Researchers at UCD


David Barton

Chief Scientist & Adjunct Professor

School of Medicine
National Centre for Medical Genetics
Our Lady's Children's Hospital
Dublin 12

Tel: (01) 409 6749


I direct the Molecular Genetics Laboratory at Our Lady's Children's Hospital, providing genetic testing for inherited disorders. I have a major research interest in vesicoureteric reflux, a congenital anomaly causing kidney damage. I am involved in networks to measure and improve the quality of genetic testing in Europe and world-wide.  In these networks, I also provide expertise in reference materials and the regulation of diagnostic devices.


UCD Academic Centre on Rare Diseases

Chair, Board of Management, European Molecular Genetics Quality Network (EMQN)

Chair, Irish Molecular Diagnostics Network

Chair, Advisory Group on Molecular Diagnostics, Academy of Clinical Science & Laboratory Medicine




Association: Board of Management, European Molecular Genetics Quality Network (EMQN), Function/Role: Chair
Association: Irish Molecular Diagnostics Network, Function/Role: Chair
Association: Advisory Group on Molecular Diagnostics, Academy of Clinical Science & Laboratory Medicine, Function/Role: Chair

Conference Contributions

Barton, DE (2015) New European IVD regulations - Update and analysis. [Oral Presentation], Advanced Molecular Diagnostics, Lisbon, Portugal , 13-APR-15 - 16-APR-15.
Sousa, S; Alonso, I; Patton, S; Barton, DE; Wieczorek, S; Martindale, JE; Seneca, S; Sequeiros, J (2015) Ten years of SCA external quality assessment (EQA) schemes organised by EMQN. [Poster Presentation], European Human Genetics Conference, Glasgow, UK , 06-JUN-15 - 09-JUN-15.
O'Byrne, JJ; Sweeney, M; Donnelly, DE; Lambert, D; Beattie, D; Gervin, CM; Graham, CA; Barton, DE; Lynch, SA (2015) Incidence of fragile X syndrome in Ireland - an all Ireland study. [Poster Presentation], European Human Genetics Conference, Glasgow, UK , 06-JUN-15 - 09-JUN-15.

Journals Edited

Journal Of Medical Genetics: Reviewer.
Neurodegenerative Diseases: Reviewer.

Other Activities

Leads European Society of Human Genetics' work on regulation of IVDs for genetic testing



Hogarth, S. and Barton, D. and Melzer, D. (2010) The European IVD directive and genetic testing. : Springer Netherlands. [DOI] [Details]

Book Chapters

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

Peer Reviewed Journals

Barton DE, Claustres M;Kozich V;Dequeker E;Fowler B;Hehir-Kwa JY;Miller K;Oosterwijk C;Peterlin B;van Ravenswaaij-Arts C;Zimmermann U;Zuffardi O;Hastings RJ (2015) 'Reply to Sajantila and Budowle'. European Journal of Human Genetics, . [DOI] [Details]
Stuart HM, Roberts NA;Hilton EN;McKenzie EA;Daly SB;Hadfield KD;Rahal JS;Gardiner NJ;Tanley SW;Lewis MA;Sites E;Angle B;Alves C;Louren¿¿o T;Rodrigues M;Calado A;Amado M;Guerreiro N;Serras I;Beetz C;Varga RE;Silay MS;Darlow JM;Dobson MG;Barton DE;Hunziker M;Puri P;Feather SA;Goodship JA;Goodship TH;Lambert HJ;Cordell HJ; ;Saggar A;Kinali M; ;Lorenz C;Moeller K;Schaefer F;Bayazit AK;Weber S;Newman WG;Woolf AS (2015) 'Urinary tract effects of HPSE2 mutations'. Journal of the American Society of Nephrology : JASN, 26 (4):797-804. [DOI] [Details]
Claustres M, Ko¿¿ich V;Dequeker E;Fowler B;Hehir-Kwa JY;Miller K;Oosterwijk C;Peterlin B;van Ravenswaaij-Arts C;Zimmermann U;Zuffardi O;Hastings RJ;Barton DE; (2014) 'Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)'. European Journal of Human Genetics, 22 (2):160-170. [DOI] [Details]
Dobson MG, Darlow JM;Hunziker M;Green AJ;Barton DE;Puri P (2013) 'Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux'. Kidney International, 84 (2):327-337. [DOI] [Details]
Farrell MP, Hughes DJ;Berry IR;Gallagher DJ;Glogowski EA;Payne SJ;Kennedy MJ;Clarke RM;White SA;Muldoon CB;Macdonald F;Rehal P;Crompton D;Roring S;Duke ST;McDevitt T;Barton DE;Hodgson SV;Green AJ;Daly PA (2012) 'Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome'. Familial Cancer, 11 (3):509-518. [DOI] [Details]
Puri P, Gosemann JH;Darlow J;Barton DE (2011) 'Genetics of vesicoureteral reflux'. Nature Reviews Urology, 8 (10):539-552. [DOI] [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]
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]

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]
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]
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]
McDevitt, T., O'hIci, B., Cody, N., Adams, M., Miller, N., Ormiston, W., Berkeley, E., Nolan, C., Clarke, R., Daly, P.A., McDermott, E., Carney, D.E., Green, A.J. Barton, D.E.; (2005) Incidence of BRCA1 and BRCA2 Mutations in Irish Breast Cancer Families Irish Society for Human Genetics , 19-SEP-05 - 19-SEP-05 [Details]
Lalor, S., Gallagher, L., Kearney, G., Fitzgerald, M., Barton, D.E., Green, A.J., Gill, M. Ennis, S.; (2005) Mutation screening of a break-point candidate gene for autism, UBE2E3, on chromosome 2q31.3 Irish Society for Human Genetics , 19-SEP-05 - 19-SEP-05 [Details]
Roring, S., McQuaid, S., Grehan, D., O'Brien, J., McDermott, M., Barton D. Green, A.; (2005) The Complexity of Hereditary Non-Polyposis Colon Cancer (HNPCC) Diagnosis in the Irish Population Irish Society for Human Genetics , 19-SEP-05 - 19-SEP-05 [Details]


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,, 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 was 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
Health Research Board 

FP7 EuroGentest2
FP6 EuroGentest, SNiP2CHIP

Research Projects

Sponsor : EC Framework (FP7)
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


Internal Collaborators

Prof Prem Puri, UCD/NCRC

External Collaborators

Prof Heather J Cordell, Newcastle University, UK
Prof Judith A Goodship, Newcastle University, UK
Prof Indra R Gupta, McGill University, Canada
Dr Simone Sanna-Cherchi, Columbia University Medical Center, New York, USA
Dr Anne Parle-McDermott, Dublin City University
Dr Stuart Hogarth, Cambridge University, UK
Dr Fergus Ryan, DIT