Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.
Uncovering The Impact Of Tandem Repeat Variation On Both Common And Syndromic Forms Of Paediatric Obesity
Funder
National Health and Medical Research Council
Funding Amount
$619,622.00
Summary
We are currently in the middle of a world-wide obesity epidemic. While much of the increase in obesity prevalence is due to diet and a sedentary lifestyle, a significant proportion of risk of childhood obesity is thought to have a genetic basis. A proportion of our DNA consists of repeated DNA units, like a genetic stutter, and the number of repeats is variable in the population. We will measure the repeat number at repeats across the genome to search for changes associated with obesity.
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.
Using Next-generation Sequencing Technology To Identify Genetic Determinants Of Epilepsy And Sporadic Epilepsy Prognosis
Funder
National Health and Medical Research Council
Funding Amount
$322,282.00
Summary
Recent advances in high-throughput, next-generation, DNA sequencing allows biologists to simultaneously analyse the differences in thousands of different genes across affected and unaffected individuals. However, it produces an overwhelming amount of data and making sense of this deluge of data is a current challenge. Overcoming this challenge will enable scientific discoveries of pathogenic variants of disease, potentially providing an opportunity for targeted drug development.
Development of population-level algorithms for modelling genomic variation and its impact on cellular function in animals and plants. The purpose of this project is to develop mathematical and computational tools which will enable researchers to model high-throughput biological data at the population level. These models will be used to uncover the effect that genetic variation has on the physiology of the cell and the organism.