Exposing The Mechanisms Underlying Mammalian Meiotic Onset
Funder
National Health and Medical Research Council
Funding Amount
$536,563.00
Summary
Germ cells must undergo a special form of cell division, meiosis, before they can form oocytes in females or sperm in males. We want to know, in detail, how meiosis is triggered in germ cells and what the first steps are in meiotic progression. This information will help us understand the causative factors in infertility (1 in 6 couples of reproductive age are infertile), control fertility (develop new contraceptives) and avoid testicular cancer (the most common tumour type in young men).
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.
Characterisation Of Conserved Sox18-dependent Genes In Lymphatic Vascular Development
Funder
National Health and Medical Research Council
Funding Amount
$401,355.00
Summary
Lymphatic vessels are important in a number of diseases including lymphoedema and cancer. There is a significant gap in our basic understanding of how lymphatic vessels form. We have identified a series of genes that are regulated downstream of the lymphatic master gene Sox18 in mouse lymphatic vessels. This study aims to characterise these genes using complementary model systems. The genes and pathways identified will represent potential therapeutic targets in a number of disease contexts.
I am a molecular biologist investigating the role of SRY-SOX transcription factors in the formation and function of the gonad, and to a lesser extent, of bone, the brain and the pancreas. I also identify and functionally characterise other factors causing
Genetics Of Intersex: Antagonism Between Male And Female Pathways During Gonadal Development
Funder
National Health and Medical Research Council
Funding Amount
$567,760.00
Summary
Disorders of sex Development (DSD) are congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Estimates suggest that between 1-100 and 1-300 live birth have DSD; however, the underlying genetic defect is unknown in 80% of cases. Generally, the fate of the gonad, testis or ovary, is determined by the balanced action of male (SRY) and female (Wnt- b-catenin) genes. How do these genes oppose each other? Is this antagonism deregulated in DSD patients?
My background is in the study of human molecular genetic disease, and my interest has evolved to the analysis of embryonic development using the mouse as a model system. My particular interest is in the molecular mechanisms governing limb and craniofacial
Hedgehog Signalling In Limb And Craniofacial Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$494,544.00
Summary
Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in b ....Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in both limb and face development. Based on the organs in which our genes of interest are active, we believe that they will also play key roles in embryonic development of the limbs, face and other organs. We now plan to investigate the regulation of a subset of these genes based on analysis in mouse models of limb and face development. In addition, we have chosen to further analyse the function of a completely novel gene we have identified which our preliminary studies suggest may play a role in the normal development of the lip and palate. These studies have the potential to shed light on the processes governing how organs develop, as well as on the molecular basis of common birth defects such as polydactyly (extra fingers and toes) and cleft palate.Read moreRead less