Disorders of sexual development are among the most common form of birth defects in humans (1 in 4,000 births) because failure of the gonads to develop does not affect the viability of the individual. Such disorders can have profound psychological and medical consequences upon the individual, family, and society. Some intersexual conditions are the result of inappropriate exposure to hormones during fetal life, and others are due to spontaneous or inherited gene mutation. About 5-10% of ovarian c ....Disorders of sexual development are among the most common form of birth defects in humans (1 in 4,000 births) because failure of the gonads to develop does not affect the viability of the individual. Such disorders can have profound psychological and medical consequences upon the individual, family, and society. Some intersexual conditions are the result of inappropriate exposure to hormones during fetal life, and others are due to spontaneous or inherited gene mutation. About 5-10% of ovarian cancer cases, that affect 1 in 8000 Australian women, are due to the inheritance of a faulty gene. An understanding of the way gene expression and hence tissue differentiation is altered after sex reversal will inform us about the causes and consequences of normal and abnormal sexual development, gonadal malignancies and infertility. The gonad is unusual in that two completely different organs can arise from an essentially identical primordium, so that errors in development lead to intersexual phenotypes. We will use our new experimental animal model to clarify these processes.Read moreRead less
The Role Of Non-coding RNAs In Development And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$420,872.00
Summary
We have discovered a new mechanism by which genome activity is regulated. This project will test the hypothesis that this mechanism is critical for cell growth and embryonic development. It has the potential to identify new causes of birth defects and may also be relevant to understanding the etiology of other diseases such as cancer, resulting in improvements in diagnosis and management of disorders that present a major health care burden.
MicroRNA Regulation Of Sex Determination And Gonad Development.
Funder
National Health and Medical Research Council
Funding Amount
$518,076.00
Summary
Sex determination, the decision to develop into either boy or girl, influences most aspects of our lives. Consequently, disorders of sexual development (~1% of births), resulting in genital abnormalities, infertility and often cancer, are extremely traumatic for the individual. The molecular basis of these disorders is not well understood. This project will identify new factors important for sex determination and therefore will improve diagnosis and clinical care for the patients.
Hypospadias is one of the most common developmental defects in humans, yet over two thirds of the cases cannot be explained. Our recent studies using marsupials show that this process is mediated by 5-alpha-androstanediol, a hormone with previously undetermined physiological function. This study will provide novel data on the interactions of the genes and hormones that will inform our understanding of this common developmental defect of male development
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.
Disorders Of Gonadal Development: Molecular Approaches To Improved Patient Care
Funder
National Health and Medical Research Council
Funding Amount
$863,413.00
Summary
We will use new genomic technologies to identify the genetic causes of disorders of sex development (DSD), a common and often distressing class of birth defect. Knowing the molecular lesion will take the guesswork out of diagnosis and treatment of DSD children. We will also exploit a new discovery to develop new means of rapid, cost-effective, non-invasive diagnosis and therapy for testicular cancer, the commonest form of cancer in men under 30.
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.