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.
Cancer Genomics; Psychosocial, Behavioural And Ethical Issues And Outcomes, Two Inter-related Longitudinal Studies
Funder
National Health and Medical Research Council
Funding Amount
$506,654.00
Summary
Over 1/3 of patients with cancer will die of their disease. Genomics offers hope of more tailored risk management and treatment, but will only realize its promise if patients understand, cope with, inform relatives about, and make informed decisions based on, genomic results. This study will be the first internationally to explore the knowledge, attitudes, preferences, experiences and outcomes of cancer patients who undergo genomic testing and their relatives, over time.
Does Mobile DNA Activity Contribute To Reproductive Failure?
Funder
National Health and Medical Research Council
Funding Amount
$389,076.00
Summary
One in four pregnancies in Australia will end in miscarriage. Infertility affects about 15% of Australian couples and is highly correlated with increasing maternal age. In this study, we will use cutting edge single-cell genomic approaches to investigate the activity of mobile DNA elements or “jumping genes” as a previously unexplored cause of reproductive failure, including spontaneous miscarriage and age-related female infertility.
Schizophrenia affects 1 in 100 people, and yet its causes remain largely unclear. To improve understanding, treatment and management of the disease, the team performing this research will evaluate whether mobile DNA elements found in our genome are activated by stress and thereby alter how brain cells work in individuals affected by schizophrenia. They will also test whether mobile DNA can be blocked by drugs, perhaps revealing new strategies to treat the disease.
Robust Bioinformatics For Predicting Bacterial Pathogens From Microbiome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$644,151.00
Summary
We propose to develop new methods for the identification of microbial pathogens using High Throughput DNA Sequencing (HTS). Study of the microbiome - the genes encoded by the assemblage of microbial species present in an environment - using HTS technologies is revolutionising our understanding of human-microbe interactions. Our proposed work includes fundamental computational and theoretical advances and applying these techniques to solve critical problems in pathogen detection.
The Identification Of New Epilepsy Genes By Whole Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$1,069,803.00
Summary
Epilepsy is a common brain disorder affecting approximately 50 million people worldwide. The most common type of epilepsy is known as focal epilepsy. Our group has recently shown the importance of genetic mutations as causes of focal epilepsy. Using modern genomic technologies we will identify new genes in focal epilepsy. We will make animal models of these genes to better understand the pathobiology of epilepsy so that new treatments can be developed for patients.
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.
A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
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.
Gene Discovery In Motor Neuron Disease Through Systems Genomics
Funder
National Health and Medical Research Council
Funding Amount
$938,932.00
Summary
Motor neuron disease (MND) is an adult-onset, rapidly progressive neurodegenerative disorder that leads to paralysis and death, typically within 2 to 5 years of first symptoms. More than 85% of cases do not harbour known MND mutations. This proposal exploits genome-wide genetic and epigenetic profiling methods and leverages across multiple existing genomic resources to discover genes and functional pathways that contribute to MND pathogenesis and progression.