The Role And Inheritance Of Constitutional Epimutations In Early-onset Colorectal Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$347,551.00
Summary
Traditionally familial cancers are thought to be caused by spelling mistakes within the genetic code of cancer prevention genes. Our group has found that chemical attachments to one gene (MLH1) stops it working, even where there is no spelling mistake, and that those chemical changes can be inherited in families with bowel cancer. We will determine how frequently this type of defect occurs in bowel cancer patients, how and why it arises, and if other cancer genes are similarly affected.
I am a reproductive biologist whose research is focussed around understanding how the early events of conception and embryo development are controlled. Critical aspects of my research are to determine the consequences to pregnancy and adult health if the
Developing A Scalable, Woman-centred Model For Cervical Cancer Screening In Vulnerable Women In India
Funder
National Health and Medical Research Council
Funding Amount
$1,330,369.00
Summary
Cervical cancer is a devastating but preventable disease and 1 in 5 cases of cervical cancer in the world occur in India. We will work with women, communities, and health services in two States of India (Tamil Nadu and Mizoram) to design a woman friendly approach to prevent cervical cancer. This project brings together international and Indian experts to overcome current barriers to cervical screening by using a newer, more effective way of screening to reach underserved women and save lives.
Variable Expressivity And Epigenetic Inheritance At The Axin Fused Locus In The Mouse
Funder
National Health and Medical Research Council
Funding Amount
$242,545.00
Summary
Genes influence the way we look and variations in gene sequence can account for the differences between individuals. Family traits are often credited to gene variants that are passed down through generations of families. There is now intriguing evidence, some coming from our laboratory, that gene sequence is not the only thing we inherit from our parents. Modifications that alter the expression but not the sequence of a gene, known as epigenetic modifications can, it turns out, be inherited in m ....Genes influence the way we look and variations in gene sequence can account for the differences between individuals. Family traits are often credited to gene variants that are passed down through generations of families. There is now intriguing evidence, some coming from our laboratory, that gene sequence is not the only thing we inherit from our parents. Modifications that alter the expression but not the sequence of a gene, known as epigenetic modifications can, it turns out, be inherited in mammals. An epigenetic modification is a mark, present on some genes that determines whether the gene is expressed (switched on) or silent. Animals are thought to acquire this mark during development and it is retained throughout life except in germ cells where the mark is generally, but not always, erased. The establishment of the mark appears to be a stochastic event at the cellular level resulting in mosaic expression. The percentage of marked cells can differ from one individual to another . In theory, this could help to explain why individuals with identical genetic information, such as identical twins, can have different phenotypic characteristics. The fact that these modifications can be inherited implies that there is an alternative mode of inheritance of genetic traits which does not involve mutation but which can be carried from generation to generation in a semipermanent way. Understanding the mechanisms underlying these events is important if we wish to predict or modify the phenotype of an invidual or that of his or her offspring.Read moreRead less
Targeting At Risk Relatives Of Glaucoma Patients For Early Diagnosis And Treatment (TARRGET)
Funder
National Health and Medical Research Council
Funding Amount
$595,375.00
Summary
Glaucoma is the second leading cause of blindness in Australia but early detection and treatment can prevent blindness. We will recruit patients with advanced glaucoma from an Australia wide registry and refer their close relatives to have an eye exam and genetic testing to see if they are at risk of glaucoma. We will evaluate how a coordinator can improve the uptake of this screening program referring people to local eye care providers and in rural WA providing screening in 16 remote locations.