Investigating The Role Of Pigmentation Pathway Genes In Moliness And Melanoma Risk
Funder
National Health and Medical Research Council
Funding Amount
$943,545.00
Summary
Melanoma is an important cause of death in Australia and our generally light pigmentation in a geographical area of high sun exposure is a major factor in this. Our research increasingly points to certain pigmentation genes having a direct biochemical influence on cancer risk in addition to their risk via pigmentation. Understanding how the genes that deternine skin, hair and eye colour act to modify moliness and melanoma risk is important for public health prevention schemes.
This fellowship supports continuing work on statistical methods and applications for the detection and characterization of genes involved in complex diseases, notably melanoma, but a number of related characteristics such as skin hair and eye colour, moles and freckling. The other complex disease I work on are the allergic disease, where I am involved in both human and animal based studies of allergic dermatitis and asthma.The types of data to be analysed include genome-wide genotype data and ev ....This fellowship supports continuing work on statistical methods and applications for the detection and characterization of genes involved in complex diseases, notably melanoma, but a number of related characteristics such as skin hair and eye colour, moles and freckling. The other complex disease I work on are the allergic disease, where I am involved in both human and animal based studies of allergic dermatitis and asthma.The types of data to be analysed include genome-wide genotype data and eventually whole genome sequence data.Read moreRead less
Deciphering Mechanisms Of Disease Evolution In Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$845,093.00
Summary
In many patients, cancers are ever-changing, even after they have formed. This explains why many cancers can spread beyond the point of cure by surgery and why they can become resistant to treatments. This project will use patient melanomas and laboratory modelling to understand how melanomas change as they grow and spread. The results will be used to identify the nature of evolutionary changes in cancer in order to predict and even exploit them in treatment.
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
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
Study Of C-KIT Mutations In Familial Gastrointestinal Stromal Tumours, Melanoma And A Novel Form Of Waardenburg Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$68,378.00
Summary
The primary aim of this research project is to study mutations in a cancer causing gene called c-KIT. We seek to identify tumour characteristics which are predictive for the presence of particular types of c-KIT mutations in melanomas and gastrointestinal stromal tumours. The detection of tumours harbouring these mutations will help in the treatment of cancer sufferers because this group of patients have been shown to respond very well to a class of drugs known as tyrosine kinase inhibitors.
My work on human pigmentation genetics has provided a framework to understand normal variation in this physical trait and the associated genotypic risk factors for skin cancer development. The genes that determine an individual's skin phototype and the ce
Functional Analysis Of Human MC1R Polymorphisms In Directing Melanocyte Phenotype
Funder
National Health and Medical Research Council
Funding Amount
$361,527.00
Summary
Sunsmart campaigns are a unifying element in the lives of many Australians who wish to ensure protection against the damaging effects of ultraviolet rays in sunlight. Indeed, Australians have the highest incidence of UV-induced melanoma in the world. Although it is evident that lighter skin colours are more susceptible to sun damage, the relationship between sun exposure, skin type and melanoma formation is less clear. An essential first step in understanding the complex interactions that give r ....Sunsmart campaigns are a unifying element in the lives of many Australians who wish to ensure protection against the damaging effects of ultraviolet rays in sunlight. Indeed, Australians have the highest incidence of UV-induced melanoma in the world. Although it is evident that lighter skin colours are more susceptible to sun damage, the relationship between sun exposure, skin type and melanoma formation is less clear. An essential first step in understanding the complex interactions that give rise to melanoma, and in identifying individuals that have a high susceptibility, is to reduce phenotypic analyses to genotypic classifications. As pigmentation phenotype is a factor of central importance in determining an individuals risk for melanoma, characterisation of the genes underlying the physical qualities of human eye, hair and skin colour will give a more direct and accurate genotypic assessment of risk. Results from an epidemiology study of melanoma patients in Queensland have identified a number of genetic changes within the melanocyte stimulating hormone receptor (MC1R) gene that associate with skin, hair and eye colour as well as with incidence of melanoma. Further investigation of MC1R gene alleles which segregate with skin and hair colours will provide the beginning for a whole new genotype-based classification of skin colour and melanoma risk, and will significantly contribute to our understanding of what makes some individuals highly susceptible to melanoma while others are not. Indeed, MC1R polymorphisms may numerically be the most important melanoma predisposition gene yet identified, exerting its effects as one of those common genes of small effect which may account for much more of the case load in melanoma than rarer genes of large effect. Studies such as this will enable powerful genotyping methods to be employed in identification of those individuals at highest risk for melanoma and other skin cancers.Read moreRead less