Disorders of sex development (DSDs) are surprisingly common, and often result in infertility, genital abnormalities, gender mis-assignment and long-term psychological trauma. This research combines expertise in human molecular genetics, mouse developmental biology and protein chemistry to identify genes important for sex determination and development of the gonads, and discover how they contribute to DSD, in order to improve clinical care to patients with DSD.
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.
Whether we are born as a male or a female affects our sense of social place, behaviour, gender identity, reproductive options, and disease susceptibility. I am a molecular geneticist investigating the biology of gender. I study the mechanisms underpinning sexual development, with an emphasis on identifying the genetic causes of ‘intersex’ and transsex disorders. I am also studying how SRY, a male gene, controls voluntary movement, and its possible link to Parkinson’s disease.
Neurobiology Of Schizophrenia And Translation Into New Treatments
Funder
National Health and Medical Research Council
Funding Amount
$763,845.00
Summary
We need to discover novel pharmacological therapies that operate on pathways beyond DAD2R, that will be more effective and have fewer side effects. To identify such agents, we need a better understanding of the biological basis of schizophrenia.
Targeting Prevention And Treatment Of Hypertensive Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
Hypertension, high blood pressure, is a major global health burden. It contributes to heart disease, stroke and kidney failure, and as such is a major cause of premature death worldwide. Advances in the treatment of hypertension has meant that more people are living with disabilities associated with cardiovascular disease. Our work focuses on identifying new treatments to prevent the devastating effects of hypertension on organ function to improve quality of life in men and women.
Neurodevelopmental Mechanisms And Early Intervention In Psychiatric Illness
Funder
National Health and Medical Research Council
Funding Amount
$652,765.00
Summary
Schizophrenia and depression are devastating mental illnesses and a huge burden to society. Drug treatments can be beneficial, but many patients are either treatment-resistant or show severe side-effects. There is an urgent need for truly novel treatment strategies which should ideally prevent symptoms. The main aim of this project is to elucidate brain mechanisms involved in schizophrenia and depression development to inform clinical research about improved preventative treatment strategies.
Understanding And Preventing Adverse Developmental Effects Of Perinatal Infection/inflammation
Funder
National Health and Medical Research Council
Funding Amount
$621,458.00
Summary
Exposure of babies to infection or inflammation within the womb is common and is associated with preterm delivery and illness in newborns. The biggest problem for these babies is lung disease due to inflammation of the lungs before birth and/or in response to lung injury after birth. We are investigating how inflammation alters lung development, and working on developing a novel cell therapy to prevent life-threatening newborn lung disease.
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.
Developmental Programming: Mechanisms And Interventions
Funder
National Health and Medical Research Council
Funding Amount
$705,501.00
Summary
Disturbances during pregnancy can impact on developmental processes and result in increased risk of disease in later life. This project will examine the impact of perturbations such as maternal stress or alcohol consumption on the development of the placenta and fetal kidney. By gaining an understanding of how these organs are affected by prenatal insults, we are likely to be able to develop more effective intervention strategies to ensure all babies receive a healthy start to life.
I am a developmental biologist studying how transcription factors regulate developmental processes. I have a particular interest in the MYST family of co-activators, their role in regulating self-renewal and lineage determination in stem cells, their role in oncogenesis and targeting these proteins to develop new cancer therapeutics.