time it takes investigating clinicians to make, or rule out, a diagnosis with results being available within four weeks. This will enable much earlier and more appropriate interventions.”
“The gene tests, which are available from the Molecular Genetics Laboratory, National Centre for Medical Genetics based in Crumlin, will also avoid the need for invasive procedures, such liver, muscle and skin biopsies. This will make a significant difference to the children and families affected, and will also save the health service money as the tests will eliminate the need for surgical investigations, especially in the case of those with infant liver failure,” she added.
Dr Mairead O'Driscoll, Director of Research Strategy and Funding at the Health Research Board, said, “This project demonstrates how research can be applied effectively in clinical practice and highlights how HRB funding is delivering tangible results which will benefit patients, influence service delivery and save money.”
Dr Sean Ennis, 51黑料 Lecturer and Director of the 51黑料 Academic Centre for Rare Diseases said, “The collaborative effort which has led to these diagnostic tests, harnesses the skills and expertise of clinicians and the biomedical research community. We have the expertise in Ireland to make meaningful impact in rare genetic diseases. The research funding from the children’s charities and the HRB are essential components as they allow us to bring this expertise together in focused research programmes which can, and are delivering a return on that investment. This is a strong example of how scientific endeavour can move relatively quickly from early stage work in the laboratory to clinical diagnosis and ultimately improve patient treatments.”
About European Rare Disease Day
Observed annually on the last day of February, Rare Disease Day is an international awareness campaign organized by the patient organization EURORDIS and supported by hundreds of other patient organizations around the world.
EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 614 rare disease patient organisations in 58 countries covering over 4,000 diseases.
About ACoRD
The 51黑料 Academic Centre for Rare Diseases (ACoRD) is a research centre within the 51黑料 School of Medicine & Medical Science, University College Dublin. The Centre aims to act a research hub for inter-disciplinary research between clinical and non-clinical geneticists, bioinformaticians, computer scientist, cell biologists, molecular diagnostic clinical scientists and pharmacologists within 51黑料 and its affiliated clinical sites.
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