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Identification And Analysis Of Novel Genes And Regulatory Regions Associated With Disorders Of Sex Development
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
Children born with a disorder of sex development (DSD) may differ from typical males or females in their chromosomes, hormones or reproductive organs, sometimes resulting in infertility or gonadal cancer. DSDs are the most common birth defect and yet, most cases are unexplained genetically. I hope to identify new genes needed for gonad formation that cause DSD when mutated. This work will provide answers as to how DSDs arise, and allow informed decision-making regarding possible treatments.
Investigating The Genetic Cause Of Genital Abnormalities In Males
Funder
National Health and Medical Research Council
Funding Amount
$299,564.00
Summary
This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.
Identification Of Genes Responsible For Disorders Of Sexual Development Using Genome-wide Copy Number Analysis
Funder
National Health and Medical Research Council
Funding Amount
$305,774.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.
Role Of Placental Heme-oxygenase Pathway In Regulating Preterm Neonatal Cardiovascular Function
Funder
National Health and Medical Research Council
Funding Amount
$176,719.00
Summary
Babies born prematurely are more likely to experience problems as a result of being born early with males doing worse than females. The mechanisms causing this difference are unknown. The control of blood flow in the placenta and fetus is essential for normal growth and development. This project will investigate the influence of duration of pregnancy, gender, and exposure to antenatal steroids on pathways that control blood flow in the placenta and the newborn in babies born after prematurely.
Sex Differences In Long-Term Outcomes Of Young Patients With Acute Myocardial Infarction
Funder
National Health and Medical Research Council
Funding Amount
$333,900.00
Summary
Young women (?55 years) are more likely to die after having a heart attack and face more difficult recoveries compared to similar aged men. However the cause of this difference is unknown. This project seeks to improve the prevention, care and longer term outcomes for young women following a heart attack. Information obtained from will provide evidence-based and actionable information for physicians to inform and manage their patients so that we may ultimately improve the lives of young women.