Exploiting Sexual Differences In Germline Biology To Resolve The Causes Of Germline Mutation
Funder
National Health and Medical Research Council
Funding Amount
$315,914.00
Summary
Mutagenesis during the production of sex cells is a fundamental biological process and the cause of inherited human disorders. These disorders span the entire spectrum of diseases that have a genetic component, such as autoimmune diseases and cancers, therefore influencing all age groups. A better understanding of the mechanisms underlying this process is a priority since it is the essential knowledge required for understanding all of the factors that contribute to this array of debilitating dis ....Mutagenesis during the production of sex cells is a fundamental biological process and the cause of inherited human disorders. These disorders span the entire spectrum of diseases that have a genetic component, such as autoimmune diseases and cancers, therefore influencing all age groups. A better understanding of the mechanisms underlying this process is a priority since it is the essential knowledge required for understanding all of the factors that contribute to this array of debilitating diseases, and for devising effective preventative and diagnostic measures. To attain this understanding necessitates establishing the mechanistic origins of germline mutagenesis. Two basic approaches are employed to understand this process. The first assesses the incidence of mutation in pedigrees. This identifies the spectrum of risk mutations underlying the specific disease surveyed. Because other biological processes also influence these observations, the results from this approach do not reflect the underlying germline mutation spectra and are therefore not translatable between diseases. As mutations are rare events, it is prohibitive to obtain sufficient observations to resolve the underlying mechanisms. The second approach employs comparative genomic data, and uses differences in germline biology to estimate sex-biased effects. This comparative approach benefits from the accumulation of mutations over vast periods of time. The approach has not, however, been applied to diagnose the mechanistic origins of mutations. In this project, we will apply the enormous volume of comparative sequencing data to relate components of the mutagenic spectrum with sexual differences in germline biology. The project will differentiate between different types of mutations, and their association with specific processes will be established. The results will be a determination of the relative contributions of different mechanisms of mutation to germline mutagenesis.Read moreRead less
Methodological Research In Meta-analysis And Evidence Synthesis: An Evidence-based Methods Approach
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Systematic reviews synthesize available research to determine whether policy, health service delivery, public health, and clinical interventions are effective. Statistical methods underpin the validity of the findings in systematic reviews. This research will evaluate and develop statistical methods for systematic reviews with the aim of improving the quality of reviews and ensuring healthcare decisions are based on reliable research syntheses.
Nuclear structure and function in the nucleated planctomycete bacterium Gemmata obscuriglobus: a third cell plan for living organisms? The project will contribute knowledge of how cells such as those of animals and plants evolved from bacterial components. Origins of cell nuclei and pores in nuclear membranes will be studied via the simple eukaryote-like nucleus of the planctomycete Gemmata obscuriglobus, from Australian freshwater. Simple nuclear pore-like structures of G. obscuriglobus will he ....Nuclear structure and function in the nucleated planctomycete bacterium Gemmata obscuriglobus: a third cell plan for living organisms? The project will contribute knowledge of how cells such as those of animals and plants evolved from bacterial components. Origins of cell nuclei and pores in nuclear membranes will be studied via the simple eukaryote-like nucleus of the planctomycete Gemmata obscuriglobus, from Australian freshwater. Simple nuclear pore-like structures of G. obscuriglobus will help understanding nucleus function in animal cells, and such pores will give insight into 'minimal' composition needed for cell nuclei, and allow design of biological nanopores. The origin of the nucleus is a major problem in biology, and an Australian contribution to its solution will achieve international recognition. Read moreRead less
Child Disability:understanding Determinants And Improving Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$697,605.00
Summary
The overall goals of my research are: to learn more about the causes of developmental disorders so that we can either prevent them occurring, or develop effective treatments for them; to improve the understanding, diagnosis and management of rare genetic disorders by developing and maintaining registers and by collaborating internationally; and to investigate the impact of rare and common developmental disorders on the health and quality of life of the affected child and their family.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0344009
Funder
Australian Research Council
Funding Amount
$300,000.00
Summary
South Australian Regional Facility for Molecular Evolution and Ecology. Adelaide and Flinders Universities and their partners, the South Australian Museum and the South Australian Research and Development Institute, seek to enhance the throughput and efficiency of molecular genotyping for the large amount of research undertaken in Adelaide in the general areas of molecular evolution and ecology, and to enhance long-term storage and accessibility of the valuable biological materials used for geno ....South Australian Regional Facility for Molecular Evolution and Ecology. Adelaide and Flinders Universities and their partners, the South Australian Museum and the South Australian Research and Development Institute, seek to enhance the throughput and efficiency of molecular genotyping for the large amount of research undertaken in Adelaide in the general areas of molecular evolution and ecology, and to enhance long-term storage and accessibility of the valuable biological materials used for genotyping. This will be achieved by developing a new fully integrated, jointly managed regional facility, that serves all relevant research groups in South Australia.Read moreRead less
The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are ....The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are they related to each other? How is biodiversity changing? The answers to these questions and the new analytical tools we will develop will put Australia firmly on the international "map" of Bioinformatics.Read moreRead less
Sociocultural Determinants Of Childrens Oral Health From Refugee And Migrant Communities
Funder
National Health and Medical Research Council
Funding Amount
$57,342.00
Summary
Refugee and migrant children experience significantly poorer oral health than the non-migrant population. Factors that impact on poor oral health include perceptions of tap water safety, dietary changes, access to prevention and treatment health services, and language barriers. This study will explore reasons for these factors and potential solutions. Communities involved are those which have arrived the most recently and those with large numbers of young children.