Matt Keon is the co-founder of emerging Australian company GenieUS and says its genesis was a discussion with now director Peter Schutzinger.
The GenieUS model involves the use of a model that aims to create integrated molecular maps of each individual patient.
"We started four years ago basically because after I was introduced to Peter. He lives with motor neuron disease, and we had a long conversation about how he had tried everything. He had been around the world, tried lots of therapies, but nothing had worked. He asked if I would mind looking at it to see if there were any stones left unturned," said Mr Keon.
"We started very small. I just tried to speak to as many neurologists and patients as possible. Another patient actually ended up joining the company. His name is Duncan Bull. We decided not to repeat all the great work that had been done before, but we thought there was a gap."
Mr Keon said the focus has been on the link between the clinicians and the patient.
"We have been trying to look at the very personal and detailed molecular level. These neurodegenerative conditions are not one disease so we are focussed on the very specific level of the individual patient. We can do that with technology and not really many people are looking at multi-integrated genomic analysis in neurodegenerative disease right now."
He said the advantage is gaining a more precise molecular map of what actually might be occurring at the patient level.
"This is both as drivers of the disease or potential correlations of what is happening with the disease. The aim is to identify new biomarkers or new insights in terms of targets that can be acted upon in the very near future.
"We do not want to over-promise on what genomics can deliver because it remains a big unknown. Everyone is working through that and there is no doubt that just this work is very useful because it can give us information that we just have not known. As this work is done, we can start to assemble molecular maps of different sub-types of each neurodegenerative disease."
Mr Keon said the company has spent its early years in an R&D phase. "We are just coming out of that. Our aim is to button-down and prove the model in motor neuron disease over the next two years. We will be working with the same cohort over that time, with clinicians, both here and in the US. Then hopefully in the future, a diagnostic platform that neurologists can access and help them to make better clinical decisions.
"The ultimate commercial pathway is a diagnostic platform that delivers new insights and biomarkers. There is a high need for prognostic markers and the only way we are going to find them is through this type of analysis."
He said many neurologists believe R&D is "close to crossing a threshold" because of better access to good-quality data that helps with the identification of new targets and biomarkers.
"For us in 2021, we hope to establish and build on our molecular platform for motor neuron disease. If we can prove it on that, then we want to start to take on something like Parkinson's disease. There is a lot of great data for Parkinson's and we can run that through our platform.
"Another part of the plan is to aggressively pursue biomarkers. It is such a huge unmet need for clinicians and pharmaceutical companies in motor neuron disease. And again, if we can prove we can find reliable biomarkers through this process on motor neuron disease, then we can do that for Parkinson's and Alzheimer's."
Mr Keon added, "In the end, the more people involved in this, the better, and like others, I really believe we are close to crossing that threshold."