Epilepsy is a very common and serious brain disorder. Epilepsy often includes other disabilities, reduction in quality of life and is associated with increased risk of early death. 30% of people with epilepsy are unable to gain control of their seizures with currently available medications. The genetic causes of the large majority of epilepsy cases have not yet been found. This project aims to identify new genetic causes of epilepsy and its related disorders.
I aim to decipher the role of heritable, genetic DNA variation in human neurological disease. I will use next generation genomics technologies together with sophisticated cellular models to address the important questions of the biology of epilepsy and intellectual disability in particular. I aim to develop a treatment for a specific type of epilepsy, which affects only girls from the age of 6 months. My ultimate goal is to improve the life of the patients and their relatives.
The genetic material is packaged in the cell nucleus with histone proteins. Modifications of histones determine if a particular area of the genome is active or repressed. We are investigating the roles of a family of histone modifying proteins, the MYST proteins. Mutations in these proteins cause intellectual disability and cancer. The research program will provide knowledge that may become the basis for the development of drugs for the treatment of cancer and neurodegenerative disorders.
I am a Molecular Biologist who has built up a large set of transgenic animal models based around the NPY system to use them in an integrated physiology approach to investigate important regulatory mechanisms in the interaction of the brain with peripheral
High-Throughout Identification And Targeting Of New Breast Cancer Genes.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Recent studies have identified DNA sequence variations within the human genome that are associated with an increased risk or can influence the outcome of breast cancer. This research program will identify the key genes affecting cancer development and assess their contribution to cancer growth. I will then use this knowledge to assess their suitability for drug development. Understanding how our DNA contributes to breast cancer will provide new avenues for prevention or treatment.
Cancer is a genetic disease – it occurs because of genetic changes in the body that change how a cell grows, and because it occurs more often in people who have an inherited predisposition to cancer. My aim is to uncover more of the genetic events that give rise to cancer, particularly of the breast, ovary and stomach, so that we can identify people at high risk, and advice them accordingly, and also so that we can devise better treatments directed at particular genetic alterations.
Translation Of Genetic, Genomic And Transcriptomic Discoveries Into Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$638,517.00
Summary
This project will progress studies on genes affecting common diseases to clinical application. Specifically, I aim to (1) establish the basis for the association of the identified MS risk factors with MS susceptibility; (2) establish if the three MS blood immune types we have identified, which are tagged by MS susceptibility genes, and altered by MS therapy, predict clinical response to therapy; and (3) determine the effect of host genetic variation in response to therapy for HCV, HIV and flu.
The goal of this research is to improve outcomes for people at risk of becoming blind or visually impaired. The focus is on those who require a corneal transplant, or who suffer from inflammatory eye disease or painful disease of the ocular surface, on neonates with retinopathy of prematurity, or those with the eye disease, keratoconus. We will investigate new treatment options for eye diseases and will examine the evidence for the success of surgical and other therapeutic interventions.
Human Pigmentation Genetics, Melanocyte Biology And Skin Cancer
Funder
National Health and Medical Research Council
Funding Amount
$686,656.00
Summary
The fellowship application by A/Prof Sturm is to support his research into the biology of human skin, hair and eye colour, and the process of melanoma formation. His pivotal discoveries into the genetic basis of pigmentation and its regulation has provided an understanding of these physical traits and the associated genotypic risk factors for skin cancer development. The genes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of t ....The fellowship application by A/Prof Sturm is to support his research into the biology of human skin, hair and eye colour, and the process of melanoma formation. His pivotal discoveries into the genetic basis of pigmentation and its regulation has provided an understanding of these physical traits and the associated genotypic risk factors for skin cancer development. The genes that determine an individual's skin phototype and the mechanisms involved in the tanning response after UV-exposure of the skin are actively being investigated.Read moreRead less
Cancer is linked to mutations in a large variety of genes but how these changes impact on cell behaviour is often unknown. We are using functional genomics in zebrafish to identify genes that are essential for rapid rates of proliferation by intestinal epithelial cells. Seven genes have been cloned so far and our next task is to analyse, using mouse models and human cancer transcriptome analysis, whether any are indispensable for cancer growth and thereby present suitable targets for therapy.