grant

Nigel G Laing, NH&MRC Principal Research Fellowship: neurogenetics – gene discovery, pathobiology, novel therapeutics, novel diagnostics and translation. [ 2011 - 2016 ]


Funded by National Health and Medical Research Council
Managed by The University of Western Australia
Managed by University of Western Australia
Provided by   National Health and Medical Research Council

Research Grant

[Cite as http://purl.org/au-research/grants/nhmrc/1002147]

Researchers: Prof Nigel Laing (Principal investigator)

Brief description My Fellowship will expand my work identifying diseases genes for genetic muscle and nerve diseases by using new technologies that allow discovery of human disease genes which could not be found before. In addition, since we now have proof from mouse studies that heart actin is a target for therapy for the group of diseases that we discovered caused by mutations in the muscle actin protein, we shall take further steps towards making this therapy a reality for patients.

Funding Amount $AUD 880,454.83

Funding Scheme Research Fellowships

Notes Research Fellowship

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Related Publications

  • Associated with Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
    handle : 2440/99579
  • Associated with Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
    handle : 2440/95510
  • Associated with Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function
    URI : arrow.monash.edu.au/hdl/1959.1/1221287

Related Organisations

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Subjects
Biological Sciences | Genetics | Neurogenetics | gene discovery | molecular diagnosis | muscle disease | myopathy | neurological disorders | newborn screening | pathophysiology | prenatal diagnosis | therapy |
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