David Hughes

Investigators > David Hughes, please also see Research and Publications

Senior Research Fellow / Honorary Research Lecturer
Centre for Systems Medicine
4th Floor York House
York Street
Dublin 2
Email: davidhughes@rcsi.ie

Please note that due to a lack of a more stable position here offered by the CSM or at the RCSI, I am currently in only a part-time position at the RCSI, through funding by an Irish Health Research Board project grant to me as PI on breast cancer risk and association with selenium status (2016-2019). I have been at the RCSI since 2011 self-funding my position on three successive grants. However no additional institutional career support has been available. Thus, I welcome any contact (davidhughes@rcsi.ie) in regard to possible employment opportunities in research, management, teaching, writing / consultancy elsewhere, especially as I wish to be able to complete this grant which may not be possible in the current situation. I have also previously worked as a consultant / writer for Rarecells, Institut Pasteur, Paris and I completed in 2015 a Postgraduate Diploma in Health Professions Education

Degrees & Diplomas: BSc, PhD, PGDE

Professional Experience
The research of Dr David Hughes focuses on nutritional, genetic and microbial epidemiology of cancers of the colorectum, breast, liver and pancreas. He currently leads large prospective cohort studies of the influence of selenium, zinc, and copper status on colorectal, liver and breast cancer risk (2011-current; e.g. PMIDs 27357089, 25042282; see also http://www.news-medical.net/news/20160822/Low-selenium-levels-linked-to-liver-cancer-risk-An-interview-with-Dr-David-Hughes.aspx (A Thought Leaders Series)). Other recent research highlights among many other published studies include the first study to propose a link between Fusobacterium nucleatum (an oral and gut bacterium) levels and clinical outcome from colorectal cancer (PMID: 24599709), leading the analysis of the implications of the pilot strategy for iFOBT colorectal cancer screening in Ireland (PMID: 23746062), and helping to show that methylation of the TFAP2E gene predicts patient response to chemotherapy (PMID:22216841).

He received his BSc Biochemistry degree from the University of Leeds, England in 1990, his PhD in Medical Genetics from Queen’s University Belfast (QUB) in Northern Ireland in 1996, and a Postgraduate Diploma in Health Professions Education at the RCSI in 2015. Since 2014, he has been a steering committee member for colorectal cancer projects within the EPIC study. Dr Hughes worked as a research fellow at Trinity College Dublin from 2007-2011 where he instigated nutritional epidemiology and biomarker studies in colorectal cancer, including contributing to the first strong evidence that genetic variants in selenoprotein genes increase colorectal cancer risk (PMID: 20378690). 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), where he helped define the first genetic modifiers of the BRCA1 and BRCA2 genes and common susceptibility alleles for breast cancer in adequately powered studies (e.g. PMIDs 1828356, 17999359, 17293864, 17018785). As a postdoctoral fellow, Dr Hughes instigated functional genomic projects on the model nematode, C. elegans following the sequencing of the C. elegans genome (PMID:9851916) at the Sanger Institute, Cambridge, England (1998-2000). His thesis work at QUB (including a subsequent short-term postdoctoral fellowship at the Institute for Human Genetics in Hanover Medical School, Germany) defined the spectrum of CFTR mutations (and pioneered the technique of microsatellite haplotype directed mutation testing for rare CFTR variants) as thereafter used in Cystic Fibrosis screening in Northern Ireland (e.g. PMIDs 11288718, 8956039, 8889582, 7535745). 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, where the group discovered that mutations in the amyloid precursor protein gene (APP) gene can cause Alzheimer’s disease, the first gene linked with this disorder (PMID:1944558).

Please click on Research and Publications for a description of current research topics and then a list of published articles.

Recent Seminars and Conference Presentations
• Association of selenoprotein and selenium pathway genetic variations with colorectal cancer risk and interaction with selenium status. Hughes DJ (oral presentation speaker), Fedirko V, Jones JS, Méplan C, Schomburg L, Hybsier S, Riboli E, Hesketh J, Jenab M (on behalf of EPIC Group). 4th International Conference on Selenium in the Environment and Human Health, Sao Paulo, Brazil, October 18th-21st 2015. In Book: Global Advances in Selenium Research from Theory to Application, pp 53-54 (editors Banuelos GS, Lin ZQ, Moraes MF, Guilherme LRG & dos Reis AR), Taylor & Francis, London, UK
• Association of selenoprotein and selenium pathway gene variation with colorectal cancer risk and modification by selenium status. Hughes DJ, Fedirko V, Jones JS, Méplan C, Schomburg L, Hybsier S, Riboli E, Hesketh J, Jenab M (on behalf of EPIC Group). European Cancer Congress, Vienna, September 25th-29th 2015. Eur J Cancer 2015 supplement
• Homozygous PMS2 c.137G>T (p.Ser46IIe) mutation causing constitutional mismatch repair deficiency (CMMR-D): extending the CMMR-D phenotype. Farrell MP, Hughes DJ, Sheils OM, Frayling IM, Gallagher DJ. International Society for Gastrointestinal Hereditary Tumours 6th Biennial Meeting, Sao Paulo, June 18th-20th 2015. Familial Cancer 2015 May;14:S1-S91.
• Back to the future – limitations of next generation screening strategies for Lynch syndrome. Farrell MP, Hughes DJ, Van Der Klift HM, Gallagher DJ. International Society for Gastrointestinal Hereditary Tumours 6th Biennial Meeting, Sao Paulo, June 18th-20th 2015. Familial Cancer 2015 May;14:S1-S91.
• Fusobacterium nucleatum and colorectal cancer development: cause or consequence? (invited speaker) SFI RBI (Research Brazil Ireland) collaboration visit, São Paulo State University, São José do Rio Preto, Brazil, April 14th 2015.
• Association of selenium status and with colorectal cancer and liver cancer risk. Hughes DJ (invited speaker) Ireland-China SFI-ISCA meeting, Guangzhou Medical University, Guangzhou, China, March 18th 2015.
• 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.

Current Funding
• Irish Health Research Board – (Prinicpal Investigator, PI) ‘Breast cancer risk: The influence of blood selenium status and interactions between selenium supply biomarkers and genetic variations in the selenoprotein gene pathway’ €329,979, 2016-2019. HRA-PHR-2015-1142
• Irish Health Research Board – (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, 2013-2016. HRA-POR-2013-397
• World Cancer Research Fund (Co-applicant) ‘Advanced Glycation End Products: Are exposures associated with colorectal cancer risk and survival?’£249,877, 2016-2020
• World Cancer Research Fund (Co-applicant) ‘Biomarkers of selenium status and risk of advanced prostate cancer’ £218,957, 2016-2019

Recent Funding
• 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
• 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

Positions of Responsibility
• Member of Colorectal cancer project steering committee for the European Prospective Investigation of Cancer and Nutrition (EPIC) study
• Ambassador member for the European Association of Cancer Research (2015-2019)
• Member of the International Society for Selenium Research (from 2015)
• 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)