The Scott Sullivan fellowship has provided me with a remarkable opportunity to develop a translational research program specifically dedicated to understanding the molecular aspects of Motor Neuron Disease (MND). By analysing human blood samples and existing human data, it is helping us better understand what causes/contributes to MND and how we can sensitively track these processes. Collaborating with the Sporadic ALS Australia - Systems Genomics Consortium (SALSA-SGC) - we have accessed an incredible national resource with clinical, biological and lifestyle data to carry out our studies effectively in the necessary large sample sizes required.
Our research has unveiled intriguing findings regarding cell-free DNA fragments in the blood, which we found are elevated in individuals with MND. Cell-free DNA is released when cells die. Fragments from individuals with MND carry distinctive marks suggesting a common cellular origin. This discovery holds promise for developing a simple blood test to aid in diagnosis and monitoring, supported by a new grant from the US Department of Defence. The technology is already used widely in prenatal testing and together with our co-investigators at the University of California we are excited to see where this can go.
Dr Fleur Garton in her lab
There are other valuable sources of information. In our quest to leave no stone unturned, we're exploring aspects downstream of DNA, which is also influenced by the environment. Leveraging advanced technologies, we can analyse hundreds of proteins and thousands of RNA isoforms, providing a comprehensive understanding of the disease. Integrating this wealth of information with genetic data will help identify disease-contributing regions of the genome, narrowing down potential targets for intervention.
Evidence from therapeutic pipelines in other diseases underscores the importance of this approach. Drugs that have human genetic evidence are more likely to gain therapeutic approval, even if that genetic evidence only demonstrates a very small risk effect. This translational approach to research is something we are really striving for, to ensure these outcomes are felt sooner by those affected by MND.
We would like to extend our gratitude to all those who have so generously contributed to MND research – individuals with MND, their families, and all those involved in making SALSA-SGC possible. The information it has generated is critical and provides significant information to support many researchers and research questions. Thank you to MND and Me and MNDRA for creating and supporting the Scott Sullivan fellowship and MNDRA, MND and Me, FightMND for the on-going project support.
How can you get involved in our research and find out more?
The national collection, SALSA-SGC, exists at multiple centres in Australia (listed below). Regional recruitment also exists to ensure coverage Australia-wide.
We rely on volunteers and any commitment is always very much appreciated. This applies to those affected by MND but also without MND (please bring a friend)!
Providing a blood sample, clinical information and lifestyle information allows us to generate a large amount of data that we analyse and share. It includes genetic testing and something that is discussed during consent. Being involved means you have direct ability to share your experience and ask questions.
Please reach out to our research team online or phone/text 0428 070 015 for more information.
By Dr Fleur Garton, recipient of the 2022 Scott Sullivan MND Research Fellowship
