Integrative Genomics And Prediction Of Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$766,820.00
Summary
Technologies that measure whole molecular systems are just beginning to reveal the complexity of living organisms and the underlying molecular networks that govern them. Cardiovascular diseases emerge out of these networks as a result of genetic and molecular perturbations. This project aims to characterize the role molecular networks play in cardiovascular disease risk as well as how they react to genetic risk factors. In doing so, it will identify potential therapeutics and personalized approa ....Technologies that measure whole molecular systems are just beginning to reveal the complexity of living organisms and the underlying molecular networks that govern them. Cardiovascular diseases emerge out of these networks as a result of genetic and molecular perturbations. This project aims to characterize the role molecular networks play in cardiovascular disease risk as well as how they react to genetic risk factors. In doing so, it will identify potential therapeutics and personalized approaches to target pathogenesis.Read moreRead less
Methods And Software Tool For Complex Trait Analyses Using Multi-omics Data
Funder
National Health and Medical Research Council
Funding Amount
$573,999.00
Summary
This project aims to develop methods to disentangle the contribution of people’s difference in DNA sequence, DNA methylation, and gene expression to their difference in characteristics (including risks to diseases), and to utilise these information to predict disease risks of different people. This project also aims to develop a versatile and efficient computer software to implement the methods being proposed in this project, as well as all other commonly used methods in the research community.
Role Of Common Genetic Variation Driving Single Cell Transcriptional Heterogeneity Across The Cardiomyocyte Lineage
Funder
National Health and Medical Research Council
Funding Amount
$882,698.00
Summary
In human tissues, most mature cells develop by differentiation from pluripotent stem cells. As they undergo differentiation, their transcriptional activity changes dramatically. Many of the genetic causes for these changes are unknown, which limits research in the use of stem cells for treating and modelling disease. This proposal addresses this problem with cardiac muscle cell differentiation by utilising recent developments in biotechnology that enables individual cells to be sequenced.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
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.
6% of Australian men are infertile. Of these cases 50% are thought to be genetic in origin. Within this project we will replicate high-confidence genetic variants associated with human male infertility in the mouse. Doing so will allow the assignment of definitive genotype-phenotype correlations and the formulation of high confidence advice for clinicians and patients. It will also provide a means to define the mechanism of action and the tools for future pro-fertility treatments.
Advanced Whole-genome Approaches For Causative Variant Detection And Individual Risk Prediction Of Complex Traits In Human Populations.
Funder
National Health and Medical Research Council
Funding Amount
$356,014.00
Summary
The genomics era has demonstrated the true complexity of complex genetic traits, but brings promise for personalised genomic medicine in which diagnosis and treatment are tailored to individuals based on profiles recorded in their genome. This project aims to develop advanced statistical methods to better detect causative variants and to better predict an individual’s risk of disease. Our methods may lead to predictions of risk of disease for individuals that have clinical utility.
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.
Integrative Bioinformatic And Experimental Approaches To Define Novel Roles For Genes That Typically Regulate Axon Guidance In Pancreatic Cancer Initiation
Funder
National Health and Medical Research Council
Funding Amount
$587,955.00
Summary
Early detection and intervention would have a dramatic effect on improving the outcomes for pancreatic cancer. This however relies on understanding how the cancer is initiated. New analysis of more than 100 tumours identified aberrations in genes that typically regulate how the nervous system is positioned during development. We want to use novel bioinformatic approaches and a unique experimental method with cells in culture to rapidly and accurately find out which of these genes drives a normal ....Early detection and intervention would have a dramatic effect on improving the outcomes for pancreatic cancer. This however relies on understanding how the cancer is initiated. New analysis of more than 100 tumours identified aberrations in genes that typically regulate how the nervous system is positioned during development. We want to use novel bioinformatic approaches and a unique experimental method with cells in culture to rapidly and accurately find out which of these genes drives a normal pancreatic cell to become a tumour cell.Read moreRead less
Obesity is a major global public health concern and there is a desperate need to identify new targets to treat obesity. By targeting the lesser investigated CART pathway and identifying the elusive CART receptor this could make a significant inroad to the understanding of the causes of appetite control and the development of obesity.