Understanding The Genetic Basis Of Breast Cancer: Translation To Primary And Secondary Prevention
Funder
National Health and Medical Research Council
Funding Amount
$2,731,372.00
Summary
We have identified >200 regions of the genome that contain variants that increase breast cancer risk. I will now focus on the main challenges i.e. to a) find the remaining genetic risk factors that will collectively explain all of the genetic risk, b) understand how these work, in particular which genes they influence and c) apply this knowledge to find and develop new drugs. Importantly, such drugs could be used not only to treat breast cancer, but also to prevent it in high-risk women.
Ligand Interactions Of The MC1R Receptor And Cellular Consequences For Melanocyte Responses To UV-damage
Funder
National Health and Medical Research Council
Funding Amount
$578,268.00
Summary
Although it is evident that fair skin types are more susceptible to sun damage, the relationship between sun exposure, skin colour and skin cancer formation is less clear. The genes and processes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of the skin are the focus of this investigation. A major regulator of the response to UV radiation in the skin is the melanocortin-1 receptor. It is essential to understand the complex int ....Although it is evident that fair skin types are more susceptible to sun damage, the relationship between sun exposure, skin colour and skin cancer formation is less clear. The genes and processes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of the skin are the focus of this investigation. A major regulator of the response to UV radiation in the skin is the melanocortin-1 receptor. It is essential to understand the complex interactions of this receptor that induce tanning.Read moreRead less
The Role Of LINE Encoded Natural Antisense Transcripts In Immune Regulation
Funder
National Health and Medical Research Council
Funding Amount
$934,853.00
Summary
Genetic information underpins all life on earth and is processed to make proteins, which determine the characteristics of an organism. However, only about 2% of our whole genome is made up of genes that encode proteins; the other 98% is non-coding and its function remains poorly understood. This proposal aims to utilize cutting edge genomic technologies to generate new knowledge about how the non-coding genome regulates the expression of protein coding genes in human autoimmune disease.
Mitochondrial Function And The Role Of PGC-1a In Parkinson�s Disease
Funder
National Health and Medical Research Council
Funding Amount
$113,322.00
Summary
Parkinson's Disease is the second most common neurodegenerative disease in Australia. Insights into the mechanisms causing Parkinson's disease may lead to therapeutic advances. This project will examine PGC-1a, a co-factor involved in the regulation of cellular energy metabolism, and examine it's role in the development of neuro-degeneration in Parkinson's disease. We aim to provide further understanding of cellular function in Parkinson's disease, and assist in therapeutic trials in neuro-degen ....Parkinson's Disease is the second most common neurodegenerative disease in Australia. Insights into the mechanisms causing Parkinson's disease may lead to therapeutic advances. This project will examine PGC-1a, a co-factor involved in the regulation of cellular energy metabolism, and examine it's role in the development of neuro-degeneration in Parkinson's disease. We aim to provide further understanding of cellular function in Parkinson's disease, and assist in therapeutic trials in neuro-degeneration.Read moreRead less
Identification Of Protein Altering Variants Influencing Preeclampsia Risk
Funder
National Health and Medical Research Council
Funding Amount
$572,014.00
Summary
Preeclampsia is a common and serious pregnancy disorder for which there is currently no early diagnostic test or cure other than delivery. It is also associated with later life cardiovascular disease. The identification of gene mutations for preeclampsia in this study will provide insight into the cause of this disorder that may lead to new treatments and tests to predict those women at risk.
Human Pigmentation Genetics, Melanocyte Biology And Skin Cancer
Funder
National Health and Medical Research Council
Funding Amount
$686,656.00
Summary
The fellowship application by A/Prof Sturm is to support his research into the biology of human skin, hair and eye colour, and the process of melanoma formation. His pivotal discoveries into the genetic basis of pigmentation and its regulation has provided an understanding of these physical traits and the associated genotypic risk factors for skin cancer development. The genes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of t ....The fellowship application by A/Prof Sturm is to support his research into the biology of human skin, hair and eye colour, and the process of melanoma formation. His pivotal discoveries into the genetic basis of pigmentation and its regulation has provided an understanding of these physical traits and the associated genotypic risk factors for skin cancer development. The genes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of the skin are actively being investigated.Read moreRead less
Diabetes is a major health epidemic; and both type 1 and type 2 diabetes can lead to the development of diabetic complications - the major cause of morbidity and mortality from diabetes. Loss of islet function is a key factor in diabetes and my testable hypothesis is that islet inflammation contributes to this process. We will investigate how genes effect islet inflammation. New understanding could lead to biomarkers for determining who is susceptible & new treatment opportunities.
Improving The Diagnosis Of Disorders Sex Development (DSD)
Funder
National Health and Medical Research Council
Funding Amount
$818,997.00
Summary
Disorders of sexual development (DSDs) are surprisingly common, and often result in genital abnormalities, gender mis-assignment, infertility and psychological trauma. We will use our expertise in human genetics, molecular cell and developmental biology, to find genes important for sex development, identify gene defects that cause DSD, and study their functions. We will liaise with clinicians to apply these findings to the accurate diagnosis and medical care of DSD in children.