Focused effort needed in the fight against neurodegenerative disease


Emerging Australian life sciences company GenieUS is currently focused on mapping and sub-categorising neurodegenerative diseases with the goal of understanding the experience of individual patients.

Co-founder and CEO Matt Keon told BiotechDispatch the four-year-old company is using a model to create integrated molecular maps of individual patients.

He said the aim is to identify the underlying causes of neurodegenerative diseases leading to the development of potential targeted therapies.

"That is the ultimate aim. I think that is when you talk about more precision or personalised medicine and the goal of understanding why some people suffer from conditions and disease and others do not. We are all different, genetically different, and our aim is to build an understanding of why that is and what it means."

Mr Keon said one of the current challenges is the lack of data from a substantial genome study in Australia.

"For us, a challenge can be getting access to data because not everyone diagnosed with a neurodegenerative disease gets sequenced. I think the first thing we should be doing is sequencing diagnosed patients so that we can get information early on in the disease. This is a real barrier because it can take a long time for people to be sequenced and part of that is budgets and resources.

"It is quite fragmented both in Australia and around the world. We have been thinking about how we can aggregate the sequencing that has been done and share that amongst researchers. The other thing is that clinicians and patients should be able to access sequencing technology and we are not there yet.

"We need an education campaign around genomics and the benefits of that to the community, Australia in general and the health system.

"It is also an example of one thing the government could support in terms of a study. We could then use the data to accelerate the process of identifying predisposition factors and not just for neurodegenerative diseases. The approach could be used across all sorts of diseases."

The federal government recently announced $46.5 million in funding to support genomics research. The nine projects funded are focused on more rapid diagnosis of genetic disorders.

"The UK has a study based on one hundred thousand genomes. It is a great database across a range of population groups that provides a platform to support research, development and decision-making in health.

"It is especially powerful when we look to the future and think about the ability to treat knowing who will respond and who will not. Think about this in an emergency hospital setting and you can certainly see how wide the application would be if we can get the information early that will lead to better decisions on interventions for patients.

"I think there is no reason why we can not do this for every disease, even if the population numbers or the patient numbers are low, I think there is an intrinsic benefit in aggregating data and information.

"It simply means all our research would have more statistical power, potentially ten-fold, and that is critical. It would mean we would be able to mine for more insights because we would be able to see the variations between the different cohorts of patients.

Mr Keon said developing treatments for neurodegenerative disease might be the "hardest area of research because the brain is so complex" but it is also an area of very high unmet need.

"We have advanced so much, like for instance, we use co-culture models where we can actually do a version of the patient in a dish with their motoneuron, their skeletal muscles and we fuse those together. Also, now there is single-cell technology. So again, we can get autopsy tissue from patients and we can look at the single-cell level, so down to the motor neuron, down to the astrocytes for immune cells down to the microglia, which we could not do even six years ago on a really robust level.

"I think we can take the same attitude as cancer. It seems we are 20 years behind for various reasons and we should have the same, I guess, enthusiasm and attitude and restlessness as cancer had or HIV had."