[Image source: University of Wollongong]
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Before his uncle's diagnosis, Dr Justin Yerbury had never heard of motor neurone disease. He's since lost a number of close family members to the disease and is now leading a research team who are working on a treatment.
I first heard about motor neurone disease (MND) was when my uncle was diagnosed in 1994.
At that stage, no-one in the family had heard about the disease. And we had no idea how much it would affect us all. I had no idea it would be the beginning of a journey that would inspire and compel me to become a scientist spearheading a team of dedicated MND researchers.
MND is a terrible disease that results invariably in death and you could not design a more debilitating and dignity-stripping disease.
What is MND?
It's a disease that stops the neurons in your brain connecting to the muscles, resulting in a loss of muscle function, muscle wasting and progressive paralysis.
There is no cure for MND, no effective treatment and people who are diagnosed with the disease, are progressively unable to move, speak, breathe and swallow – eventually they are totally debilitated and usually pass away 27 months later.
Every day in Australia, two people die from MND and two more are diagnosed with the disease.
The disease affects men and women equally. It usually begins in mid to late adult life and gets more common with age, although more people appear to be developing MND in early adult life.
There's sometimes a genetic factor involved: in about 10 per cent of cases it runs in families, usually transmitted as a dominant trait. In about one in five of these familial cases, there's a mutation in the gene which codes for the enzyme superoxide dismutase on chromosome 21.
For more information see our Motor Neurone Disease fact file.
My uncle was your average, pretty fit 43-year-old when he noticed a weakness in his shoulder. He'd had trouble swinging his golf club, something he would do on a regular basis. He went to the doctor and was diagnosed with MND and told there was nothing he could do. Within a year, he had lost the ability to talk, swallow and soon passed away from the disease.
At the time of my uncle's diagnosis, I was helping to run the family business and had no background in science. So when I tried to find out more about this disease, I found it difficult to understand any of the literature but I had plenty of questions.
A friend suggested I take a first year university class in biology so I could understand more of what was written in the medical journals. During undergraduate classes I learned that the disease itself has been around for 140 years, but still little was known about what caused MND and because of this there was still no effective treatment.
This sparked my curiosity and inspired me to become a researcher to help find a treatment that could potentially work to reduce the suffering of those with MND and their families. That first class was 15 years ago and I haven't left university, but now I am now teaching the next generation of students.
Over the past decade, more members of my family have tragically passed away from the disease – including my grandmother, mother and sister. Despite MND being a disease that usually targets older Australians, my sister Sarah was only in her 20s when she was diagnosed. She passed away 12 months later, leaving behind two young children.
I have since discovered that a number of generations, going back to as far as the 1920s, appear to have had the disease. Prior to my uncle's diagnosis my relatives' diagnoses had not been recognised as one disease (also the closest diagnosis to my uncle was 20 years prior).
I now work at the University of Wollongong an am part of an international community of researchers trying to find a treatment for MND and I'm trying to encourage people to become more aware of the disease.
Most recently I have been part of a three-way collaboration between health and medical researchers in Wollongong, Melbourne and Canada that has resulted in a breakthrough on the cause and spread of MND. The results represent another step forward in finding a target for much-needed treatments.
Our research focuses in on the fact that symptoms of MND are progressive and seem to move in an ordered way from region to region in the brain and spinal cord. MND is like a fire starting in one neuron and then spreading from cell to cell. We have uncovered the 'fire', a spark that can be passed from cell to cell – we just need to find something to stop this fire. Although MND is not an infection we imagine this to be similar to existing HIV drugs, which don't kill the virus, but stop it going into the next round of cells.
After more than a century, we are only now just starting to understand the way MND affects the body and how it targets cells. I'm proud to be taking the lead to ask more questions, find more answers and to encourage more people to be aware of the disease. Hopefully from this, we will be on the path to find an answer for a disease which still remains incurable.
Published 09/05/2014
