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
Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.
Cancer is a genetic disease – it occurs because of genetic changes in the body that change how a cell grows, and because it occurs more often in people who have an inherited predisposition to cancer. My aim is to uncover more of the genetic events that give rise to cancer, particularly of the breast, ovary and stomach, so that we can identify people at high risk, and advice them accordingly, and also so that we can devise better treatments directed at particular genetic alterations.
We recently established the Centre for Neurogenetics and Statistical Genomics, a research centre within the Queensland Brain Institute. It was established to bring together a team of researchers with expertise in neurogenetics, neuropsychiatric genetics, statistical genomics and computational biology. During my Fellowship I will conduct research at this Centre to elucidate the genetic basis of neurogenetic diseases and psychiatric disorders, using genomic tools and data analysis.
Developing And Applying Statistical Genetics Methods To Identify Genes, Molecular Biomarkers And Environmental Agents That Causally Affect Risk Of Complex Musculoskeletal Diseases
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
My aim is to identify genes, biological molecules and environmental factors that causally affect risk of osteoporosis and ankylosing spondylitis (a form of autoimmune arthritis) using novel and existing statistical genetics methodologies. My research will advance understanding of the causes of these diseases, identify new opportunities for their treatment, and provide the scientific community with new statistical methods and software to identify factors that causally influence risk of disease.
I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by studying the effects of personal characteristics, cancer history, genetic factors and family history of cancer using large data sets from international consortia I helped establish. My research will enable targeting of screening to those most at risk and will aid the discovery of new causes for bowel cancer.
Translation Of Genetic Findings Into Improved Health Outcomes For Common Eye Diseases In Our Society
Funder
National Health and Medical Research Council
Funding Amount
$675,736.00
Summary
Associate Professor Paul Baird of the Centre for Eye Research Australia, University of Melbourne specialises in identifying and understanding how genetic changes are involved in causing the commonest causes of vision loss and blindness in our society including age related macular degeneration, short-sightedness and glaucoma. His Fellowship will be used to better understand how genes and environment cause these diseases, allowing translation of findings intto new and improved treatments for patie ....Associate Professor Paul Baird of the Centre for Eye Research Australia, University of Melbourne specialises in identifying and understanding how genetic changes are involved in causing the commonest causes of vision loss and blindness in our society including age related macular degeneration, short-sightedness and glaucoma. His Fellowship will be used to better understand how genes and environment cause these diseases, allowing translation of findings intto new and improved treatments for patients.Read moreRead less
I work on mitochondrial diseases, which are inherited disorders of metabolism that block conversion of food energy into chemical energy needed by our cells. We focus on understanding (i) the genetic basis of these disorders using approaches such as massively parallel sequencing, systems biology and experimental studies, and (ii) the detailed mechanisms of disease by studying cell lines from patients and animal models. We aim to develop better methods for diagnosis, treatment and prevention.
There are two arms to the immune system, one that learns and adapts, which can cause autoimmune disease, and another that is immediate and innate, and can cause autoinflammatory disease. This proposal continues our work in the characterization of rare genetic autoinflammatory disesaes and extrapolates these studies to more common chronic inflammatory diseases. This stands to improve current diagnosis and treatment, and elucidate future drug targets that could be targeted clinically.
I am interested in using new technologies to understand how and why cancers develop. I am focused on sarcomas, cancers that particularly affect the young, but rare and neglected cancers more generally. I want to use the knowledge we can gain from basic research to develop new models of clinical care, that will reduce the morbidity and mortality from these deadly diseases.