Use Of The Norfolk Island Genetic Isolate For Disease Gene Mapping
Funder
National Health and Medical Research Council
Funding Amount
$978,500.00
Summary
This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL ....This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL that influence cardiovascular disease using samples from this population isolate.Read moreRead less
Statistical Methods And Algorithms For Analysis Of High-throughput Genetics And Genomics Platforms
Funder
National Health and Medical Research Council
Funding Amount
$1,557,500.00
Summary
Through rapid advances in high-throughput -omics technologies, the number of phenotypes and the number of genotypes in gene mapping studies are or will be orders of magnitudes larger than in previous studies. Current algorithms and analysis methods have not kept up with the speed of data collection, nor has the training of qualified researchers. We will develop quantitative trait loci (fine) mapping analysis methods and bioinformatics algorithms and train (post)graduates in these research areas.
Mapping Genes For Typical Migraine Using Twin Families.
Funder
National Health and Medical Research Council
Funding Amount
$439,124.00
Summary
Current evidence suggests multiple genes may underlie susceptibility to the more common forms of migraine. The project will look to see if the these genes provide clues to the further elucidation of the complex molecular pathways of migraine and will help in the development of diagnostic tests and evidence-based treatment strategies.
We propose an integrated program of bioinformatics research and capacity building focused on functional genomics. We will address research problems in the analysis and interpretation of high-volume genomic and proteomic data, in comparative sequence analysis, in determining the relation between genotype and phenotype using mutagenesis screens, and in making effective use of single nucleotide polymorphisms. Our capacity building will focus on the research training of students (undergraduates thro ....We propose an integrated program of bioinformatics research and capacity building focused on functional genomics. We will address research problems in the analysis and interpretation of high-volume genomic and proteomic data, in comparative sequence analysis, in determining the relation between genotype and phenotype using mutagenesis screens, and in making effective use of single nucleotide polymorphisms. Our capacity building will focus on the research training of students (undergraduates through the UROP scheme, honours and PhD) and postdoctoral scholars.Read moreRead less
Molecular Analysis Of Pathways In Diabetes (MAPDB) Study
Funder
National Health and Medical Research Council
Funding Amount
$3,348,000.00
Summary
The sequence of human genome provides a complete part-list of the genes and proteins that make our bodies. A most unknown subset of these parts work together in molecular pathways that underpin susceptibility and resistance to Type 1 diabetes and its complications. The MAPDB study will link patients, families, doctors, genome experts, immunologists, physiologists, statisticians and data base programmers together to illuminate these molecular pathways. In particular, the study will reveal genes a ....The sequence of human genome provides a complete part-list of the genes and proteins that make our bodies. A most unknown subset of these parts work together in molecular pathways that underpin susceptibility and resistance to Type 1 diabetes and its complications. The MAPDB study will link patients, families, doctors, genome experts, immunologists, physiologists, statisticians and data base programmers together to illuminate these molecular pathways. In particular, the study will reveal genes and pathways that medicate protection from diabetes and its complications - either by inhibiting T cell responses to pancreatic beta cells, protecting or regenerating beta cells in the face of metabolic or immunologic stress, or protecting eyes and kidneys from the damaging effects of high blood glucose. By identifying genes and proteins with these functions, the study will enable new treatments to be developed aimed at augmenting these protective pathways, to prevent diabetes starting in children at risk, and to preserve beta cell mass, protect transplanted stem cells or beta cells, and prevent eye and kidney damage in people already affected by Type 1 diabetes. Genes and proteins that are needed for T cell attack on beta cells will also be revealed. This information will enable new treatments to be developed that block these processes, to prevent diabetes from starting, to preserve beta cell mass and to prevent destruction of transplanted stem cells or beta cells. The MAPDB study will also identify different versions-alleles- of many of the genes in the pathways described above. Particular combinations of these gene alleles will be defines that can identify people at high risk of developing Type 1 diabetes, risk of cell or islet transplantation rejection, or at most risk for eye-kidney complications. Different gene combinations may be found that allow different kinds of Type 1 diabetes to distinguished. By creating ways to identify and distinguish people's individual risk, the study will yield diagnostic tests to enable new treatments and clinical trials to be targeted.Read moreRead less