Genetics To Function: Identifying Genes Mediating The Biological Effects Of Type 2 Diabetes GWAS SNPs
Funder
National Health and Medical Research Council
Funding Amount
$438,075.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply an innovative approach to accelerate the latest genetic discoveries in diabetes to understand the mechanism behind the disease process. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Determining Shared Genetic Control Of RNA Transcription Across 45 Human Tissue Types
Funder
National Health and Medical Research Council
Funding Amount
$264,684.00
Summary
There is strong evidence that much of the genetic susceptibility to disease acts through altering way genes are turned into proteins via RNA transcripts. One important problem in using transcriptomic data to study diseases is that the genetic control of RNA transcription is known to vary between tissues. This study will use new methods and RNA data from 45 human tissues to show the degree of common genetic control for each RNA transcript between each pair of tissues.
Neural And Genetic Predictors Of Response To Exposure Therapy In Posttraumatic Stress Disorder
Funder
National Health and Medical Research Council
Funding Amount
$391,295.00
Summary
This project aims to identify neural and genetic predictors of treatment response in Posttraumatic Stress Disorder (PTSD). Exposure therapy is the most effective treatment for PTSD, but it is resource intensive and expensive and only 40% of patients respond. By identifying predictors of treatment response, this will allow us to identify at-risk patients and provide more intensive treatmentt prior to engaging in exposure therapy.
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 a combined state-of-the-art genetics approaches in fruit flies, mice, rats, and humans, to identify and validate new genes that contribute to chronic pain, with the clear long term possibility to develop new strategic therapies to treat chronic pain 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.
Methods And Software Tool For Complex Trait Analyses Using Multi-omics Data
Funder
National Health and Medical Research Council
Funding Amount
$573,999.00
Summary
This project aims to develop methods to disentangle the contribution of people’s difference in DNA sequence, DNA methylation, and gene expression to their difference in characteristics (including risks to diseases), and to utilise these information to predict disease risks of different people. This project also aims to develop a versatile and efficient computer software to implement the methods being proposed in this project, as well as all other commonly used methods in the research community.
Identifying Mitochondrial Genome Variants Associated With Familial Migraine Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$443,273.00
Summary
New therapeutic targets for migraine are desperately needed. Although studies have identified some migraine genes there remains considerable underlying genetic variation to be characterised. This study aims to identify functional variants in the mitochondrial genome that contribute to migraine susceptibility, utilising the isolated Norfolk Island population. Outcomes will determine the significance of the variants identified, potentially leading to new diagnostics.
Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.
The Molecular And Biological Roles Of Growth Inhibiting Chromatin Binding Proteins
Funder
National Health and Medical Research Council
Funding Amount
$814,843.00
Summary
Our previous work has led to the identification of mutations underlying human birth defects. Similarly, our proposed work will identify a new gene as potentially mutated in human heart defects. We will determine its overlapping functions with a related gene and elucidate their roles in embryonic development and cancer.
Statistical Analyses Of Whole Genome Genotype Data To Better Understand Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$543,755.00
Summary
Until now, determining an overlapping genetic aetiology between disorders, required large study cohorts of family records. Here we will use genome-wide genotypes available on independent case-control samples to estimate a shared genetic aetiology directly from the molecular data. In this way we will explore previously intractable questions, such as the relationship between rheumatoid arthritis in people with schizophrenia, a well-recognised epidemiological puzzle.