Identifying New Targets For Primary School Mental Health Interventions Using Population Data
Funder
National Health and Medical Research Council
Funding Amount
$798,882.00
Summary
This project assesses the mental health and well-being of ~87,000 children aged 10 years in New South Wales, and links this information (anonymously) with data on school-based mental health interventions, and data on health, education, and welfare collected from birth. We will identify factors that promote mental health and reduce ill-health. We hope to improve child health by developing new ways to detect early vulnerability for ill-health, and by identifying new health promotion opportunities.
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.
Contrary to traditional belief few cases of cerebral palsy are due to problems at birth. Most have earlier origins. Sophisticated new methods have found that many developmental brain disorders e.g. autism, intellectual disability and epilepsy are associated with submicroscopic but genetically large alterations in the genetic code of these children. This novel study will seek these alterations in a large group of Australian cerebral palsy families. The pilot data show novel and exciting findings.
Defining The Molecular Effectors Of Gene/environment Interaction On Mouse Heart Development
Funder
National Health and Medical Research Council
Funding Amount
$749,271.00
Summary
One third of all birth defects involve the heart, and are the most common cause of infant death. Some defects are due to genetic factors, but others arise when the pregnant mother is exposed to environmental stress. We will examine how one stress (low oxygen levels) causes abnormal heart formation in the embryo, look at what causes this at a molecular level, and explore if such stress increases the risk of heart defects in families with a history of such abnormalities
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.
Identifying Genes Required For Vertebral Column And Heart Formation
Funder
National Health and Medical Research Council
Funding Amount
$950,418.00
Summary
Birth defects occur in about 3% of live births. These originate as the embryo forms, and we have previously shown that some of these are caused by gene mutation and/or environmental factors during gestation. However, the origins of many such defects remain unexplained. We will examine the DNA of patients to find gene mutations causing such defects. We will also test if mutations in these genes increase the likelihood of the embryo developing a defect if it is exposed to environmental stressors.
The Older Australian Twins Study (OATS) Of Healthy Brain Ageing And Age-related Neurocognitive Disorders
Funder
National Health and Medical Research Council
Funding Amount
$940,960.00
Summary
Ageing is associated with cognitive decline and dementia. It is still not completely understood what relative contributions genes and environment play in these. This project is an extension of the Older Australian Twins Study to examine genetic and environmental factors associated with late life brain changes and dementia, and will establish an internationally significant cohort for novel discovery.