Who are you and what's your role?
I'm Dr Natalie Twine, Team leader of Genome Insights in the Transformational Bioinformatics group at CSIRO.
What's your current research focus?
My research focuses on using computers to understanding how genetics influences our lives, especially our disease risks.
Can you tell us a bit more detail about your research ?
Sure! I run a team who focus on developing population-scale genomics software platforms. As more and more genomic data is being generated, current gold-standard tools are becoming unfeasible for such large data volumes. We address this problem in the tools we build, taking advantage of cloud computing and machine learning technology.
How will this impact society?
One of my main collaborative projects focuses on identifying novel genetic causes of Amyotrophic Lateral Sclerosis (ALS - also called Motor Neurone Disease). Together with Macquarie University we are members of the ProjectMinE consortium - through which we have access to 15,000 ALS genomes. Using our technology, such as VariantSpark and TRIBES, we have identified novel disease genes [here], as well as novel relatives [here]. This will greatly benefit ALS patients by helping to generate novel therapeutic strategies.
What drew you to science?
I have loved biology and science ever since I was a young child. I remember my parents buying me a toy microscope for Christmas one year, and I was hooked from then on! Biology and how life works fascinates me, as there is always more to discover and understand. After studying molecular biology at undergraduate level I moved into bioinformatics for Master's and PhD, as data sizes were growing and it was more exciting to be analysing data rather than repeating failed lab experiments!
What's your favourite part of research?
The 1% of the time where you make the really exciting discovery. 99% of the time you are doing the preliminary work that is building up to that discovery. But it is still worth it!
What can you do better than anyone else in the team?
Talk! I am the only extrovert in a group of introverts, so I have to remember reign in my chatty tendencies!
What would you rather fight 1 horse-sized duck or 100 duck-sized horses? Why?
100 duck-sized horses. Simply because they would be way cuter.
Which achievement are you most proud of from 2019?
I'd have to say - seeing our genomic variant platform, VariantSpark, launched on Amazon Web Services Marketplace. We are the first public sector organisation in the world to sell a health product on AWS, targeting researchers in conditions like diabetes and Alzheimer's. This was also written about in the Australian Financial Review.