Motor Neuron Disease Research Laboratory - Honours projects available in 2010
An Honours project undertaken in this lab would be administered by the Discipline of Pathology.
- Brain mutations in Amyotrophic Lateral Sclerosis
Supervisor + contact details:
- Associate Professor Roger Pamphlett
Amyotrophic lateral sclerosis (ALS) causes a progressive loss of motor neurons in adults, and leads to death in about 3 years. One Australian dies of this disease every day. Most cases affect only a single member of a family. The cause is unknown, but one possibility is that ALS is due to a gene defect that is found only in cells of the central nervous system.
To look for these gene defects, you have to examine the brain cells themselves. Cells can be individually sampled from the brain using laser microdissection. You will be laser-dissecting brain neurons and astrocytes, two cell types that are implicated in ALS. The DNA from these cells will be put on 1,000,000 SNP gene chips, and you will then compare genetic differences in these cells across the whole genome. We hope if a genetic cause for ALS can be found that these patients will be able to receive gene therapy in the future.
- Gene copy number in sporadic Amyotrophic Lateral Sclerosis
Supervisor + contact details:
- Dr Bing Yu
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder where there is a progressive loss of motor neurons. It causes death in about 3 years. The familial form of this disease occurs in 10% of cases and is linked to the gene for superoxide dismutase 1. The remaining 90% of cases are sporadic (i.e. they occur only in one member of a family) and the cause of this form of the disease is unknown. Since these two forms of disease are clinically and pathologically indistinguishable, we are investigating genetic mechanisms that might underlie sporadic ALS. Changes in the copy number of chromosomes are involved in several neurological diseases. These changes may preferentially involve the central nervous system. In an attempt to see if copy number changes in the brain could lead to sporadic ALS we are comparing gene copy number across the genome in the brains of ALS patients and control subjects. For this we are using whole-genome scanning with Affymetrix 500K gene chips. Of interest, some regions have shown differences in copy number in ALS patients compared with controls and these regions may play a role in ALS pathogenesis.
In this project, the student will undertake the vital step of confirming these differences in the copy number using quantitative PCR. The work will be undertaken in the Department of Molecular and Clinical Genetics.
