Honorary Research Lecturer
Centre for Systems Medicine
4th Floor York House
Dr David Hughes joined the group in October 2011. His current research focuses on cancer genetic, nutritional, and microbial epidemiology and genetic biomarkers for colorectal cancer (CRC). He received his B.Sc. Biochemistry degree from the University of Leeds. Afterwards, his first research post in 1991-1992 was as a research assistant to Prof John Hardy at St Mary’s Medical School, Imperial College London (genetics of Alzheimer Disease). During this time, the group confirmed that mutations in the amyloid precursor protein gene (APP) gene can cause AD, the first gene linked with this disorder. He then did his PhD in Medical Genetics at Queen’s University Belfast. His thesis work involved mutation characterization and haplotype analysis of the CFTR gene, variants of which may cause cystic fibrosis (CF). Dr Hughes’s first postdoctoral positions involved a short fellowship studying atypical cases of CF at the Institute for Human Genetics in Hanover Medical School, Germany and then a two-year post (1998-2000) to begin functional genomic projects on the model nematode, C. Elegans as part of the post-sequencing efforts of the C. Elegans genome in the group of Prof John Sulston at the Sanger Institute, Cambridge, England. From 2000-2006 he was employed as a scientist at the World Health Organization’s cancer research headquarters (the International Agency for Research on Cancer in Lyon, France). His work there primarily concerned the genetic epidemiology of breast cancer (BC). As part of this work, the first confirmed genetic modifiers of the BRCA genes and BC susceptibility in general were located. Dr Hughes returned to Ireland in 2007 where he worked as a research fellow at Trinity College Dublin (Department of Clinical Medicine) until his move to the RCSI. He was instrumental is setting up the CRC genetic research projects at the AMNCH Trinity site. Please click on Research and Publications for a description of current research topics and then a list of published articles.
Upcoming Seminars and Conference Presentations
• ISCA China Biomedical Workshop presentation at GMU, China on Selenium and Colorectal cancer; 18-19 March 2015.
• M.P. Farrell, D. J. Hughes, H. M van der Klift, D.J. Gallagher. Back to the future – Limitations of next generational screening strategies for Lynch syndrome. International Society for Gastrointestinal Hereditary Tumours 6th Biennial Meeting, Sao Paulo, June 18th June 20th 2015. Abstract to be published in Fam Cancer
• M.P. Farrell, D. J. Hughes, O. M. Sheils, I. M. Frayling, D.J. Gallagher. Homozygous PMS2 c.137G>T (p.SER46ILe) mutation causing constitutional mismatch repair deficiency (CMMR-D): extending the CMMR-D phenotype. International Society for Gastrointestinal Hereditary Tumours 6th Biennial Meeting, Sao Paulo, June 18th June 20th 2015. Abstract to be published in Fam Cancer
Recent Seminars and Conference Presentations
• Association of selenium status and selenoprotein gene variation with colorectal cancer risk. Hughes DJ (oral presentation speaker), Fedirko V, Méplan C, Schomburg L, Freisling H, Riboli E, Hesketh J, Jenab M (on behalf of EPIC Group). III ICN International Nutrition Meeting, Las Palmas de Gran Canaria, Spain, November 9-12 2014.
• Integrity in Scientific Publications. Hughes DJ. RCSI Post-Graduate Student’s Union & School of Postgraduate Studies Integrity in Science Forum. Thursday June 26th 2014.
• The influence of blood selenium status and selenoprotein gene variation on colorectal cancer risk. Hughes DJ (Oral presentation speaker), Fedirko V, Méplan C, Schomburg L, Hesketh J, Jenab M (on behalf of EPIC Group). 20th ICN International Nutrition Meeting, Granada, Spain, September 15-20 2013. (Ann Nutr Metab, 63(suppl1) 2013, abstr O135).
• Investigating Parent of Origin Effects (POE) and Anticipation in Irish Lynch syndrome kindreds. Farrell MP, Hughes DJ, Schmid J, Boonstra PS, Mukherjee B, Walshe M, Mac Mathuna MP, Gallagher DJ. International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 5th Biennial meeting, Cairns, Queensland, Australia 28th – 31st August 2013 (Familial Cancer 12, Supp 2 2013; abstr CLN021).
• Genomic sequencing of cancer: How do we distinguish driver from bystander mutations? Hughes DJ (Lecture) Wednesday July 24th. Summer Course 2013 George Mason University / Dublin City University / RCSI Beaumont; BIOL 575: Bench to Bedside Translational Research.
• Micronutrients, microbes and colorectal cancer risk. Hughes DJ (Invited speaker) Seminar series, International Agency for Research on Cancer, Lyon, France, June 18th 2013.
• Investigating parent of origin effects and anticipation in Irish lynch syndrome kindreds. Farrell MP, Hughes DJ, Schmid J, Boonstra PS, Mukherjee B, Walshe M, Mac Mathuna MP, Gallagher DJ. 2013 ASCO Annual Meeting, Chicago, USA May 31 – June 4, 2013 (J Clin Oncol 31, 2013 suppl; abstr 1542).
• Selenium Status Biomarkers and CRC risk in the European Prospective Investigation of Cancer and Nutrition Cohort. Hughes DJ (invited speaker) Seminar series, Institute of Experimental Medicine, Academy of Sciences of Czech Republic, Prague, February 27th 2013.
• Irish Health Research Board – (Prinicpal Investigator, PI) ‘The influence of interactions between selenium supply biomarkers and genetic variation and gene expression in the selenium pathway on CRC risk and survival’ €329,987, October 2013-January 2016. HRA-POR-2013-397
• Irish Health Research Board – (Co-Applicant) ‘Pharmacological inhibition of the paracrine, cell proliferative function of caspase-3 for the treatment of colorectal cancer’ €287,315, October 2012-September 2015
• Irish Health Research Board – (PI) ‘Colorectal Cancer Risk: The Influence of Selenoprotein Gene Variants and Blood Selenium Status’ €299,985, October 2011-September 2013. HRA_PHS/2011/3
• Member of Colorectal cancer project steering committee for the European Prospective Investigation of Cancer and Nutrition (EPIC) study
• Co-Chair of recruitment gap analysis work-group for the RCSI HR strategy for excellence in research (HRS4R)
• Member of working Group for scientist / clinician collaboration at RCSI
• Member of P.I. forum at RCSI
• Member of All-Ireland Cooperative Oncology Research Group (ICORG) – a translational oncology research group
• Former member of the Breast Cancer Association Consortium (BCAC) and the Modifiers of BRCA1/2 Breast Cancer Consortium (CIMBA)