Motor neurone disease (MND) is a neurodegenerative disease that causes rapidly progressive muscle weakness. Specifically, the disease affects nerve cells (motor neurons) that control the muscles that enable you to move, speak, breathe and swallow.
MND is also known as Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s disease. Approximately 1400 people in Australia are living with this disease. MND typically affects people in their mid-50s and survival is approximately 2-5 years from the onset of symptoms. Although there is currently no cure for MND, an anti-glutamatergic medication is available and slows the progression of the disease.
We are trying to improve our understanding of what causes the neurons to die by studying patients with MND using novel electrical and magnetic tests. We also in the process of conducting a drug trial in the hope that it slows the progression of this devastating illness.
The aims of this project are to undertake the biological characterisation of this novel neurodegeneration gene. We are also examining a panel of commercially available and clinically relevant agonists and antagonists to modulate key pathways involved in Alzheimer’s disease and other neurodegenerative disorders.
We have looked at the impact of overeating on body weight, cholesterol and insulin levels and relating all of these changes to regions of brain pathology as demonstrated by MRI imaging. We are now extending these studies to investigate patients with motor neurone disease and with Alzheimer’s as well as those at risk of genetic FTD.
The laboratory at the NeuRA are conducting longitudinal studies of the first degree relatives of people with these known mutations who are at risk of developing the disease to find the earliest brain changes. We are also looking for new genes responsible for families with FTD & MND. We hope these genetic studies will open doors to a better understanding of the biology of FTD, and eventually treatment.
How is the processing of emotion impaired in FTD? How does it affect the ability to remember meaningful and important information from one’s life? How does it affect interpersonal relationships? How do these deficits evolve with time? These are some of the questions Professor Hodges and his team are trying to answer in this research project.
Associate Professor Tony Roscioli has joined NeuRA as a Senior Research Scientist and Group Leader in Neurogenomics. He is also a Staff Specialist in Clinical Genetics at Sydney Children’s Hospital and is the leader of the SPHERE Genome Connect clinical academic stream. A/Prof Roscioli leads the NHMRC Centre for Research excellence in Neurocognitive Disorders at NeuRA, which endeavours to […]