Post-GWAS Functional Characterisation Of Breast Cancer Susceptibility Loci
Funder
National Health and Medical Research Council
Funding Amount
$764,632.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
Editing Beneficial Single Nucleotide Polymorphisms Into The Genome: A New Approach To Genetic Disease
Funder
National Health and Medical Research Council
Funding Amount
$646,979.00
Summary
?-thalassaemia and sickle cell anaemia are red blood cell diseases caused by deficiencies in adult ?-globin, a component of oxygen-carrying haemoglobin. Interestingly there is a rare group of patients whose symptoms are reduced by naturally occurring mutations that upregulate another globin gene to compensate for defective ?-globin. We are investigating how these beneficial mutations elevate globin levels with a view to engineering them into cells of affected patients to treat these disorders.
High-throughput Identification And Evaluation Of New Breast Cancer Genes From GWAS.
Funder
National Health and Medical Research Council
Funding Amount
$841,075.00
Summary
Recent studies have identified DNA markers within the human genome that are associated with an increased risk of breast cancer. Most of these markers are located in noncoding regions, therefore the key genes driving risk are not known. This proposal will identify the target genes at all breast cancer risk regions and assess how specific markers affect disease risk. Understanding how DNA variation contributes to breast cancer will provide new avenues for prevention or treatment.
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.
Hypothalamic Regulation Of Appetite And Energy Homeostasis In Prader-Willi Syndrome.
Funder
National Health and Medical Research Council
Funding Amount
$39,987.00
Summary
Prader-Willi syndrome (PWS) is a genetic disease affecting 1/~15 000 people. It causes insatiable appetite and often morbid obesity, as well as other developmental problems. It is thought that there is a defect in the way that the brain regulates eating behaviour in PWS, but the exact mechanism is still unknown. This study proposes to explore metabolic and genetic factors contributing to the appetite disorder in PWS. It will also explore new ways of treating excessive appetite.
As a molecular geneticist, I am interested in how and why genetic mutations occur, how these changes cause disease or disease predisposition, and ways of better treating and monitoring genetic disease. The ‘model diseases’ I am most interested in are blood cell diseases such as autoimmunity (e.g. arthritis) and leukaemias.