Statistical Methods For Identifying Genes Involved In Common Complex Disease
Funder
National Health and Medical Research Council
Funding Amount
$307,232.00
Summary
Better understanding of the genetic component of common diseases (e.g. melanoma, psychiatric disorders) is likely to lead to improved public health. Identification of disease susceptibility loci is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved in many common diseases. This application will focus on developing new statistical genetic methods to better understand genetic variation and to allow more effective gene mapping.
Fine Mapping Of A Significant Linkage Region For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$518,250.00
Summary
Endometriosis is a common disorder affecting up to 10% of women. In this condition, a special type of tissue that normally lines the inside of the womb (the 'endometrium') starts to grow outside the womb, mostly in the pelvis (lower abdomen). Common symptoms are severe pelvic pain, menstrual problems and infertility. The disease has a major impact on women's health, relationships, productivity and life choices. The mechanisms that cause endometriosis are not well understood. Genetic factors infl ....Endometriosis is a common disorder affecting up to 10% of women. In this condition, a special type of tissue that normally lines the inside of the womb (the 'endometrium') starts to grow outside the womb, mostly in the pelvis (lower abdomen). Common symptoms are severe pelvic pain, menstrual problems and infertility. The disease has a major impact on women's health, relationships, productivity and life choices. The mechanisms that cause endometriosis are not well understood. Genetic factors influence a woman's risk of developing endometriosis and finding genes and pathways leading to this disease would be a major advance. This will help design better approaches for the diagnosis, prevention and treatment of endometriosis. Since 1996, nearly 4,000 women with endometriosis plus their families have joined our genetic study. This includes around 1,000 families with two or more sisters who both have the disease. We have looked at the DNA from these sisters and found significant evidence for a gene or genes affecting endometriosis on one chromosome. No one else has linked this location with endometriosis. We are now focusing our efforts in the laboratory on this area, which contains approximately 250 genes. The aim of our new project is to study genes in the region in more detail to pinpoint the gene or genes responsible for risk of endometriosis.Read moreRead less
I am a reproductive biologist investigating biological mechanisms that play a role in common women�s health disorders including endometriosis, uterine fibroids, menstrual disorders and reproductive cancers.
MicroRNA Expression Profiling Of Eutopic Endometrium In Women With Versus Without Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$224,211.00
Summary
Endometriosis is a medical condition where endometrium grows outside the womb. About 10% of women have this condition that can cause abdominal pain, painful periods and difficulty conceiving a child. Now endometriosis can only be diagnosed by surgical procedure. We believe that the presence of endometriosis causes particular small molecules called microRNAs to be present in the lining of the womb or in the blood only in women with endometriosis, and we could develop a test for endometriosis with ....Endometriosis is a medical condition where endometrium grows outside the womb. About 10% of women have this condition that can cause abdominal pain, painful periods and difficulty conceiving a child. Now endometriosis can only be diagnosed by surgical procedure. We believe that the presence of endometriosis causes particular small molecules called microRNAs to be present in the lining of the womb or in the blood only in women with endometriosis, and we could develop a test for endometriosis without resorting to surgery.Read moreRead less
Understanding Women’s Experiences Of Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$83,595.00
Summary
Endometriosis is a chronic condition affecting one in 10 women in Australia. It is associated with many debilitating symptoms including pelvic pain and infertility; which contribute substantial economic burden. It cannot be cured. Very little is known about how women experience this disease. The current study will invite women with endometriosis to participate in interviews about their experience. The findings of this research will contribute to improved health care for the management of endomet ....Endometriosis is a chronic condition affecting one in 10 women in Australia. It is associated with many debilitating symptoms including pelvic pain and infertility; which contribute substantial economic burden. It cannot be cured. Very little is known about how women experience this disease. The current study will invite women with endometriosis to participate in interviews about their experience. The findings of this research will contribute to improved health care for the management of endometriosis.Read moreRead less
Endometriosis affects up to 10% of reproductive aged women causing a range of debilitating symptoms including pelvic pain and infertility. Our team has discovered that small nerve fibres can be found in the endometrium of women with endometriosis that are not present in women without the condition. We will investigate how these nerve fibres grow and the mechanisms of pain generation. This will potentially allow the development of more targeted and effective treatment modalities.
Progenitor Origin And Regulation In Endometrial Regeneration
Funder
National Health and Medical Research Council
Funding Amount
$847,583.00
Summary
The endometrium is the lining of the uterus and regenerates each month during a woman's reproductive years. Stem and progenitor cells in the endometrium are thought to be responsible for this regeneration. We have identified a genetic marker for stem and progenitor cells in the endometrium of mice and will use this to understand endometrial regeneration. This work will address infertility as well as overactive endometrial growth in diseases such as endometriosis and endometrial cancer.
The Role Of Endometrial Stem Cells In Women’s Reproductive Health And Disease, And Their Use In Cell Based Therapies
Funder
National Health and Medical Research Council
Funding Amount
$727,765.00
Summary
The endometrial lining of the uterus rapidly grows and sheds each month in reproductive age women. My discovery of 2 types of endometrial stem cells has changed our understanding of how endometrium grows and how abnormalities in this process lead to gynaecological disease. This project will characterise the role of endometrial stem cells in endometriosis and examine how endometrial mesenchymal stem cells can be used as a cell-based therapy for pelvic organ prolapse.
I am a human geneticist studying the genetics (molecular genetics and heredity) and variation of common complex human traits and disease, in particular, migraine and endometriosis.