Dysferlin Coordinates Membrane Repair For Skeletal And Cardiac Injury
Funder
National Health and Medical Research Council
Funding Amount
$459,270.00
Summary
Muscles are damaged all of the time, as we stretch and contract them, but we don't fully understand how they repair themselves. We are studying the molecular steps taken by a muscle cell to repair membrane damage. Our research will provide valuable insights into how to treat muscular dystrophy and other conditions characterised by membrane damage to cells, such as heart attack and stroke.
Control Of Cardiac And Skeletal Contractility By Luminal Calcium Store Load In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$415,138.00
Summary
Disorders affecting skeletal muscle and the heart can have life threatening effects and lead to impaired mobility and sudden cardiac death. This project will uncover the mechanisms of disorders which lead to skeletal muscle fatigue, chemotherapy induced toxicity in the heart and heart failure. Understanding these mechanisms may lead to successful gene therapy treatment and to the design of a new range of drug therapies to treat these devastating disorders.
Using Gene Delivery Tools To Understand And Treat Skeletal Muscle-related Disease
Funder
National Health and Medical Research Council
Funding Amount
$459,270.00
Summary
As a muscle biologist, I study the mechanisms that regulate skeletal muscle size, so that we can develop therapies for muscle wasting. What sets my research apart is my combination of expertise in muscle biology, and the use of recombinant viral vectors for altering the expression of specific genes exclusively in skeletal muscles. Our approaches enable us to study the inner workings of muscles in ways others cannot, and develop promising new therapies for treating muscle diseases.
Coordination Of The Fanconi Anemia Pathway To Maintain Genome Stability
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Fanconi anaemia is a heritable disorder where bone marrow failure occurs on average at age seven and is the major cause of death at around age 20. Many patients also develop leukaemia, representing another overwhelming hurdle in their youth. The incorrect function of any one of 19 proteins can lead to Fanconi anaemia. We will search for a drug that can compensate for the absence of one of these proteins to allow correct function of the other proteins offering possible leads for treatment.
Advancing The Diagnosis And Treatment Of Inherited Muscle Disorders
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Inherited myopathies collectively affect ~1 in 1000 people, cause life-long disability and often shortened life. This fellowship addresses two key areas of need. 1. New gene discovery for the inherited myopathies using the latest genetic techniques and 2. developing therapies. I will test two recently developed drugs as potential treatments for tropomyosin myopathies and investigate key areas of disease mechanism for tropomyosin and RYR1 myopathies to identify new therapeutic targets.
Heart attacks remain a major cause of morbidity and mortality. I am an interventional cardiologist who heads an expanding basic and translational science laboratory (Cardiac Oxidative Signalling) at the Kolling Institute and who plays a leading role in clinical cardiovascular research at Royal North Shore Hospital. My vision is to translate fundamental discoveries in our Laboratory to new therapies and methods of risk stratification to improve immediate and long term outcomes of patients sufferi ....Heart attacks remain a major cause of morbidity and mortality. I am an interventional cardiologist who heads an expanding basic and translational science laboratory (Cardiac Oxidative Signalling) at the Kolling Institute and who plays a leading role in clinical cardiovascular research at Royal North Shore Hospital. My vision is to translate fundamental discoveries in our Laboratory to new therapies and methods of risk stratification to improve immediate and long term outcomes of patients suffering heart attack.Read moreRead less
WHY YOUNG PEOPLE DEVELOP OLD KNEES: PREDICTORS OF EARLY JOINT CHANGES FOLLOWING KNEE LIGAMENT RECONSTRUCTION
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
My research investigates how muscles & movement patterns (i.e. biomechanics) contribute to early adverse knee cartilage & bone changes in young individuals at risk of developing premature knee osteoarthritis (OA): a debilitating disease causing pain & diminished quality of life. Biomechanical measures selected can be modified with interventions such as exercise & gait retraining. Ultimately, my research could reduce future risk of knee OA & its resultant personal & societal costs.
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.