Identification Of Parkinson's Disease Genes In Queensland Families Showing Patterns Of Mendelian Inheritance.
Funder
National Health and Medical Research Council
Funding Amount
$466,759.00
Summary
In rare cases, Parkinson's disease can be inherited through the generations of a family and it is possible to identify genetic changes that lead to this type of disease. This project aims to use new genetic sequencing technologies in several Australian families with inherited PD to find new genes that cause disease. This research will not only help these families but will teach us more about the reasons brain cells degenerate in this condition and other similar age-related brain diseases.
Genome-wide Association Study Of Migraine In Women With Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$320,036.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that affects people during their most productive years (25% of females and 7.5% of males). Women suffering endometriosis (a painful gynecologic disorder affecting up to 10% of women) are at an increased risk of suffering migraine headaches. Our proposed collection of migraine phenotype data on our endometriosis cohort will facilitate identification of genes underlying both disorders.
CAGE: Consortium For The Architecture Of Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$501,080.00
Summary
This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common disease ....This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common diseases.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.
Identification Of Novel Common Genetic Risk Factors For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$593,783.00
Summary
Multiple genetic factors underlie susceptibility to endometriosis—a common gynaecological disease associated with severe pelvic pain and sub-fertility. Through the identification of novel genetic risk factors and pathway-based analyses, this project will increase our understanding of the underlying genetic architecture and complex molecular pathways of endometriosis and lead to the development of diagnostic tests and rational treatment strategies.
Identification Of Schizophrenia Susceptibility Genes: A Collaborative Project With The University Of Indonesia
Funder
National Health and Medical Research Council
Funding Amount
$546,825.00
Summary
Schizophrenia is present in all populations at a similar incidence. The project aims to identify genetic risk factors in three genomic regions previously detected by us in a genome-scan for genetic linkage in 152 Indonesian families. Colleagues at the University of Indonesia will collect an additional sample of 2000 individuals for replication. This sample will be available for research in Australia. Knowledge of risk factors will aid in diagnosis, prevention, and development of novel therapies.
Many recent gene mapping efforts have focused on population based approaches instead of previously used family based approaches. One of the limiting factors with population based approaches is the cost of the technology - each participant must be evaluated (or genotyped) for hundreds of thousands of genetic markers. The cost can be reduced by using an approach which pools individuals together for genotyping, with statistical models used to deal with the problems that this creates.