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Professor David Barton

Professor

David Barton

Adjunct Professor
School of Medicine
(01) 4096749
University College Dublin, School of Medicine, Our Lady's Hospital Crumlin Dublin 12

RESEARCH INTERESTS

Our laboratory is located in the Department of Clinical Genetics at Our Lady's Children's Hospital. Our research is focused on the molecular genetics of inherited disorders and on measuring and improving the quality of molecular genetic testing in medical laboratories. We are very interested in identifying genes involved in the urinary tract disorder vesicoureteral reflux (VUR), which is the reverse flow of urine from the bladder towards the kidneys. VUR is the most common cause of end stage renal failure in both children and adults and it is a major cause of severe hypertension in children. VUR is seen in approximately 1-2% of newborn Caucasians. Substantial evidence exists that VUR is a genetic disorder: siblings of index cases have a 20-45% risk of being affected themselves. Identification of the genes involved will provide insights into the biology of this disorder, and may provide new diagnostic and therapeutic tools for its management. We have assembled the largest collection of families with VUR in the world, and we are carrying out genetic analysis on these families to identify the genes involved in VUR. We have generated well in excess of 2 billion genotypes in this study. This work is funded by the Children's Medical and Research Foundation and the HRB. We have also been involved in the development of next-generation diagnostic devices, in partnership with the Tyndall National Institute in Cork. The CF-CHIP project and the SNiP2CHIP project aimed at developing a hand-held DNA diagnostic nanodevice for rapid point-of-care genetic testing. Other work in the group involves measuring and promoting quality in molecular genetic testing as applied in medicine, through various EU-funded projects. I am currently Chair of the European Molecular Genetics Quality Network (EMQN, www.emqn.org), the world's largest provider of external quality assessment for genetic testing. I coordinated the EU-funded CRMGEN project (www.crmgen.org) developing reference materials for genetic tests. The National Centre for Medical Genetics was designated as a centre in the EuroGentest Network of Excellence (www.eurogentest.org). These efforts provide the essential framework within which the remarkable advances made by the Human Geneome Project can be translated into diagnostic tests which are reliable, accurate and safe. FUNDING AGENCIES: Children's Medical and Research Foundation Health Research Board FP7 EuroGentest2 FP6 EuroGentest, SNiP2CHIP FP5 CRMGEN, CF-CHIP FP4 EMQN