GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Finding Genetic Risk Markers For Endometrial And Other Cancers
Funder
National Health and Medical Research Council
Funding Amount
$370,668.00
Summary
Studies investigating thousands of genetic markers have revolutionised our understanding of genes involved in cancer. They have also shown that a single gene can be associated with multiple cancers. This project will discover new genes involved in endometrial cancer by detailed genetic analysis, and investigate the genetic similarities between endometrial cancer and different cancers. Results will improve the understanding of cancer and provide opportunity to discover future cancer treatments.
Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Genetics To Function: Identifying Genes Mediating The Biological Effects Of Type 2 Diabetes GWAS SNPs
Funder
National Health and Medical Research Council
Funding Amount
$438,075.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply an innovative approach to accelerate the latest genetic discoveries in diabetes to understand the mechanism behind the disease process. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Determining Shared Genetic Control Of RNA Transcription Across 45 Human Tissue Types
Funder
National Health and Medical Research Council
Funding Amount
$264,684.00
Summary
There is strong evidence that much of the genetic susceptibility to disease acts through altering way genes are turned into proteins via RNA transcripts. One important problem in using transcriptomic data to study diseases is that the genetic control of RNA transcription is known to vary between tissues. This study will use new methods and RNA data from 45 human tissues to show the degree of common genetic control for each RNA transcript between each pair of tissues.
Population Genetics And Functional Genomics Approaches To Improve Outcomes For Patients With Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$466,492.00
Summary
Colorectal cancer (CRC) is the third leading cause of cancer related death in Australia, and the 5-year survival rate for metastatic disease remains below 10%. Over the next 4 years, my translational research program will focus on improving patient outcomes in four ways: Discovery of inherited variants affecting CRC risk and progression, tumour molecular classification, discovery of markers for prognosis and drug response, and elucidation of the molecular mechanisms driving CRC development.
Neural And Genetic Predictors Of Response To Exposure Therapy In Posttraumatic Stress Disorder
Funder
National Health and Medical Research Council
Funding Amount
$391,295.00
Summary
This project aims to identify neural and genetic predictors of treatment response in Posttraumatic Stress Disorder (PTSD). Exposure therapy is the most effective treatment for PTSD, but it is resource intensive and expensive and only 40% of patients respond. By identifying predictors of treatment response, this will allow us to identify at-risk patients and provide more intensive treatmentt prior to engaging in exposure therapy.
The Characterisation Of The Functional Regions Of Sarcomeric Alpha-actinins And To Determine How The Absence Of Alpha-actinin-3 Influences Human Skeletal Muscle Function And Metabolism.
Funder
National Health and Medical Research Council
Funding Amount
$95,313.00
Summary
We are studying a muscle protein called a-actinin-3. This protein is absent in approximately one billion people worldwide. A-actinin-3 is associated with athletic performance. Our goal is to explore how the absence of a-actinin-3 influences human skeletal muscle function and metabolism. We will be studying a-actinin-3 deficiency using a mouse model.