Australian Rotary Health

I grew up in the country in a small town called Clarence Town (NSW) and went to High School in Dungog (NSW). Upon the completion of my HSC in 2004, I immediately began my undergraduate career in a Bachelor of Environmental Science and Management in 2005 at the University of Newcastle (NSW). Family commitments saw me transferring to the Australian National University (ACT) where I completed my Bachelor degree in Science, majoring in Genetics and majoring in Ecology and Evolution which I completed in 2007. 

 

I was welcomed into the Australian Federal Police (ACT) as a graduate in their inaugural graduate program at the beginning of 2008 where I did a number of rotations through different portfolios before securing a position in the Biological Criminalistics Department in the Forensics portfolio as a Biological Scientist. 

 

My partner was offered a position in Newcastle (NSW) at the beginning of 2009 which bought me to the Molecular Genetics Department of the Hunter Area Pathology Service as a Technical Officer. I worked here for one year, when I was approached to do my Honours under the supervision of Prof Rodney Scott. During my Honours, I was also employed as a Research Assistant for the Australian Schizophrenia Research Institute by the University of Newcastle. I am very excited about the prospects of my PhD (Medical Genetics) commencing 2011, and the work it will offer me over the next few years.

 

 

Colorectal cancer (CRC) is one of the most common cancers in the world, of which a small proportion of cases arise as a result of an inherited predisposition called Hereditary Non-Polyposis Colorectal Cancer (HNPCC). HNPCC accounts for 2-5% of all colon cancer cases with patients diagnosed with the condition also at risk of developing other epithelial malignancies such as endometrial cancer. 

 

Central to the development of HNPCC, mutations in 4 genes of the mismatch repair (MMR) pathway MLH1, MSH2, MSH6 and PMS2, explain approximately 50% of currently clinically tested HNPCC cases. Patients with identified pathogenic mutations in these genes are specifically described as having Lynch Syndrome (LS). Lifetime risk of developing CRC is approximately 47% in men and 33% in women with LS, while in the general population only 4% will develop CRC.

 

The remaining 50% of clinically tested HNPCC patients do not harbour any germline mutations in known MMR genes despite their clinical diagnosis. Evidence supporting the role of additional DNA MMR genes in the etiology of disease comes from as yet unpublished data accumulated over the past 12 months. 

 

 

This project will use HNPCC MMR mutation negative cases to specifically

 

1)    Screen the DNA mismatch repair genes identified by CNV analysis using Sanger sequencing in 200 patients deemed not to harbour mutations in any of the recognised DNA MMR genes implicated in HNPCC to identify causative variants that could account for familial aggregations of disease.

 

2)    Examine in more detail the expression of miRNA species that control DNA MMR gene expression identified by CNV analysis to ascertain the exact role of these molecules in the etiology of disease.

 

3)    Undertake Next Generation DNA sequencing to determine if there are cryptic or complex gene re-arrangements in the known DNA mismatch repair genes (MSH2, MSH6, MLH1 & PMS2) that could account for those families that do not appear to harbour mutations in these genes