Early Molecular Causes Of Pathological Cardiac Hypertrophy And Failure
Funder
National Health and Medical Research Council
Funding Amount
$311,860.00
Summary
Pathological increase in heart size is a common condition in Australia. Small regulatory RNAs are now known to have a role in the normal development of the heart. Therefore we want to identify and then test the use of small RNA molecules as prevention and therapy for heart enlargement in an animal model. We will also identify different combinations of changes in the DNA sequence that could be used as markers for the predisposition of increased heart.
Novel Skeletal Muscle Enriched Genes In Muscle Biology And Disease
Funder
National Health and Medical Research Council
Funding Amount
$900,467.00
Summary
Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.
Age Related Macular Degeneration: Novel Ways To Reduce Vision Loss Through Understanding A High-risk Phenotype And Validating A New Early Intervention.
Funder
National Health and Medical Research Council
Funding Amount
$2,156,372.00
Summary
Age-related macular degeneration (AMD) is the leading cause of vision loss in older individuals. AMD eyes with reticular pseudo drusen (RPD) are now recognised as at high-risk of faster progression to vision loss. Identifying the underlying mechanisms driving RPD is crucial for to identify specifically targeted therapeutic options. Validating our subthreshold laser trial, and our early endpoint will offer the first proven intervention to slow AMD progression to vision loss.
Gene Discovery And Functional Studies To Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$381,343.00
Summary
Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development ....Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.Read moreRead less