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Written by:
Muireann Leonard
September 24, 2017

On Friday, 15th September the Mater Misericordiae University Hospital, a part of the Ireland East Hospital Group, launched the opening of their new state-of-the-art Next Generation Sequencing (NGS) Laboratory. The new Gene Sequencing Equipment was donated to the Mater Hospital by Shabra Charity keeping the promise of the late Oliver Brady, co-founder of the charity and popular businessman and horse trainer. 

This world class Next Generation Gene Sequencing Laboratory will house gene sequence equipment enabling germline testing for the Irish population.  Patients and families suffering from heart disease, blindness and cancer, specifically BRCA 1 and BRCA 2 cancer patients will benefit from genetic testing provided by this equipment and NGS Laboratory.

It is estimated that there were 250 young people under the age of 35 suffering from and dying of Sudden Adult Death Syndrome (SADS) in Ireland every year.  This facility can now help identify genetic changes underlying this syndrome and enables clinicians to help patients and their relatives to diagnosis and treat many of these patients with inherited conditions sooner.

Currently, for confirmatory testing of certain genetic conditions or inherited diseases, patients samples must be sent to laboratories across the world (US, Spain, UK, Germany) which means lengthy waiting times for results and significantly increased costs.  Moreover, repatriation of these tests will enable Irish clinicians and researchers to develop and optimise new treatments.  At the moment, at the Mater Hospital alone, at least 150 patients and relatives of people with inherited cardiac conditions are waiting for testing.  The new laboratory will establish a more rapid turnaround time for tests and will abolish lengthy waiting lists.