Edging closer to understanding Amyotrophic Lateral Sclerosis (ALS)

A lot has happened since we first introduced you to world-renowned researcher, Professor Justin Yerbury AM, a molecular biologist at the University of Wollongong, who has dedicated his life to solving the puzzle that is Amyotrophic Lateral Sclerosis (ALS) – or Motor Neurone Disease (MND) – as it is known in Australia.

Over the years, research has discovered that motor neurons in both the motor cortex and spinal cord degenerate and die in a progressive manner, which ultimately leads to mortality. ALS can strike without warning and progress rapidly, devastating those in its path. Approximately five to 10 per cent of all cases of ALS are inherited and caused by faulty genes. The remaining 90 per cent of cases are random or sporadic. The underlying cause of these cases is still unknown.

For more than 10 years, the Yerbury Lab has been trying to understand the underlying cause of ALS. In April this year, Professor Yerbury and his colleagues Dr Luke McAlary and Senior Research Assistant, Natalie Farrawell published their research investigations in ‘Trends in Neurosciences’ – a leading neuroscience journal. The article attempts to bring together disparate threads of evidence to present a cohesive framework which unifies the known causes of ALS, and to paint a clearer picture of its pathology.

The team’s investigations have found that the proteome – the entire complement of proteins that is or can be expressed by a cell – of motor neurons is particularly vulnerable to stress and growing evidence suggests that proteome dysfunction is a fundamental process underlying cellular dysfunction and death in ALS.

Testing has shown that the removal of the factor causing proteome stress allows motor neurons to recover, leaving the door open for therapeutic success even when treatment is started late.

Professor Yerbury’s resolute determination to wipe out ALS – the debilitating condition that has claimed so many of his family’s lives, and taken away his own ability to walk, talk and breathe on his own – is unwavering. His relentless pursuit of answers saw him named as a recipient of an Order of Australia Award (AM) on the 2020 Australia Day Honours List earlier this year, for his contribution to ALS/MND research and advocacy.

“The award to me is recognition of the hard work I have put in over the last few years,” he says. He also credits the people around him. “It is also a reflection of the amazing efforts of those that make it possible, like my wife, Rachel, my family and my research team.”

In January 2018, Professor Yerbury underwent a tracheostomy and laryngectomy which extended his life expectancy and enabled him to return to work. He speaks with a computerized voice using a software program which is controlled by eye gaze, and breathes with a permanent, mechanical ventilator.With a reputation as an international leader in ALS/MND research, in December 2019, Professor Yerbury presented his research at the 30th International Symposium in ALS/MND, to a full house. Held in Perth last year, the annual Symposium attracts more than 1,000 delegates from around the world and is the largest medical and scientific conference specific to ALS/MND. The importance of an event like this cannot be understated, as it provides researchers with opportunities to network and view presentations that may spark new ideas or collaboration.

Professor Yerbury was determined to attend, despite not having flown by air since his operation, and the amount of equipment he relies on to survive. With the help of QANTAS, Professor Yerbury, members of his lab team and his family were able to make the trip to Perth. The 4.5 hour flight from Sydney to Perth may seem relatively simple for able-bodied individuals, but it took six months of planning to enable him to take to the skies. In collaboration with QANTAS, his family designed a custom-made hoist to get him on the plane, and reserved three business class seats for medical equipment. For Professor Yerbury, the opportunity to travel, attend and present at the Symposium was an amazing experience.

“I felt like that I was not just alive, but that I was living,” he tweeted out to his almost 2,000 followers after the Symposium.Since reaching out to our alumni and wider community late last year, support has continued to pour in for Professor Yerbury’s research. The 2019 appeal raised more than $125,000 collectively across Australia and the United States, and will have a significant impact as the team increase the level of testing of potential drug therapies, and exploration of possible causes.

“I would like to sincerely thank each and every person who donated. I know by now it sounds clichéd, but we would not be able to do the work we do without the support of the community. The community support has been just as important as an extra person in the lab,” he says.

We were honoured to have Professor Justin Yerbury AM present at our alumni knowledge series last year. If you would like to learn more about this vital research, you can watch the full presentation here.