Inherited Musculoskeletal Disorders: Molecular Genetics, Cellular Mechanisms And Therapies
Funder
National Health and Medical Research Council
Funding Amount
$621,458.00
Summary
My goal is to understand the causes of inherited muscular dystrophies and disorders affecting development of the skeleton. I study muscular dystrophies caused by collagen VI mutations, provide diagnosis for patients and families, and identify how and why the changes cause muscle disease. I am searching for genes that modify muscular dystrophy severity and exploring potential therapies. I discovered a new gene for inherited arthritis and am searching for genes for other skeletal disorders.
Genetic Basis For Skeletal Muscle Formation In Development And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$751,854.00
Summary
Inherited skeletal dystrophies and myopathies are devastating and debilitating disease for which there are no cures and general muscle wasting is major health problem for a significant number of older Australians. Understanding how muscles form, grow and are maintained in model system, the Zebrafish, will provide avenues for treatment of these diseases. We will create models of human muscle diseases in zebrafish and test the usefulness of different therapeutic approaches we develop.
I am a physiologist investigating the molecular basis of normal function in skeletal muscle and the dysfunctions occurring in various muscle diseases and in fatigue. In addition, I investigate analogous dysfunction of calcium release and excitability occu
I am a biochemical geneticist working on inherited disorders that affect the musculoskeletal system. My major focus is determining the molecular basis of muscular dystrophies and bone and cartilage disorders.
The Molecular Mechanisms Of Inherited And Acquired Musculoskeletal Disease
Funder
National Health and Medical Research Council
Funding Amount
$823,008.00
Summary
Diseases of the musculoskeletal system are the second most prevalent medical conditions, and the second leading cause of health care expenditure in Australia. This research program seeks to identify genes causing inherited musculoskeletal disease and osteoarthritis. By identifying these genes, and by understanding the detailed molecular mechanisms of how gene mutations cause these disorders, our research is working towards developing better diagnostic and therapeutic approaches