Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
Schizophrenia Under The Genomic Lens: Next Generation Sequencing Of Western Australian Families With Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$991,659.00
Summary
We will perform whole genome sequencing of 376 members of 88 Western Australian families, including 113 individuals with a diagnosis of schizophrenia. We will use the sequence data to conduct a gene-cenric analysis of rare genomic variants likely to contribute to schizophrenia risk in these families.
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.
Attention deficit hyperactivity disorde(ADHD) is the most prevalent mental disorder of childhood affecting around 7.5% of Australian school age children. The disorder is strongly genetic and causes significant impairments in academic functioning, family and peer relations with sufferers at increased risk for drug abuse. Identification and characterisation of rare mutations will enhance our knowledge of the neurobiology and advance the search for next generation drug treatments for the disorder.
Osteoporosis is the commonest metabolic bone disease worldwide, and costs Australia >1% of GDP. It is a strongly inherited disease. We recently completed a genome-wide association study in 2000 postmenopausal women with either very high or very low bone density, and identified many genes contributing to BMD. The current study aims to use next-generation sequencing to study these women in greater genetic depth, aiming to identify more clearly the exact genetic determinants of bone mass.
Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes
Funder
National Health and Medical Research Council
Funding Amount
$436,367.00
Summary
Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
In the study of common disease, it is becoming apparent that it is not only an individual's DNA sequence that can encode susceptibility to disease, but also chemical modifications to that sequence. Despite the importance of these chemical modifications in the development of disease, there has been no comprehensive survey of the extent which they are transmitted across generations in humans. This proposal will investigate how one of those modifications, DNA methylation, is inherited.
Pain Systems Analysis Highlights PI3K Gamma As A Candidate Regulator Of Nociception.
Funder
National Health and Medical Research Council
Funding Amount
$461,810.00
Summary
Chronic pain will affect most of us at one point in our life, and there is a need for new drugs to manage this condition. The goal of this project is to use our computer modeling of genetic data from multiple species to predict new drug targets, and then use mouse models to look at the mechanism of action for predicted drug targets, and validate one potential drug target in particular for its therapeutic abilities to stop chronic pain.
Statistical Issues In The Analysis Of Host-viral Genetic Associations
Funder
National Health and Medical Research Council
Funding Amount
$252,849.00
Summary
Viruses such as HIV or Hepatitis B or C may escape detection, and hence control, by the human host immune system through strategic mutations. This project aims to develop statistical methodologies which will facilitate determination of the locations of these strategic mutations and assess the relative impact of different human-host genetic characteristics. Application of the results should benefit the design of tailored vaccines and studies of drug resistance.