2012 Young Investigator Award
09 Oct 2012
2012 Young Investigator Award
The Young Investigator Award (YIA) recognises excellence in science and science communication in South Australia’s young researchers in the area of women’s and children’s health research.
Congratulations Natasha McInnes - 2012 winner of YIA & People’s Choice too!
University Department of Paediatrics
The University of Adelaide
Molecular Immunology Laboratory
Women’s and Children’s Hospital
Investigating the role of FOXP3 gene in breast cells
Breast cancer is the leading cause of cancer-related death for Australian women, with 1 in 9 women affected in their lifetime. Breast cancer arises from a build up of gene mutations, and most deaths are due to the spread of cancer from the breast to other organs, which is known as metastasis. Current therapies are not perfect, have harmful side effects and in many cases the disease can come back. For this reason, a better understanding of how breast cancer develops is required, so we can produce safer, more effective therapies.
I have been investigating the role of a gene called FOXP3 in breast cells. FOXP3 is found in normal breast cells, but is lost in many breast cancers. I have now shown that this gene plays a key role in preventing cells from becoming cancerous, by controlling the expression of tiny gene regulators called microRNAs. In healthy cells, as well as showing that they reduce cell growth and multiplication, I have demonstrated that FOXP3 and microRNAs work together to block a cancer gene called SATB1. SATB1 is expressed at very high levels in late stage cancers that spread, and is a predictor of very poor survival.
My results show that FOXP3 and microRNAs work together to keep breast cells healthy, and I have uncovered for the first time a mechanism by which they can turn off the cancer gene SATB1. By finding a way to turn FOXP3 back on, we hope to develop a new therapy for breast cancer.
Congratulations also to the other 2 YIA finalists:-
Michael O'Callaghan PhD
Postdoctoral Research Fellow
The Robinson Institute
Discipline of Obstetrics and Gynaecology
School of Paediatrics and Reproductive Health
The University of Adelaide
Fetal and maternal candidate SNP associations with cerebral palsy: a case control study
Cerebral palsy is the most common physical disability of childhood and there is currently no cure. Cerebral palsy affects over 33,000 individuals in Australia alone with a cost of over $4 billion per annum. Cerebral palsy is more common than all types of childhood cancer combined, yet the research effort in this area, particularly the search for prevention strategies and cures, is significantly less.
We studied common genetic variations as possible causes of cerebral palsy. Mothers and their children were recruited from around Australia to participate in the study. Each mother and child provided a cheek swab sample of DNA and mothers completed a short questionnaire about the pregnancy of their child. Families also gave permission to access extensive clinical data sets. The study was the largest of its type in the world with over 4,300 participants.
Study results suggest that individual genetic variations carried by either mother or child, make a small contribution to cerebral palsy outcome. Common genetic variations appear to be more important when considering cerebral palsy subtypes (e.g. hemiplegia - a type of cerebral palsy that affects one side of the body). In particular, one variation which is involved in blood clotting increases the risk of hemiplegia in children who are born at term to mothers who reported having an infection during their pregnancy.
This new knowledge may underpin cerebral palsy prevention strategies in the future and has lead to new studies investigating different types of genetic variation and their interaction with environmental risks.
Postdoctoral Research Scientist
Molecular Neurogenetics, Genetics and Molecular Pathology
SA Pathology (Women's and Children's Hospita
Congenital hydrocephalus - a new candidate gene
Every four minutes, there is a baby born with excess brain fluid accumulation somewhere in the world. This medical condition is termed congenital hydrocephalus, and if left untreated, can impair brain development and causes brain damage in newborns. Almost half of congenital hydrocephalus cases are passed down within families. However, scientists have found only one gene responsible for this disorder. Discovery of new genes, and an in-depth understanding of how they cause congenital hydrocephalus have long been due. In my PhD study, I have identified a new candidate gene that may be responsible for this disorder.
Using sophisticated techniques, I altered the activity of a gene, SOX3, during development. This led to a build-up of brain fluid in newborn mice. I demonstrated that the normal activity of SOX3 is permissible for neural stem cells (the cell type responsible for brain growth) to form the brain gland that regulates fluid flow. To further understand disease manifestation, I have identified a number of additional molecules that are controlled by SOX3 during brain development. Together, our work provided great insights into the genetic mechanisms of congenital hydrocephalus and strongly supported the use of SOX3 gene for diagnostic screening.
Without a cure for congenital hydrocephalus, surgical insertion of a valve (shunt) that drains excessive fluid remains the most common treatment. However, this practice is lifelong, infection prone and requires multiple surgeries throughout a child’s life. Our findings are expected to inspire new directions on the development of a much-needed novel therapeutic intervention.