Discovering The Genetic Causes Of Congenital Heart Disease Using Systems Biology
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Congenital heart disease (CHD) affects one in one hundred live-born babies, representing a significant health burden in Australia and worldwide. My research team is using state-of-the-art DNA sequencing technology to sequence the entire genome of hundreds of patients with CHD and their family members. My research program develops fast and reliable computer software to accelerate the discovery of the genetic causes of CHD, and make personalised genome-based medicine a reality.
Using Systems Biology To Model And Predict Human Diseases
Funder
National Health and Medical Research Council
Funding Amount
$423,326.00
Summary
In the last decade, technological advances have driven the study of biology towards the statistical and computational sciences. Researchers are now able to differentiate and quantify biomolecules at levels previously unimaginable, allowing us to study their interactions and relationships to health and disease in an unbiased, systems-level manner. With expertise in bioinformatics, biostatistics and systems biology, I am uniquely placed to address these challenges.
The human genome project was a major advance, allowing for molecular foothold towards an understanding of human diseases. The question now is “what do these genes do, and how do they participate in human disease?” In my lab we are focused on this issue. We use whole genome, functional in vivo screening in the fruit fly to identify novel conserved disease genes, then we use human genetics data to focus on medically relevant candidates, finally we use knockout mice to functionally validate these n ....The human genome project was a major advance, allowing for molecular foothold towards an understanding of human diseases. The question now is “what do these genes do, and how do they participate in human disease?” In my lab we are focused on this issue. We use whole genome, functional in vivo screening in the fruit fly to identify novel conserved disease genes, then we use human genetics data to focus on medically relevant candidates, finally we use knockout mice to functionally validate these new genesRead moreRead less
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less
Integrating Statistical Imputation Of HLA And KIR Alleles Into Studies Of Disease In Diverse Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
Immune system genes are strongly implicated in many infectious and autoimmune diseases, as well as cancer. Some of these genes have many possible types due to natural selection in response to pathogens. This variability makes typing these genes very expensive. Developing accurate and inexpensive methods to type these genes is vital in understanding the role they play in susceptibility and progression of disease and will be important for the development of better diagnostic tests and treatments.
Functional Genomics-new Technologies For Gene Discovery And Personalised Medicine
Funder
National Health and Medical Research Council
Funding Amount
$452,122.00
Summary
Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of ....Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of disease.Read moreRead less
Lymphangiogenesis From Development To Disease: Analysis Of SOX18 Function In The Control Of Lymphatic Remodeling
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Cancers are lethal mainly because they spread (metastasise) to other parts of the body via blood vessels and lymphatic ducts. Pilot studies suggest that suppressing the function of a gene, SOX18, reduces tumour metastasis. We now propose to confirm these findings and study this effect in detail, with the ultimate aim of developing new therapies able to complement already existing anti-cancer treatments.