The Role Chromatin Remodeling Factors In Epigenetic Regulation Of Cardiac Arrhythmia
Funder
National Health and Medical Research Council
Funding Amount
$854,135.00
Summary
Cardiovascular diseases kill an Australian every 11 minutes. Arrhythmias are of particular alarm since they can lead to significantly higher risk of serious strokes, heart failure, and overall mortality. We combine fruit fly genetics with next generation human genomics approaches to find and functionally validate new genes and mutations regulating arrhythmia in fruit flies and atrial fibrillation in humans, and this work can rapidly identify new avenues to pursue therapeutic intervention
Chronic pain will affect most of us at one point in our life, and there is a need for new drugs to manage this condition. The goal of this project is to use a combined state-of-the-art genetics approaches in fruit flies, mice, rats, and humans, to identify and validate new genes that contribute to chronic pain, with the clear long term possibility to develop new strategic therapies to treat chronic pain disease.
Involvement Of The Asciz Gene In Kidney Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$591,128.00
Summary
Congenital abnormalities of the kidney and urinary tract (CAKUT) affect more than 1/500 children. Urogenital development is primarily controlled by a small number of genes that regulate the timing and position of kidney formation. In this application we describe a novel gene involved in this process, establish where it acts, how it regulates gene expression and whether mutations in it cause CAKUT.
Control Of Human ? Cell Differentiation And Function
Funder
National Health and Medical Research Council
Funding Amount
$616,979.00
Summary
Diabetes is a condition in which the body is unable to regulate the level of glucose in the blood. Blood glucose is normally controlled by a particular cell type, the beta cell, which is found in the pancreas. In diabetes, this cell is either missing or does not function correctly. This project will produce human beta cells in the laboratory that can be used to find out what goes wrong in diabetes.
Assessing Acellular Pertussis Vaccine Effectiveness: Integrating Transmission Models, Genetics And Cohort Data To Inform Policy
Funder
National Health and Medical Research Council
Funding Amount
$429,597.00
Summary
Between 2009-12 a very large epidemic of whooping cough occurred in Australia. More surprisingly during the course of the epidemic the bacteria that cause whooping cough showed genetic changes that seemed to avoid protection provided by the current vaccine against whooping cough in Australia. This grant seeks to use mathematical models of whooping cough transmission to explain how this occurred and to establish whether alternative vaccination strategies might improve the control of this disease.
Reducing Pertussis Burden By Optimising Molecular Epidemiological Surveillance Of Epidemic Bordetella Pertussis In Australia
Funder
National Health and Medical Research Council
Funding Amount
$487,258.00
Summary
Australia has experienced a prolonged epidemic of pertussis from 2008 to 2012 and is currently experiencing another epidemic. In this project, we aim to elucidate the evolutionary dynamics of the epidemics by genome sequencing and develop a practical high throughput culture independent method for epidemiological typing. The outcomes will be highly significant for surveillance of pertussis infections and designing strategies for control and prevention of pertussis.
Tissue-dependent Proregenerative Mechanisms In Adult Vertebrates
Funder
National Health and Medical Research Council
Funding Amount
$638,742.00
Summary
This proposal addresses how immune cells participate in regeneration of damaged organs in adult zebrafish. Unlike mammals, zebrafish have a remarkable capacity to regenerate their various body parts in adulthood, providing a model to understand how regeneration capacity might be induced in humans. The proposed study will define mechanisms of immune-mediated regeneration that could provide new cellular and molecular targets for stimulating replacement of damaged organs in the human injury setting
Epigenetic Regulation Of Male Fetal Germ Cell Development.
Funder
National Health and Medical Research Council
Funding Amount
$562,176.00
Summary
Men’s health has declined over recent decades, but the causes remain unknown. Non-genetic (epigenetic) mechanisms affecting formation and function of the male germ cells (which produce sperm) may play an important role. We will determine the role of a key epigenetic modifier on the formation and function of male germ cells, including germ cell tumours. This study will provide fundamental insights into male germ cell epigenetics, and significantly contribute to understanding men's health.
Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
Characterisation Of SRY Macromolecular Complexes To Provide An Enhanced Understanding Of Human Genetic Sex Reversal And Embryonic Sex Determination
Funder
National Health and Medical Research Council
Funding Amount
$237,360.00
Summary
SRY is the most important gene in the determination of human sex. Mutations in the SRY gene that disrupt its ability to interact with other cellular proteins that regulate its function have shown to result in genetic sex reversal. This project will provide a detailed structural profile of the interfaces that are critical for sex determination, provide a molecular basis for XY-genetic sex reversal, and an enhanced understanding of foetal development.