Researchers at UCD


David Barton

Adjunct Professor

School Of Medicine & Medical Science
Our Lady's Hospital
Dublin 12

Tel: +353 1 716


David Barton is Chief Scientist (Director) of the Molecular Genetics Laboratory at the National Centre for Medical Genetics in Dublin, Ireland, and Adjunct Associate Professor at University College Dublin.  Having trained in Trinity College Dublin, and The Queen's University of Belfast, he carried out medical genetics research at Yale University and Cambridge University before setting up the NHS molecular genetics diagnostic laboratory in Cambridge. He returned to Dublin to set up his current laboratory at the National Centre for Medical Genetics in 1995.  
Dr Barton has been involved in work to monitor and improve the quality of genetic testing for many years, working with UK NEQAS, the OECD and EuroGentest. He currently chairs the European Molecular Genetics Quality Network.  He co-ordinated the EU CRMGEN project, developing certified reference materials for genetic testing. In EuroGentest he continues to work on reference materials development and also has responsibility for examining the role and impact of IVD regulation in genetic testing. David Barton has published over 100 papers in peer-reviewed journals on many aspects of the molecular genetics of inherited disorders.  Research interests include the genetics of vesicoureteral reflux, male infertility and the development of novel DNA diagnostic devices. 



Book Chapters

Kristofferson U, Schmidke J, Cassiman JJ eds. ; (2010) 'The European IVD Directive and Genetic Testing' In: Quality Issues in Clinical Genetic Services. Springer: Springer. [Details]

Peer Reviewed Journals

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O¿Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR; (2010) 'Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome'. European Journal of Human Genetics, . [DOI] [Details]
Mocanu E, Shattock R, Barton D, Rogers M, Conroy R, Sheils O, Collins C, Martin C, Harrison R, O'Leary J.; (2010) 'All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection'. Fertility and Sterility, . [Details]
Castellani C; Macek M; Cassiman J-J; Duff A; Massie J; Ten Kate LP; Barton D; Cutting G; Dallapiccola B; Dequeker E; Girodon E; Grody W; Highsmith EW; Kääriäinen H; Kruip S; Morris M; Pignatti PF; Pypops U; Schwarz M; Soller M; Stuhrman M; Cuppens H; (2010) 'Benchmarks for Cystic Fibrosis Carrier Screening: A European Consensus Document'. Journal of Cystic Fibrosis, . [Details]
Sunnotel O, Hiripi L, Lagan K, McDaid JR, De León JM, Miyagawa Y, Crowe H, Kaluskar S, Ward M, Scullion C, Campbell A, Downes CS, Hirst D, Barton D, Mocanu E, Tsujimura A, Cox MB, Robson T, Walsh CP.; (2010) 'Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study'. Reproductive biology and endocrinology : RB&E, 8 (22). [Details]

Conference Publications

Barton DE, de Light J, Hehir-Kwa JY, Brady C, Veltman J; (2010) Universal Reference Samples for Diagnostic Copy-Number Variation Analysis The European Society of Human Genetics 2010 [Details]
Higgins M, Crowley A, McDevitt T, Cody N, Meany M, de Baroid C, Adams M, Berkeley E, Nolan C, Clarke R, Farrell M, Daly P, Green A, Barton D; (2009) Spectrum and Incidence of BRCA1 and BRCA2 Mutations in the Republic of Ireland ¿ An Audit British Human Genetics Conference 2009 [Details]
Sweeney M, Baker L, Graham CA, Barton DE, Lynch SA; (2009) Incidence of Fragile X Syndrome in the Republic of Ireland 12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009 [Details]


Research Interests

Our laboratory is located in the National Centre for Medical Genetics at Our Lady's Hospital for Sick Children. 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.

VUR is caused by a subtle anatomical defect, thought to be ectopic insertion of the ureter into the bladder via a shortened tunnel through the detrusor muscle. 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. Dissection of the biological mechanisms underlying this defect will also be of interest from the point of view of the developmental biology of the genitourinary system.
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 3 million genotypes in this study. This work is funded by the Children's Medical and Research Foundation.

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 is aimed at improving the diagnosis of cystic fibrosis (CF) by developing magnetic bead nanosensor and primer-extension microarray devices for genotyping CF patients, and by identifying genes whose expression is altered in CF-affected cells. Following on from this, the SNiP2CHIP project aimed to develop 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,, the world's largest provider of external quality assessment for genetic testing. I coordinated the EU-funded CRMGEN project ( developing reference materials for genetic tests.  The National Centre for Medical Genetics is designated as a centre in the EuroGentest Network of Excellence ( 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.

Children's Medical and Research Foundation

FP7 EuroGentest2
FP6 EuroGentest, SNiP2CHIP

Research Projects

Sponsor : EC Framework
Title : Genetic testing in Europe- Network for the further development, harmonization, validation and standardizatio of services (EuroGentest2)
Start Date / End Date : 01-JAN-11 / 31-DEC-13
Sponsor : Enterprise Ireland (EI)
Title : Joint Research Centre (JRC) - Institute for Health and Consumer Protection, Ispra, Italy - exploratory visit - 10/11/2009
Start Date / End Date : 08-NOV-09 / 10-NOV-09