I am a human geneticist studying the genetics (molecular genetics and heredity) and variation of common complex human traits and disease, in particular, migraine and endometriosis.
One Australian dies of Motor Neuron Disease (MND) every day. MND is likely to be due to a genetic susceptibility to an environmental agent such as a toxin or a virus. Recent advances in gene therapy have emphasised the urgent need to find the gene abnormalities in MND. We propose to set up an Australia-wide DNA Bank for MND to allow researchers to look for genetic abnormalities and environmental influences in this disease.
Genome-wide Association Study Of Migraine In Women With Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$320,036.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that affects people during their most productive years (25% of females and 7.5% of males). Women suffering endometriosis (a painful gynecologic disorder affecting up to 10% of women) are at an increased risk of suffering migraine headaches. Our proposed collection of migraine phenotype data on our endometriosis cohort will facilitate identification of genes underlying both disorders.
Cis Regulatory And Functional Analysis Of Genomic Loci With Implication In Hypothalamic Obesity Using The Zebrafish As A Model System
Funder
National Health and Medical Research Council
Funding Amount
$480,936.00
Summary
Gene regulatory mutations cause changes in gene activity (expression -level, -time, -site) and therefore decide about the availability of proteins. Regulatory mutations in uncharacterized genomic loci that are related to obesity and further their effects shall be identified, with emphasis on those affecting the hypothalamic food intake control circuits. Since the energy metabolism system and the obesity candidate genes are conserved, the model system zebrafish will be used for these analyses.
Novel Gene Identification And Characterisation In Epilepsy.
Funder
National Health and Medical Research Council
Funding Amount
$303,964.00
Summary
Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.
Heroin Dependence In WA: Identification Of Candidate Genes Involved In Susceptibility And Treatment Outcome
Funder
National Health and Medical Research Council
Funding Amount
$560,797.00
Summary
We will address identification of genetic factors which are important for the development of heroin addiction. In addition, we will correlate variation in genes involved in metabolism of heroin as well as the drugs used to treat heroin addiction with treatment outcome. Once these genetic factors are identified it will allow earlier intervention for treatment. In addition, it will allow identifying which treatment option might be most successful for the single individual.
Imaging Genetics In Schizophrenia And Bipolar Disorder: Adjudicating Neurocognitive Endophenotypes
Funder
National Health and Medical Research Council
Funding Amount
$569,873.00
Summary
Schizophrenia and bipolar disorder share some common genes and cognitive deficits, yet manifest differently in terms of symptom expression, illness course, and functional impact. This research tests the assertion that genes implicated as common to these conditions may code for impairments in prefrontal cognitive and sub-cortical emotion processing. We also examine whether between-diagnosis distinctions in these brain responses may be mediated by hypothalamic-pituitary-adrenal axis functioning.