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.
Genomic Risk Of Coeliac Disease In First-degree Relatives
Funder
National Health and Medical Research Council
Funding Amount
$631,757.00
Summary
Coeliac disease is a common and strongly genetically determined inflammatory disorder triggered by gluten exposure. Because of its substantial genetic component, familial risk is substantial yet currently the actual risk is poorly quantified. We aim to use genomic profiling to construct and validate a novel risk score which can accurately determine which family members of coeliac disease cases are most at risk themselves.
Gene Discovery In Motor Neuron Disease Through Systems Genomics
Funder
National Health and Medical Research Council
Funding Amount
$938,932.00
Summary
Motor neuron disease (MND) is an adult-onset, rapidly progressive neurodegenerative disorder that leads to paralysis and death, typically within 2 to 5 years of first symptoms. More than 85% of cases do not harbour known MND mutations. This proposal exploits genome-wide genetic and epigenetic profiling methods and leverages across multiple existing genomic resources to discover genes and functional pathways that contribute to MND pathogenesis and progression.