Genetic Analysis Of De Novo And Inherited Exome Variation In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$1,351,522.00
Summary
Schizophrenia (SCZ) is a severe mental disorder affecting ~1% of the world’s population. The majority of risk is explained by genetic factors, and thus identifying susceptibility genes may lead to the development of novel therapeutics and personalised treatments. We will join forces with international collaborators to perform the largest DNA sequencing analysis of de novo and inherited protein-coding sequence variation in SCZ to date. We aim to identify key risk genes and genetic pathways.
Genetic Analysis Of The Relationship Between Parental Age And Risk Of Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$301,012.00
Summary
Age-related de novo mutations are widely assumed to explain the association between advanced paternal age and risk of psychiatric illness, but this mechanism cannot explain the known risk to offspring of teenaged parents. We will investigate an alternative hypothesis for risk to children due to parental age, which is that elevated liability to mental illness, arising from shared genetic factors between parents and offspring, leads to delayed, or conversely teenage, parenthood.
Understanding The Etiology Of Psychiatric Disorders Through Whole Genome Analyses
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Psychiatric disorders exert a huge social and economic burden on society. In recent years, large genetic studies have led to important new insights into these disorders. Major new human genomics resources will soon become available. My research will take advantage of these datasets to investigate the genetic basis of key epidemiological features of psychiatric disorders, including risk due to parental age and sex-biased prevalence, and to identify novel risk genes for schizophrenia and autism.
De Novo Mutations And The Pathogenesis Of Childhood-onset Autoimmune Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,406,510.00
Summary
This project aims to reveal the gene abnormalities that cause devastating autoimmune diseases to develop in some children, such as Type 1 diabetes, juvenile arthritis and autoimmune destruction of blood cells. The project will use new technologies to identify alterations in the DNA sequence of a child compared to either of their parents, and to test suspicious DNA alterations in laboratory mice in order to understand the gene effects and evaluate new treatments.
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
Integrating Immunity And Genetics In Follicular Lymphoma To Establish A Prognostic Score Fit For The Modern Era
Funder
National Health and Medical Research Council
Funding Amount
$1,377,174.00
Summary
Follicular lymphoma (FL) is divided into early and advanced stages. Early stage FL is frequently cured, but there is no way to identify who will be cured and who won't. By contrast advanced stage FL is incurable. Our unique access to well-annotated clinical trial and population based cohorts allows us to perform a detailed biological comparison of early and advanced FL, to gain a deeper understanding of the impediments to eradicating the disease, and to predict outcome to conventional therapy.
Regulation Of Cardiometabolic Disease By A Novel ATP Binding Cholesterol Transporter, ABCA8: A New Therapeutic Target?
Funder
National Health and Medical Research Council
Funding Amount
$316,585.00
Summary
Approximately 1.7 million Australians and 12% of the population in Singapore has type 2 diabetes (T2D). We have identified a cholesterol transporter, ABCA8, the absence of which produces symptoms similar to those seen in humans with T2D. The aim of this project is to understand the molecular basis of the diabetes symptoms in mice that do not have ABCA8 with a view to identifying this transporter as a drug target to reduce T2D and its complications, including heart attacks.