Welcome to the labyrinthine world of genetics. Here, a new generation of researchers are unveiling the secrets of some of our most common diseases.
At the forefront is our bioinformatics research scientist Dr Natalie Twine.
The diseases that Natalie and her team study include Alzheimer's and cancer. These conditions have long been enigmas, their complexity overshadowing decades of research. Now, Natalie and her team are developing new and innovative tools to help unravel these genetic Gordian knots.
For most people, the search for patterns in the human genome would be daunting. For Natalie, taking on such a challenge seemed like an inevitability.
Her work promises not just answers, but hope – hope for better diagnoses, more effective treatments, and perhaps, one day, cures.
From childhood passion to ground-breaking discoveries
Growing up in a science-loving household, the influence of Natalie’s family took hold at an early age.
“I grew up with a love of science," Natalie said.
“I had a little microscope and I used to do projects for fun in my spare time. It’s a bit nerdy, isn’t it?”
Natalie’s self-described “nerdiness” is a badge of honour for her, working on ground-breaking research in the fight against genetic disease.
The passion that inspired Natalie to experiment with a microscope has led her around the world – all in pursuit of scientific knowledge and discovery.
The (genetic) task at hand
Natalie is Team Leader of the Genome Insights team at the Australian e-Health Research Centre (AEHRC) where she specialises in population-scale genomics.
Natalie and her team sift through huge genomic datasets to uncover the genetic basis of diseases such as Alzheimer’s.
Unlike single-gene disorders, Alzheimer's and similar diseases involve multiple genes. The interaction of these various genes contributes to the disease's onset and progression, making it difficult to pinpoint a single cause or target for treatment.
“Diseases like diabetes, cardiovascular disease, Alzheimer's, cancer – those that are the most common and prevalent in society – are generally complex. Meaning there are hundreds, if not thousands of genes involved,” Natalie said.
In addition, each person’s unique genetic makeup can influence everything from the likelihood of developing the disease to how one responds to treatments. Cross-referencing thousands of individuals’ complete genomes to look for such patterns manually would be an impossible task for a human. Particularly, for a full-time scientist who delivers international workshops on genome analysis – on top of raising an eight-month-old.
Luckily, Natalie has other strategies.
Building the future of genetic research
Natalie’s team builds cutting-edge tools using cloud computing and machine learning. The team uses artificial intelligence (AI) to sift through colossal amounts of genomic data in search of patterns.
These patterns could include genetic variations and mutations that are common in individuals with a particular disease. Researchers might also consider how one gene could be influenced by the presence or the absence of another gene.
“We use complex computing approaches to speed up and enable testing between hundreds of thousands of genes. As you can imagine it would be quite a laborious task without using supercomputing power,” Natalie said.
Previously, this task has been difficult due to the sheer number of gene combinations.
“It becomes an impossible question. We need a clever computing approach to be able to do it,” she said.
Bioinformatic approaches are opening new avenues of discovery. By using cloud computing and machine learning, new digital products can find patterns within these datasets.
By unravelling the intricate genetic tapestries of these diseases, they are paving the way for early detection, targeted treatments, and a future where healthcare is tailored to the unique genetic blueprint of each individual.
“The growth of technology, and the tools we have at our fingertips are just amazing these days,” Natalie said.
“It's an exciting time to combine the two areas of something that I've always been interested in.”