February 2014

Children with Rare Diseases to Benefit from New Genetic Tests

Fri, 28 February 14 14:00

UCD researchers at Our Lady’s Children’s Hospital Crumlin and the Children’s University Hospital, Temple Street 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 National Centre for Medical Genetics were launched on European Rare Disease Day (February 28, 2014).

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
  • 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 UCD Academic Centre for Rare Diseases (ACoRD).  The three projects were funded by 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, 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 (UCD Academic Centre for Rare Diseases).

Jillian Casey, Sally Ann Lynch, Sean Ennis - 580 x 244

According to Dr Sally Ann Lynch (UCD Senior Clinical Researcher and Consultant Clinical Geneticist), the Principal Investigator on the project,

'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, 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’.

Dr Sean Ennis (UCD Lecturer and Director, UCD Academic Centre for Rare Diseases) commented that

‘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

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 here. 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 UCD Academic Centre for Rare Diseases (ACoRD) is a research centre within the UCD School of Medicine & Medical Science, University College Dublin, which was established in June 2013.  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 UCD and its affiliated clinical sites.