Research Updates

The gene that put Australia on the map for MND research 

In March 1993, SOD1 was the first gene linked to motor neurone disease (MND) with the help of Nigel Laing and a team of Australian researchers in WA. As a student at the time, and now a research professor in the MND field, Anthony Akkari witnessed the impact the discovery made in MND research. 

Anthony remembers Professor Laing investigating the inheritance patterns in a large West Australian family affected by MND and a discussion with Professor Laing about MND: “It was that particular conversation, on that day, that engaged me as a student, curious and driven to research this inherited MND,” said Anthony. “Later that same year, my own father was diagnosed with MND; these two events turned me into both a neuromuscular disease researcher and carer for someone with MND.” 

For Anthony, the history of the SOD1 gene discovery as a cause of MND highlights the strides made in MND research by Australian researchers. “Australia’s MND researchers have always had a view beyond the horizon when working to advance the understanding of MND.” 

Professor Akkari has penned an article on the discovery, to access please click the link below.

The Australian MND Registry : Providing Clinical Data to Fight the Beast

MND is a complex and variable disease, and this can cause challenges in both the lab and the clinic. To better understand the disease, in 2004 a team of clinicians established The Australian MND Registry (AMNDR), a database of clinical data from Australians with MND. One clinician involved in setting up AMNDR was Professor Paul Talman, a neurologist with a specific interest in MND, who talked to us about the registry’s beginnings and how it has changed the MND field.

“The registry began in the late 1990s when fellow neurologist, Associate Professor Susan Mathers and I established a Victorian MND registry based at Calvary Health Care Bethlehem. At that time, we recognised patients presented with different patterns of MND that had very different rates of change and outcomes, and we thought this was important to define as it may help with understanding the disease.”