Rita’s dedication to fulfil Oliver’s promise to supply DNA Testing Equipment to the Mater Hospital, Dublin.

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“Oliver, you wanted to help the needy people in Ireland who are dying due to the lack of DNA Gene facilities as current blood tests were sent to America and Spain and taking 2 years to get the results back which was too late for young and old. Through Shabra Charity, you had promised them to supply DNA Gene testing equipment, the first in Ireland through Shabra Charity. Be assured, I promise we shall deliver this”

A Message from Dr Joe Galvin, Cardiologist, Mater Hospital

Molecular Medicine Institute at the Mater

In 1964, an Irish Paediatrician, Conor Ward was asked to see a young girl with recurrent fainting spells, which occurred when she was upset or excited. Her brother who had the same condition had died suddenly during one such episode. Based on her ECG, he diagnosed for the first time an inherited cardiac condition, Long QT Syndrome, the commonest cause of Sudden Adult (or arrhythmic) Death Syndrome (SADS).

In Ireland, approximately one young person under 35 years of age dies suddenly and unexpectedly each week due to SADS (or Sudden infant death syndrome (SIDS) when it occurs under 1 year of age). This can occur due to a number of conditions, almost all of which are caused by gene mutations, alterations in our genetic code. These mutations are almost always inherited by an affected family member from a parent and occur in up to 50% of an affected individual’s siblings.

In 1994, Mark Keating in Salt Lake City, Utah, identified an abnormal gene mutation responsible for LQTS. He and others have since discovered 15 other genes, mutations in which can cause sudden death in young people. Identifying these gene mutations in a family allows doctors to identify which members are at high risk of sudden cardiac death and who needs to be protected with either medications which can prevent the fatal arrhythmia episode or an implantable cardiac defibrillator (ICD) which aborts episodes when they occur with a high voltage electrical shock.

Identifying these gene mutations is done with new technology, machines called gene sequencers. These machines are currently not available in Ireland for clinical genetic work such as identifying the abnormal gene mutation in the thousands of family members of SADS victims who attend our family heart screening clinic at the Mater Heart House. Rather, samples have to be sent out of the country and sequencing is performed in one of a number of labs abroad. Current waiting times vary between 1 and 2 years for test results to return and funding issues will likely make this worse in the short term.

At the Mater Hospital, we are in the process of bringing this technology to Ireland at the new Mater Hospital’s new Molecular Institute. We believe that every country should be in a position to identify the gene mutations present in its population which threaten it with conditions such as SIDS and SADS. We are training up our staff and collaborating with Europe’s leading diagnostic molecular service for cardiac diseases, Health in Code in Spain to help us create a state of the art, world class cardiac Genetics service here in Ireland. To do this we need to raise approximately €1 million to pay for lab refurbishment, automated DNA extraction equipment and the 2 gene sequencers required for identifying the genes responsible for SIDS and SADS…

I am delighted that Shabra Charity has taken the lead to purchase the first machine at the Mater Hospital to support this project.

With your help we can identify all of the families and family members who carry these gene mutations in Ireland and protect them. Thank you for your help.

Dr Joe Galvin,

Cardiologist,

Mater Hospital