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.
Elucidating the genetics of attention deficit hyperactivity disorder by integrating pathway and prediction analyses. Attention deficit hyperactivity disorder (ADHD) is the most common psychiatric disorder in children; while treatments are available they are ineffective for many patients. This project will develop methods for predicting genetic effects at the level of the biological mechanism to assist in identifying new drug targets and behavioural interventions.
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.
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.
Long noncoding RNAs and their regulatory roles in epigenetic control of gene expression in plants. Epigenetic control of gene expression plays a critical role in development, environmental adaptation, stress response and disease resistance in plants, but its molecular basis remains largely unknown. The proposed study should contribute to the emerging field of epigenetics by discovering new regulatory noncoding RNAs involved in epigenetic mechanisms in plants. These new discoveries could potentia ....Long noncoding RNAs and their regulatory roles in epigenetic control of gene expression in plants. Epigenetic control of gene expression plays a critical role in development, environmental adaptation, stress response and disease resistance in plants, but its molecular basis remains largely unknown. The proposed study should contribute to the emerging field of epigenetics by discovering new regulatory noncoding RNAs involved in epigenetic mechanisms in plants. These new discoveries could potentially provide new opportunities and platforms for improving the performance, yield and quality of crop plants. The proposed study is therefore consistent with the national research priority goals such as breakthrough science, frontier technologies and promoting an innovation culture.Read moreRead less
Engineering synthetic genetic codes. Large, high quality libraries of new drugs are absolutely essential resources to find new medicines. However, their use is restricted to a few pharmaceutical giants. We will engineer cells to make a wide variety of drug-like polymers, providing a drug discovery resource accessible to almost any scientific laboratory. As each cell could make a different polymer, billions of different potential drugs could be produced in a single tube. This technology provides ....Engineering synthetic genetic codes. Large, high quality libraries of new drugs are absolutely essential resources to find new medicines. However, their use is restricted to a few pharmaceutical giants. We will engineer cells to make a wide variety of drug-like polymers, providing a drug discovery resource accessible to almost any scientific laboratory. As each cell could make a different polymer, billions of different potential drugs could be produced in a single tube. This technology provides an opportunity to put the future of drug discovery in the hands of the wider scientific community and new tools for Australian industries.Read moreRead less
Genetical Genomics of Mutational Variance. Mutation is the ultimate source of all genetic variation. Understanding the nature of mutation, its frequency, the distribution of effects, and the forces of selection that remove mutational load from populations is therefore a central concern of genetics. The accumulation of mutational load both in endangered species and human populations, where the natural forces of selection tend not to operate, has the potential to create serious problems in these p ....Genetical Genomics of Mutational Variance. Mutation is the ultimate source of all genetic variation. Understanding the nature of mutation, its frequency, the distribution of effects, and the forces of selection that remove mutational load from populations is therefore a central concern of genetics. The accumulation of mutational load both in endangered species and human populations, where the natural forces of selection tend not to operate, has the potential to create serious problems in these populations. The goal is to understand what types of mutations are targeted by selection at the gene expression level and why.Read moreRead less
From causative genes to establishing therapies for patients with neuromuscular diseases. A major focus of this project will be pursuing multiple therapeutic approaches for a class of skeletal muscle diseases, which are most often severe and lethal within the first year of life. It will also hunt down the defective genes in human patients with other neuromuscular diseases and explore how these cause disease.
Inherited determinants of cancer aetiology. Family history of cancer is a strong risk factor for many cancers. This project will aim to identify inherited factors influencing risk of developing cancer and those factors influencing the course of the disease and outcomes.