Gene Discovery And Pathobiology In Muscle Diseases
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
I aim to find the genetic causes of muscle diseases that are lethal or severely debilitating. These diseases result in a significant burden to the affected individuals and their families and also on Australia’s Health care system. A genetic diagnosis provides families with answers, allows family planning, such that couples do not have another affected child, enables appropriate clinical management and gives researchers evidence as to how to develop treatments.
Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.
Nigel G Laing, NH&MRC Principal Research Fellowship: Neurogenetics – Gene Discovery, Pathobiology, Novel Therapeutics, Novel Diagnostics And Translation.
Funder
National Health and Medical Research Council
Funding Amount
$880,454.00
Summary
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.