Motor Neuron Disease Research Laboratory
Head of laboratory:
The aim of the Motor Neuron Disease Research Group is to find the cause of sporadic motor neuron disease, a disease that kills one Australian every day. Motor Neuron Disease (MND) causes progressive muscle weakness in adults, and leads to death about three years after diagnosis. No effective treatment is available. In 90% of cases MND affects only one member of a family. We are investigating a number of possible causes of MND, and have set up Australia-wide human DNA and tissue banks to investigate this disease.
Major hypotheses we are investigating are:
- Gene-environment interactions as a cause of MND. We are undertaking case-control association studies to see if changes in a number of candidate genes could underlie MND.
- Somatic mutations as a cause of MND. Gene mutations may occur only in the brain and be missed on blood DNA samples. We are dissecting out motor nerve cells from human donated brains and looking for mutations in a number of candidate genes, as well as looking for gene changes using gene chips. If a novel genetic mechanism does underlie sporadic MND it may be amenable to either gene replacement or to gene down-regulation with interfering RNAs.
