Investigating novel molecular mechanisms in motor neuron disease.

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Summary

This project will use molecular and cell biology approaches to investigate known and novel motor neuron disease genes and the functional consequences of disease causing mutations.

Supervisor(s)

Professor Garth Nicholson

Research Location

Concord - ANZAC Research Institute

Program Type

Masters/PHD

Synopsis

The motor neurons are nerves that extend from the brain to the muscles and provide the stimulus through which we move, breathe, eat and drink. Motor neuron disease (MND) is a neurodegenerative disease that causes the selective progressive death of motor neurons. The main feature of MND is muscle weakness that gradually becomes worse. About 7 in 10 people with MND die within 3-5 years of the onset of symptoms. The cause of death is usually respiratory failure, combined with pneumonia when the muscles used to breathe become very weak. The biological basis of MND is poorly understood. The only known causes of MND are mutations in particular genes that lead to death of motor neurons. We have access to large cohorts of familial and sporadic MND cases. Among these cases, we have identified novel mutations in known and new functional candidate genes. The aim of this project will be to investigate known and new MND genes and the functional consequences of disease causing mutations. Molecular and cell biology approaches will be used to generate and investigate cell culture models and the mechanisms and pathways that lead to motor neuron death. Molecular genetics will also be employed to examine the role of these genes among MND cohorts. We collaborate with other research groups in Australia and the UK.

Additional Information

A wide variety of techniques will be used in this project including but not limited to:

  • Molecular biology/genetics
    • DNA sequencing and genotyping
    • DNA cloning including generation of expression constructs for MND genes
  • Cell biology
    • Cell/tissue culture of patient and other mammalian cell lines
    • Transfection
    • Western blot
    • Immunostaining and immunohistochemistry
    • Subcellular fractionation Microscopy including confocal microscopy

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Keywords

motor neuron disease, Genes, Genetics, Neuroscience

Opportunity ID

The opportunity ID for this research opportunity is: 254

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