Understanding The Developmental Basis Of Kidney Disease
Funder
National Health and Medical Research Council
Funding Amount
$622,655.00
Summary
Kidney disease is a considerable burden on the health system and much of it derives from events that occur during organ development. In this grant I will investigate why human nephron number varies between people, how renal cysts form and what genes are mutated in patients with congenital kidney malformations.
The genetic material is packaged in the cell nucleus with histone proteins. Modifications of histones determine if a particular area of the genome is active or repressed. We are investigating the roles of a family of histone modifying proteins, the MYST proteins. Mutations in these proteins cause intellectual disability and cancer. The research program will provide knowledge that may become the basis for the development of drugs for the treatment of cancer and neurodegenerative disorders.
Identifying The Genetic And Environmental Causes Of Congenital Malformation
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
Birth defects are common, devastating and costly to families and to society. The cause is unknown in 80% of cases. This research is helping families by finding the gene mutations that cause birth defects. Gene discoveries, in some cases, will highlight environmental factors that are important for normal embryo formation, such as oxygen levels and dietary components. By identifying gene and environmental factors associated with causing birth defects, we hope to ameliorate or prevent many cases.
Developmental Genetics And Stem Cell Biology Of Birth Defects And Cell Based Therapy
Funder
National Health and Medical Research Council
Funding Amount
$823,008.00
Summary
Professor Tam is a mammalian embryologist studying the genetic and cellular mechanisms that form and shape the embryo and its organs during development. His work will help us to understand the causes of birth defects, how to prevent them and to correct the disorders by stem cell-based therapy.
Cancer is linked to mutations in a large variety of genes but how these changes impact on cell behaviour is often unknown. We are using functional genomics in zebrafish to identify genes that are essential for rapid rates of proliferation by intestinal epithelial cells. Seven genes have been cloned so far and our next task is to analyse, using mouse models and human cancer transcriptome analysis, whether any are indispensable for cancer growth and thereby present suitable targets for therapy.
Discovery And Translation Of Disease Causing Mutations With Genomic And Transcriptomic Data
Funder
National Health and Medical Research Council
Funding Amount
$622,655.00
Summary
This proposal will develop and apply methods for the analysis of genetic data generated from family and cohort studies of collaborators to identify genetic risk loci for both neurogenetic disorders and infectious diseases, particularly malaria. The project will combine large-scale datasets of different types and across different species. This will require the development and application of multivariate statistical analysis methods suited to the data.
Early Life Exposures And Chronic Disease: Mechanisms And Preventative Strategies
Funder
National Health and Medical Research Council
Funding Amount
$851,980.00
Summary
The world is facing an epidemic of chronic disease and adverse environmental exposures in early life are partly responsible. One reason why we have not been able to do more to prevent this is the lack of appropriate methods for measuring environmental exposures during pregnancy and infancy. My research will develop and validate methods for measuring exposures early life and the health consequences of these exposures with the aim of developing preventative interventions
Lifecourse And Global Epidemiology Of Adolescent Health And Wellbeing
Funder
National Health and Medical Research Council
Funding Amount
$863,910.00
Summary
In the past 20 years, my group has become the world-leader in adolescent health research. We have published papers that have transformed thinking on adolescent health. In the next five years, we will undertake research into the effects of puberty on mental health, explore the effects of health prior to pregnancy on a healthy start to life for the next generation and undertake global research that will enable the roll-out of new multi-billion dollar investments in adolescent health.
We will apply genome-wide approaches to identify the gene networks that regulate the self-renewal and the differentiation of muscle stem cells and their fusion to muscle fibres. These studies will deliver the first characterisation of the molecules and pathways implicated in these processes, which are essential steps of muscle growth.