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Kids with rare diseases to benefit from new genetic tests

27 February 2014

HRB-funded researchers at Crumlin Children's Hospital and University College Dublin (UCD) 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 will be launched on European Rare Disease day (February 28, 2014)

According to Dr Sally Ann Lynch, the Principal Investigator on the project and a Consultant Clinical Geneticist at Crumlin Hospital and Temple Street Children's University Hospital,

'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.

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 at the 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'.

Dr Mairead O'Driscoll, Director of Research Strategy and Funding at the Health Research Board, says,

'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. That is success’.  

Ends

Notes for editors

The research is the culmination of three projects funded by the Health Research Board and in partnership with the Medical Research Charities Group (including funds from National Children's Research Centre and the Children's Fund for Health - Temple Street Children's University Hospital).

February 28th is Rare Disease Day. This is an annual event to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The European Organisation for Rare Disease (EURORDIS) has launched a 2014 Rare Disease Day Video which is available at the link below.

For more information or to arrange an interview with Dr Sally Ann Lynch and Dr Jillian Casey (the Post-Doctoral researcher on the project), please contact:

Brian Cummins, Health Research Board, e bcummins@hrb.ie, t 01 2345136, m 086 8037551

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