Crohn’s disease (CD) and ulcerative colitis (UC) are the major forms of inflammatory bowel disease (IBD) in developed nations such as Australia. It is common for a patient’s symptoms to first appear while they are in their 30s, although these diseases can affect children and older adults. IBD is a chronic illness and the symptoms, including diarrhoea, rectal bleeding, and abdominal pain, have a significant impact on quality of life.
The origin of IBD is not well understood, but the most favoured theory is that a genetically at-risk individual encounters a single or series of environmental triggers that lead to disease. Discovery of the first susceptibility gene for CD (called NOD2) and its proposed role in the body, support this hypothesis. The Gut Health Group is currently investigating several other genes for links to IBD.
Both CD and UC are characterised by a series of relapses and remissions. There is limited understanding of the clinical, environmental and genetic factors that may influence how severe the disease is or how often it recurs. The Gut Health Group is analysing a broad range of factors in a large cohort of IBD patients.
CURRENT RESEARCH
- identification of genes associated with Crohn’s disease and ulcerative colitis
- the role of paneth cells in ileal Crohn’s Disease
- determination of disease-specific gene expression signatures
- incidence and prevalence of inflammatory bowel disease in South-East Queensland
- a research project looking into the causes of inflammatory bowel disease
Staff
- Abigail Marsh, PhD Student (Non-Review)
- Gareth Walker, Affiliate
- Katherine Hanigan, Research Assistant
- Dr Rina Kumar, Research Officer
Internal Collaborators
- Professor Patricia Valery
- Associate Professor Louisa Gordon
- Dr Martha Zakrzewski
- Professor Nick Hayward
- Professor Penelope Webb
- Professor David Whiteman
External Collaborators
- Associate Professor Jane Andrews, Royal Adelaide Hospital
- Associate Professor Peter Bampton, Flinders Medical Centre
- Professor Judy Cho, Yale University
- Dr James Doecke, CSIRO Mathematical and Information Sciences
- Professor Timothy Florin, Mater Medical Research Institute
- Associate Professor Rick Duerr, University of Pittsburgh, USA
- Dr Richard Gearry, University of Otago, New Zealand
- Dr David Hansen, CSIRO Mathematical and Information Sciences
- Dr Flavia Huygens, Queensland University of Technology
- Professor Michael Kamm, St Vincent’s Hospital
- Professor Ian Lawrence, Fremantle Hospital
- Associate Professor Rupert Leong, Concord Hospital
- Associate Professor Peter Lewindon, Royal Children’s Hospital and Health Services
- Associate Professor Michael McGuckin, Mater Medical Research Institute
- Dr Gillian Mahy, Townsville Hospital
- Dr Miles Parkes, Addenbrookes Hospital, UK
- Dr Rebecca Roberts, University of Otago, New Zealand
- Dr Alissa Walsh, St Vincent’s Hospital
- National Health and Medical Research Council
- Royal Brisbane and Women’s Research Foundation
- Smart State Health and Medical Research Fund
- Abbott Australasia
- Crohn’s and Colitis Australia
- Orphan Australia
- Ferring Australia
- Pharmatel-Fresenius-Kabi
We offer a comprehensive screening of Nudix hydrolase 15 (NUDT15) variants which includes the *2,*3,*6 and *9 alleles.
The *3 NUDT15 variant that is strongly associated with thiopurine-related myelosuppression is more commonly found in East Asians and Hispanics. Testing for *3 allele only is also available. Please indicate in the test request form your preferred screen.
| Test Name
NUDT15 genotyping |
Turnaround time
1-3 weeks |
Test method
PCR and Sanger Sequencing |
| Indications of use
To predict potential toxicity to thiopurine drugs (Azathioprine, 6-MP and 6-TG) |
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| Sample required
1 EDTA tube of blood |
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To order the test please download the test request and clinical information sheet from below
Test request form NUDT15 Clinical information
For further enquires please email to guthealth@qimrberghofer.edu.au