Star Scientist of the Month- Dr Helena Viola

“I've seen the effect hypertrophic cardiomyopathy on patients and their families. My main goal is to play a role in developing therapies to help people impacted by this disease.”

22 February 2022

This month’s Star Scientist, Dr Helena Viola, views her research into enlarged heart syndrome as an intricate puzzle that she is determined to solve. The cardiovascular biochemist is working alongside Professor Livia Hool at the Institute’s hub at the University of Western Australia and believes life-saving answers are just around the corner.

You work closely with the Institute’s faculty head Professor Livia Hool in WA on some extraordinary research. Can you tell me a little bit about it?

I’ve worked within Professor Hool’s Cardiovascular Electrophysiology Laboratory (a collaboration with the University of Western Australia and the Institute) since 2005. In this time I have investigated normal heart function as well as why and how things can go wrong. Currently, we are particularly interested in hypertrophic cardiomyopathy (HCM), where the heart muscle becomes enlarged or thickened, making it hard to pump blood around the body. This can cause shortness of breath, chest pain, arrhythmias, and in some cases, sudden cardiac death.

We do know that HCM occurs because of genetic mutations in the heart, which means it is a disease that can run in the family. We also know that it is the most common genetic cardiovascular disorder. It has been approximated that as many as one in every 500 people may carry one of these gene mutations. But the mechanisms of the disease are complex, with different gene mutations causing different pathologies. Our mission is to piece together exactly how HCM develops, and how it can be better identified and treated.

You’ve been working on finding answers for more than a decade – what keeps you motivated on such a long-term quest?

Knowing the work could one day save lives keeps me focused and motivated. So does meeting families affected by HCM. In a laboratory environment, surrounded by data and statistics, you can run the risk of becoming very insulated. Here in the Cardiovascular Electrophysiology laboratory, we host visits to members of the public. This has included patients who are impacted by cardiovascular disease and their families. Meeting these people and hearing their real-life stories about how they are impacted by the diseases we are working on really hits home. Because HCM is a genetic condition, you have no say as to whether you get it or not. It’s hard to see so many young people affected. In fact, HCM is the leading cause of cardiac arrest in young people, including five- to 15-year-olds, and young healthy athletes. So, when you hear on the news that a young, fit person has been running in a marathon or is on the soccer field and they suddenly collapse, often it's because they have one of these genetic mutations.

All of this points me to why I’m here, and why I’m doing what I’m doing. I liken good scientific research to detective work. All the clues are there - it’s a matter of uncovering them and carefully piecing them together. This takes time, but if you persevere and get it right the outcomes are wide-ranging.

How close are you to having answers you’ve been working towards?

It’s getting close! It has been a long journey, but everything we have been doing up until now has helped us hone in on the answers. We are using all of the information we have gathered over the years, including from the initial stages of studying normal cell function and cellular function in disease states, to develop improved therapies for the disease. We have uncovered a mechanism involving a ‘communication breakdown’ in the heart that occurs due to these genetic mutations, that shifts the heart toward a state of increased metabolic activity where it is forced to work harder. Because the heart is a muscle, with increased work it becomes larger, driving it toward HCM. The therapies we are working on are aimed toward restoring this communication breakdown in view of preventing the development of HCM and associated cardiac arrest. This is a preventative approach, but we are also working on optimising treatment regimens to try to reverse already developed HCM.

Currently, patients can be genetically tested to find out if they carry one of these gene mutations. Interestingly, some people who carry these gene mutations may not go on to develop HCM at all. With this, we have now begun looking at additional screening measures, to look for biomarkers of the disease that may indicate early changes in metabolic activity. These biomarkers may help provide additional information regarding the likelihood that individuals will go on to develop HCM.

What made you get into science, and this area of cardiovascular research in particular?

Growing up, my brothers and I were encouraged by our parents to be observant. To consider the people and world around us, and to always ask “why?” rather than just accepting things at face value. I really do believe this helped shape my interest in science from a very early age. This continued through to my undergraduate years where I majored in biochemistry and neuroscience

Although both fascinated me, I chose to pursue an honours degree in biochemistry as I felt this would give me a knowledge base that could be applied to many fields. And then the bubble burst. Honours was a tough year! Not much worked, and my anticipated outcomes just did not match the effort I was putting in. It was frustrating and disheartening, and after completion, I seriously considered leaving research altogether.

Around the same time, Professor Hool had advertised for a research assistant, so I applied and she gave me the job. This changed the course of everything and my love for science blossomed once more. With Professor Hool’s guidance, I started to learn the art of research. This naturally progressed into completing a PhD in cardiovascular research, which was the most enjoyable and fulfilling experience. Since then I have supported my research career with funding from the NHMRC and the Heart Foundation. I recognise now that lessons can be learned from the bumpy patches, including the value of reflection, troubleshooting, and persistence. This is as important in research as it is in life because not everything goes the way that you think it might. Some of our most exciting findings have been uncovered this way!

Like many, my family has been touched by cardiovascular disease. This has only added to my drive to try and find answers. I think the reason I’ve stayed so long at the one place is that Professor Hool and I work so well together, complementing each other in a quest to find answers to improve lives.