Overview

The Programme for Human Genomics(PHG) aimed to establish Dublin as a Centre of Excellence in human genomic and proteomic research through a collaborative partnership involving the Dublin Molecular Medicine Centre and the Royal College of Surgeons in Ireland.
A tri-institutional collaboration between the Royal College of Surgeons in Ireland (RCSI), Trinity College Dublin (TCD) and University College Dublin (UCD), the PHG represented the largest single investment by the Higher Education Authority under its Programme for Research in Third Level Institutions. This investment has built on the investment made through the DMMC and BSN in Cycle 2 of the PRTLI as well as on other research and infrastructure awards.

PHG Funding is directed towards :-

1. Demonstration Research Projects
2. Core Technology Platforms
3. Hospital-based Clinical Research Facilities
4. Senior Academic Appointments and/or their Research Teams
5. Education & Outreach Activities

One of the fundamental aims of the PHG was the advancement of targetted medicine, converting research into health benefits by making the successful leap from "Bench to Bedside".

Research Projects

Individual research projects funded through the Programme for Human Genomics are in the areas of:

1. Cancer & Malignancy

• Biological Effects of Calcium Hydroxyapetite Crystals
• Inflammation Related Gene Polymorphism in Cancer of the Oesophagus
• Carcinogen-induced Gene Induction in Oesophageal Cells
• Role of Leukocyte Protein A-Plastin in Colon Cancer Metastasis
• Gene Therapy in Prostate Cancer
• Characterisation of the Mutation Spectrum of CDH1
• Roles of Vitamin C in Oesophago-Gastric Cancer

2. Cardiovascular Disease

• Pharmaceogenomics of Atherosclerosis
• Cardiovascular Remodelling in Heart Failure
• Adhesion & Platelet Function (Proteomics of the Platelet)
• Cardiovascular Biology - Signalling in Platelets
• Impact of a Perturbed Cyclooxygenase Pathway
• The Vascular Clock
• Cyclooxygenase Isoforms in Pulmonary Hypertension

3. Host Defence & Immunity

• Genetic Investigations into Coeliac Disease
• Inflammatory Bowel Disease & Genes in the Xenobiootic Response System
• Analysis of Multi-step T-Cell Navigation using Microfluidic Biochips
• T-cell Navigation using a Microfluidics Enabling Platform
• Characeterisation of Helicobacter Pylori Laminin Binding Protein
• Candidate Gene Analysis in Coeliac Disease
• Novel Fatty Acids & Nuclear Hormone Receptors
• Macrophage Apoptosis in TB
• Molecular Immunology of Hepatitis C
• Novel Anitmicrobial Therapeutics for Clostridium Difficile
• A Novel Targetting Mechanism for Steroid Targeting to the Colon

4. Neuropsychiatric Disease

• Pharmacogenomics of Epilepsy

5. Miscellaneous

• Loci for Population Evidence of Natural Selective Effects in Ireland

Technology Cores

Technology cores and resources funded through the Programme for Human Genomics include d:-
Bioinformatics Resource at RCSI
Mass Spectrometry at RCSI
Organic Synthesis Core at RCSI
Transgenic Facility at TCD

Laboratory & Bioresources

The Programme for Human Genomics has created or supported the following clinical bioresource facilities :-

 

1. Biobanking Data Management facilities at RCSI
2. Clinical Research Centre at Beaumont Hospital
3. Genome Resource Unit at Mater Misericordiae University Hospital
4. Genome Resource Unit at St Vincent's University Hospital

Senior Academic Appointments & Research Teams

The Programme for Human Genomics directly supported the following senior academic investigators and/or their research teams :-
Chair of Bioinformatics at UCD
Chair of Genetic Epidemiology (jointly appointed) at UCD
DMMC Bioresources Coordinator
Chair of Molecular Medicine at RCSI
Chair of Physiology at RCSI
In addition to the above senior staff, the Programme has supported 44 Post-graduate students and 49 Post-Doctoral Fellows.

Education & Outreach

Full details of all DMMC Education activities undertaken as part of the PHG are described in the Education pages.
In addition to these activities, PHG-specific actions at RCSI include :-

• MRes/PhD Programme
• Post-Doctoral Training Programm
• RCSI Mini Med School
• Post-Primary Transition Year Programme

PROGRAMME OUTPUTS

The Programme for Human Genomics has been successful in the following key performance areas :-

Improvement in Research Publication Record
Extent of Extra-mural Funding Generated
Generation of Biorepositories of Genotypics & Phenotypic Data
Establishment of Innovative New Technologies
Access to Core Technology Platforms
Significant progress has been made in developing Dublin as a centre for excellent in molecular medicine during the lifetime of the PHG as demonstrated by significant research projects which have led to identification of novel candidate genes in diseases processes including coeliac disease, inflammatory bowel disease, eczema, myeloma, lung and gastric cancer, epilepsy and neuropsychiatric diseases. This research has involved successful cross-institutional collaboration nationally and internationally and has positioned PHG investigators as internationally competitive leading to publications in the peer-reviewed premier journals. This in turn has allowed investigators to leverage significant funding from the Welcome Trust, Science Foundation Ireland, the Health Research Board and the European Union to sustain translational research in these thematic areas into the future. For example, funding has been successfully obtained from the Wellcome Trust to participate in two genome wide association studies which represents the next wave of research in this area. Significant funding has also been secured to establish SFI Strategic Clusters, for example the Irish Drug Delivery Network and the Immunology Research Centre and the IRCSET Bioinformatics and Computational Biomedical Ph.D. programme which involve cross-institutional collaboration along with industry partners and include the core technologies established through this programme.
The investment by the HEA through PRTLI cycle 3 has supported and advanced the establishment of core technologies within the institutions, including the high content screening analysis at TCD, the bioinformatics core at UCD and the organic synthesis core at RCSI which have enabled a number of research programmes during the lifetime of the PHG and will position the research at these centres at the leading edge of international research efforts into the future. Examples of cross-institutional use of core technologies include the collaboration between TCD and UCD for Cardiovascular Pharmacology analysis and the development of new high content analysis protocols. In addition, the generation of a high content analysis facility with micro fluidics and nano-fluidic capability at the Institute of Molecular Medicine (IMM) has provided a resource for all members of Molecular Medicine Ireland. An international course has been developed on high content analysis and an MSc programme in this area.

Funding of the UCD CRCs at the Mater Misericordiae University and St. Vincent’s University Hospitals has provided state of the art facilities for translational research. Since their establishment they have demonstrated their ability to successfully conduct patient focused research in a number of disease areas with a total number of patient contacts of 4,223 in 2007 for the CRC at the Mater Misericordiae University Hospital.

Scientific Leads

Prof. Brian Harvey Ph.D, DSc
Prof. Dermot Kelleher MD, FRCPI, FRCP, F Med Sci
Prof. William G Powderly

Investigators & Researchers

Dr. Daniel Bradley Ph.D
Dr. Gerard Cagney Ph.D
Dr. Paul A Cahill
Prof. Helen Colhoun MB, BCh, BAO, MSc, MFPHM, MD
Prof. David Croke Ph.D
Dr. Norman Delanty Ph.D
Dr. Marc Devocelle Ph.D
Dr. Seamas Donnelly FRCPI, MD, MB, BCh, BAO
Dr. Peter Doran Ph.D.
Ms. Megan Dring
Mr. Denis Finn
Dr. Ruth Foley
Dr. Eilis Foran
Dr. John Gilmer BA, Ph.D
Prof. Jane Grimson
Prof. Desmond Higgins BA PhD
Dr. Marian Humphries M.Sc., PhD.
Prof. Peter Humphries BA, PHD, DSc, MRIA, FTCD
Dr. Joseph Keane MD
Prof. Dermot Kenny
Prof. Mark Lawler
Dr. Geraldine McCarthy Ph.D
Prof. Paul McKeigue Ph.D.
Dr. Ross McManus BA Ph.D
Dr. Joseph McPartlin M.Sc., Ph.D
Dr. Ger Meade
Dr. Niamh Moran
Prof. Cliona O'Farrelly Ph.D
Dr. Mary O'Sullivan Ph.D
Prof. Jochen Prehn
Prof. John Reynolds MCh FRCSI
Dr. Helen Roche Ph.D, FTCD
Dr. Anthony Ryan Ph.D
Prof. Denis Shields
Dr. Paul Spiers Ph.D
Dr. Alice Stanton M.B., B.Sc., MRCPI, Ph.D.
Dr. Achim Treumann
Dr. Yuri Volkov Ph.D
Dr. Mark Watson Ph.D

Lead Institution: Royal College of Surgeons in Ireland