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Birth defects can have devastating consequences for individuals and their families, and improving our ability to diagnose and screen for these disorders has implications for treatment and reproductive options. We are using the mouse as a model to discover genes important in a new class of birth defects caused by dysfunction of a hair-like cellular projection known as the cilium.
The Lililwan Project: Prevalence Of Fetal Alcohol Spectrum Disorders In The Fitzroy Valley
Funder
National Health and Medical Research Council
Funding Amount
$777,758.00
Summary
Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service deliver ....Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service delivery, prevention and education.Read moreRead less
The Role Of MiRNAs In The Regulation Of Sperm Maturation
Funder
National Health and Medical Research Council
Funding Amount
$396,157.00
Summary
Male infertility is an extremely common condition affecting 1 in 20 Australian men. One of the major reasons for this pathology is that the spermatozoa have lost their ability to recognize the egg, a function that is acquired during epididymal maturation. In this project we shall investigate the regulation of epididymal sperm maturation and thus provide new and powerful insights into the causes of male infertility, with practical implications for diagnosis and treatment of this condition.
The Second Australian Study Of Health And Relationships
Funder
National Health and Medical Research Council
Funding Amount
$1,637,477.00
Summary
The present proposal is for the Second Australian Study of Health and Relationships, a survey of 20,000 Australians aged 16–69, in 2011–12 in order to understand and document the changes in Australian sexual behaviour over the past decade. It is essential that policy and practice in the arena of sexual and reproductive health be evidence-based and that the evidence base be as current as is practicable.
The Sexual Health And Attitudes Of Australian Prisoners
Funder
National Health and Medical Research Council
Funding Amount
$1,605,706.00
Summary
The second Sexual Health and Attitudes of Australian Prisoners study will be the largest population-based survey of prisoners’ sexual health, attitudes and behaviour undertaken in Australia. it has been nearly 10 years since the first survey. The 2nd survey will expand survey coverage and examine vulnerable prisoner subgroup, and provide up-to-date evidence essential to sexual and reproductive health policy and practice for this growing and disadvantaged population.
Disorders of sexual development are amongst the most common birth defects in humans. These conditions have profound consequences for the physical and psychological health of affected individuals. The incidence of these disorders is on the rise, and this has been linked to our increased exposure to chemicals in the environment that affect how our hormones function. This project will investigate how these chemicals affect hormonal pathways that control early development.
Nodal Signalling In Male Germ Cell Development: Balancing Fertility And Testicular Cancer Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$536,595.00
Summary
Testicular cancer is the most common type of cancer in men aged 20-40 years, and its incidence has doubled in the last 30 years. It is sometimes fetal and often results in infertility. We have discovered new genes that regulate testicular cell behaviour in the developing fetus, and here test the concept that defects in these genes might disrupt cell behaviour to the point where cancers form during adult life. Outcomes may lead to new ways to diagnose and treat testicular cancers.
Gene Identification In Familial Orofacial Clefts By Genomic Technologies
Funder
National Health and Medical Research Council
Funding Amount
$565,181.00
Summary
Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique t ....Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.Read moreRead less
Understanding The Molecular Basis Of Epididymal Maturation: How Does The Epididymis Modify Spermatozoa, Allowing Them To Recognise The Egg ?
Funder
National Health and Medical Research Council
Funding Amount
$585,898.00
Summary
Male infertility is a significant clinical problem affecting one in twenty Australian men. A common feature of this condition is the sperm’s inability to recognize the egg. Sperm gain this property as they transit an organ known as the epididymis. We have produced genetically modified mice with a specific epididymal defect that prevents sperm-egg recognition. This study will examine the structure of these defective sperm to generate new insights into the molecular basis of sperm-egg interaction.
Periconceptional Alcohol Exposure: Effects On The Embryo And Fetus And Disease Risk In Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$555,780.00
Summary
It is known that consuming large amounts of alcohol during pregnancy can have deleterious effects on fetal growth and development. Less is known about the effects of consumption of alcohol just around the time of conception. This project will use animal models to explore if alcohol can alter development of the very early embryo and whether this has long term consequences for the health of offspring after birth.