An Australian university researcher, investigating the relationship between a person’s genes and their propensity for heart disease, has been awarded an $8 million (US$5.8million) fellowship from the Snow Medical Research Foundation.
University of New South Wales (UNSW) researcher, Emily Wong PhD, intends to illuminate the relationship between the ‘dark genome’—regions of a genome that are understood less than the regions that encode proteins—and the development of the body’s heart.
The genome is an organism’s complete set of genetic information and for humans, 98 percent of that information is a part of the dark genome.
“I feel incredibly honoured to be a Snow Medical Fellow. This level of support is transformative. My research vision would not be possible without this level of sustained funding,” said Wong in a UNSW media release on March 2.
“I’m thrilled to be able to expand this research, which has the potential to alter our understanding of heart disease and shine light on the dark genome and its disease-causing variations,” she said. ” I look forward to contributing to world-leading research in this crucial field.”
Wong is mainly investigating how the regions of the dark genome known as enhancers function or malfunction. Enhancers are sequences in the genome, they are responsible for turning genes on and off and they are critical to developing the human body as they determine whether a cell becomes a heart or liver cell. They are also important because a lot of disease-causing variation takes place in the enhancer regions of the genome so understanding how they work is believed to be crucial in comprehending what role they play in heart disease and aging.
Wong said that she would use the fellowship funding to map each individual enhancer involved in the development of the human heart, attempting to discover what variants are causing diseases such as congenital heart disease.
The cause of congenital heart disease is unknown in roughly 80 percent of cases, so comprehending what parts of the dark genome are causing the condition will enable doctors to provide heart disease diagnoses and hopefully new treatments.
Additionally, Wong will use her background as a computational biologist to develop the new technologies that she requires to study the dark genome, establishing new tech that will further the field of disease research. Her study will also investigate the molecular reason why exercise improves heart health, which she believes could develop a new field of healthy aging therapeutics for those that are not able to exercise.
Wong is well equipped for this research project as she is not new to the study of enhancers. Her study of prehistoric sea sponge genomes significantly furthered understandings of genome sequencers as she determined that prehistoric sea slugs, humans, and mice shared similar enhancers, proving that these sequences had been maintained in genomes for over 700 million years.
“At the University of Queensland, we extracted DNA samples from the sea sponge and injected it into a single cell from a zebrafish embryo,” said Wong in a Victor Chang Cardiac Research Institute media release from Nov. 6 2020. “Without harming the zebrafish, we then repeated the process at the Victor Chang Cardiac Research Institute with hundreds of embryos, inserting small DNA samples from humans and mice as well.”
“What we found is despite a lack of similarity between the sponge and humans…, we identified a similar set of genomic instructions that controls gene expression in both organisms. We were blown away by the results!”
Wong’s 2020 discovery is important to the scientific community because enhancers are incredibly difficult to find as they evolve rapidly and can not generally be identified by comparing sequences as can be done with genes.
“Trying to find these regions based on the genome sequence alone is like looking for a light switch in a pitch-black room,” said Wong. “And that’s why, up to this point, there has not been a single example of a DNA sequence enhancer that has been found to be conserved across the animal kingdom.”
Wong’s research provided a better comprehension of enhancers and how the human genome can be read and understood, which helps in understanding human processes that have a genetic basis such as congenital heart disease.
Dean of UNSW Science, Professor Emma Johnston said in the UNSW media release that by providing Wong with the time and security to test her hypotheses, the fellowship will help millions of people suffering from heart disease.
“Dr Wong’s research will shed light on our understanding of the heart and has the potential to transform the diagnosis of heart disease and genetic and epigenetic mechanisms of healthy ageing,” said Johnston. “I applaud her on this significant Fellowship and look forward to witnessing her remarkable research that will lead to new therapies to improve clinical care.”
Professor Jason Kovacic, Executive Director of the Victor Chang Cardiac Research Institute said UNSW media release that the fellowship was a great opportunity for both Wong and the Institute.
“I want to thank the Snow Family and the entire team at Snow Medical for believing in Dr Wong’s work and for providing her with the independence that will allow her to expand her team and to deliver on the potential of her incredibly exciting research,” said Kovacic.
The Snow Medical Research Foundation offers the largest philanthropically funded biomedical research fellowship in Australia. Snow fellowships are funded by the Snow family through Snow Medical, a foundation that has donated $91.1 million since its establishment in 2020.
The Snow Medical Research Foundation fellowship is offered to three researchers who are entitled to receive $1 million every year for eight years. Chairmen, Tom Snow, said in a foundation media release that in addition to funding, the researcher’s host universities have committed outstanding labs, leadership development opportunities and ongoing management.
“This year we were again faced with some of the world’s best emerging scientists working here in Australia,” said Snow. “They have all worked in excellent labs in the UK, the U.S. and the Netherlands, have published in the world’s best journals, and have brought their worldwide expertise to Australia.”
“The Snow Fellowship is designed to back the brightest and best of their generation to take bold risks. We want our researchers to have the guts to fail before they succeed—and we give them eight years to deliver their vision,” he said.