A new statistical framework to understand the biological basis of Ankylosing Spondylitis and other complex diseases. Ankylosing Spondylitis (AS) is a highly heritable and common inflammatory arthritis which causes stiffness and progressive fusion of the spine, decreased quality of life and reduced lifespan. There is no known cure for the condition. This project aims to identify genes and biological pathways involved in AS pathogenesis using a new statistical framework that will be applied to tho ....A new statistical framework to understand the biological basis of Ankylosing Spondylitis and other complex diseases. Ankylosing Spondylitis (AS) is a highly heritable and common inflammatory arthritis which causes stiffness and progressive fusion of the spine, decreased quality of life and reduced lifespan. There is no known cure for the condition. This project aims to identify genes and biological pathways involved in AS pathogenesis using a new statistical framework that will be applied to thousands of individuals with the disease. This project will improve understanding of the underlying mechanisms involved in AS pathophysiology, inform development of new drug treatments for the condition, and create a powerful new statistical approach that can be used to identify biological pathways which are important in the pathogenesis of other complex diseases.Read moreRead less
Genomic Control of Human Complex Trait Variation. This project aims to address knowledge gaps in our understanding of the genetic and environmental control of complex human trait variation. This project will use innovative approaches that combine molecular genomic information with data from large biobank sized cohorts to generate new knowledge of the mechanisms underlying ancestral and sex differences in humans. Expected outcomes include the development of novel methods for the integrative analy ....Genomic Control of Human Complex Trait Variation. This project aims to address knowledge gaps in our understanding of the genetic and environmental control of complex human trait variation. This project will use innovative approaches that combine molecular genomic information with data from large biobank sized cohorts to generate new knowledge of the mechanisms underlying ancestral and sex differences in humans. Expected outcomes include the development of novel methods for the integrative analysis of genomic data and building Australia’s capacity in a highly demanded field, ensuring the capability to realise the translation of this knowledge to positively impact society and human well-being.Read moreRead less
Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.
Understanding the molecular mechanisms of intellectual disability. Intellectual disability is frequent in the population, with one in every fifty people in the world directly affected. This project will improve our understanding of the correct development and function of the brain required for cognition by investigating specific roles and regulation of key molecules involved.
Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres ....Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres on the development, refinement and application of novel statistical analysis methods in genetics. Future advances in statistical and computational methods are essential if we are to exploit the large volumes of genome data now being generated to help develop diagnostics and interventions to improve public health.Read moreRead less
Deciphering the genetic architecture of human complex traits. This project aims to develop statistical methods to integrate data from genetic studies of complex traits such as stature and cognition. Molecular phenotypes such as gene expression in large samples will be used to predict target genes and regulatory elements of those traits. Understanding the genetic basis of human complex traits is critical to longstanding questions in human and evolutionary biology. The project will also detect sig ....Deciphering the genetic architecture of human complex traits. This project aims to develop statistical methods to integrate data from genetic studies of complex traits such as stature and cognition. Molecular phenotypes such as gene expression in large samples will be used to predict target genes and regulatory elements of those traits. Understanding the genetic basis of human complex traits is critical to longstanding questions in human and evolutionary biology. The project will also detect signatures of natural selection in shaping the genetic variation in complex traits. The project will provide better understanding of complex traits in global populations and the history of human evolution, and will develop methods applicable in plant and animal contexts.Read moreRead less
Solving the puzzle of complex disease - genes and their interactions with the environment. Many human diseases are caused by the interplay of genetic predisposition (nature) and the environment (nurture); but their causes remain a mystery, since much past research has focused on these aspects in isolation. This project will aim to better understand these complex diseases using a multi-factorial approach that brings both nature and nurture together.
Complex trait analyses based on genome-wide approaches. This project aims to develop whole genome approaches that can improve the estimation and prediction power by using information from the dynamic genetic architecture of complex traits (i.e. the changes of genetic characteristics and effects when varying effective population size and genetic backgrounds). The project intends to deliver advanced statistical models, efficient algorithms and design by combining data from close relatives, populat ....Complex trait analyses based on genome-wide approaches. This project aims to develop whole genome approaches that can improve the estimation and prediction power by using information from the dynamic genetic architecture of complex traits (i.e. the changes of genetic characteristics and effects when varying effective population size and genetic backgrounds). The project intends to deliver advanced statistical models, efficient algorithms and design by combining data from close relatives, population samples or from different populations (e.g. multi-ethnicities or multi-breeds). The expected outcome is to better understand the dynamic architecture of complex traits and develop methods with improved power, precision and accuracy in genomic analyses.Read moreRead less