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.
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.
Better Methods For Individual Risk Prediction Of Complex Traits In Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$748,609.00
Summary
A genetic contribution to many common diseases is shown by an increased risk of disease in family members of diseased individuals. However, for each disease there are likely to be many hundreds of DNA variants each conferring a small increase in risk. This proposal is about the development of better statistical methods to predict disease from genome-wide genetic marker data. Individual risk prediction for disease is likely to become an integral part of Genomic Medicine in Australia.
Identification Of Testis-specific Markers Of Male Infertility
Funder
National Health and Medical Research Council
Funding Amount
$617,008.00
Summary
Infertility affects 1 in 20 men, and carries major health and financial burdens. Patient management is difficult because there are no tests to monitor testicular function. While sperm number is normally used, their absence in the ejaculate provides no information whether sperm are present in the testis suitable for IVF, or if sperm production could be ‘kick-started’ with hormones. Our goal is to identify new markers of testis function in blood, and then use them to help treat infertile men.
Identification And Molecular Characterisation Of High-risk Premalignant Breast Lesions
Funder
National Health and Medical Research Council
Funding Amount
$560,382.00
Summary
Understanding the full repertoire of genetic events that underlie the development of breast cancer may allow development of prevention strategies. This study will analyse genetic data of benign breast lesions that may be non-obligate precursors of breast cancer. Importantly, clinical management of these lesions is difficult. A reliable method of predicting the risk of progression to cancer would be a significant advance, with benefits to individual patients and also the health system.
High-throughput genetic assays are commonly used to study the molecular basis of disease and such technology requires sophisticated data analysis methods that account for significant biological and experimental complexity. Specialized methods will be developed in free public software that will greatly benefit future genetic profiling studies.