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Ms Julienne O’Rourke

PhD Scholarship (Clinical)

Researcher:          Ms Julienne O’Rourke
Institute:                St Vincent’s Institute of Medical Research
Project title:           Investigating the molecular basis of Fanconi Anaemia,
         a leukaemia predisposition syndrome
Disease focus:      Related blood disorders
Annual Funding:   $40,000
Funding period:   2014-2017

Project summary

The rare and inherited syndrome, Fanconi Anaemia, is the focus of Julienne O’Rourke’s PhD studies.

Fanconi Anaemia is associated with a failure in DNA repair and a 700-fold risk of acute myeloid leukaemia (AML). In a sub-type of the disease, patients’ cells fail to produce the protein, FANCM. Julienne is extending our understanding of FANCM, which is already known to be important for recognising and initiating the repair of damaged DNA.

Julienne’s supervisor, Dr Andrew Deans and his team at St Vincent’s Institute of Medical Research, have shown that FANCM interacts in a complex of four other genes to suppress leukaemia onset.

“I’m exploring the biochemical mechanisms by which FANCM stimulates the DNA repair pathway to rid the body of potential cancer-causing mutations in cells,” said Julienne.

“By understanding how FANCM works in healthy cells as well as how mutations to FANCMcan lead to leukaemia, we will be in a better position to develop treatments for Fanconi Anaemia and other cancers.

“It’s an exciting project because I’ve already been able to inhibit an essential function of the FANCM protein, and this appears to increase the effectiveness of chemotherapy in killing tumour cells.”

Julienne is characterising the structure of FANCM containing complexes. Her project is one of the first to initiate research into the biochemical and enzymatic function of gene products involved in the Fanconi Anaemia pathway for the prevention of leukaemia.