What is your expertise and experience?
I have a strong interest in gene therapy and its promise to treat or even cure many forms of human disease. I began my research career as a PhD student at the Murdoch Children's Research Institute by investigating different ways to effectively and safely introduce DNA into various human cell types. Following the completion of my PhD, I moved to Wisconsin (USA) for a postdoctoral position with Dr James Thomson acquiring experience with stem cell culture, reprogramming and gene editing. In 2011, I was lead author on a publication that was the first to report gene repair in patient-specific induced pluripotent stem cells. I recently returned to the Murdoch Children's Research Institute for a research fellowship and to continue to develop and apply my expertise in reprogramming and gene editing.
Where do you see opportunity for breakthroughs in Prader-Willi Syndrome?
Pluripotent stem cells can become any of the 220 cell types found in the human body so they offer enormous potential for studying human disease and drug discovery. iPS cells are particularly useful for studying Prader-Willi Syndrome because they can be used to derive the cells that are most affected but not easily accessible (e.g. those in the brain). I believe that one of the most exciting avenues of research is using genetically modified iPS cells in sophisticated "drug screening" assays to identify specific compounds that could be used to treat Prader-Willi Syndrome. People who have Prader-Willi retain at least one copy of the DNA region which is known to be involved in the syndrome, but this "maternal" copy is normally inactivated by epigenetic factors in a process known as genomic imprinting. My research explores the possibility of reactivating this maternal DNA region using therapeutic compounds.
Why are you involved in the Prader-Willi Research Foundation of Australia?
I have always loved being a scientist because of the thrill of discovery and sharing my knowledge with others. I'm excited that the Prader-Willi Research Foundation of Australia brings together passionate and dedicated people who bring a vast wealth of knowledge, resources and expertise to the table. What's more, we all share the same fundamental goal, to better the lives of people living with Prader-Willi Syndrome. I'm excited to think that my research could benefit the lives of children living with this syndrome.