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Molecular genetics of complex diseases
Complex genetic disorders involve interactions between genes and the environment which are difficult to unravel with present technology but as the advances in technology and bioinformatics allow a better understanding of what is a gene and how genes respond to the environment, it will become possible to appreciate the relative roles played by genes and the environment in the common illnesses that are found in our community.. more...
Supervisor(s):
Research Location:
Program Type:
Keywords:
motor neuron disease, genetic heart diseases, cardiomyopathy, Gene, complex disease, SNP, Genetic disorders, Genes in biology & medicine
A model of genetic vulnerability to cannabis-induced psychosis
To study the impact of heterozygous deletion of a schizophrenia susceptibility gene (NRG1) on the acute and chronic neurobehavioural effects of cannabinoids.. more...
Supervisor(s):
Research Location:
Bosch Institute (Pharmacology)
Program Type:
PHD
Keywords:
Schizophrenia, Cancer, Psychosis, Addiction, Drug abuse, Pharmacology, Neuroscience, Cannabinoids, Transgenic mice models, Multidrug resistance, ABC transporters, Therapeutics & adverse drug effects, Behavioural & psychiatric disorders, Genes in biology & medicine, Neuroscience & psychology, Pharmacology & therapeutics
Unravelling signalling in eye development and the links to blinding disorders.
We have identified a mouse model of eye disease with an abnormality in a signalling pathway. This project will characterise the underlying pathological and molecular abnormalities using a combination of phenotypic analyses and gene expression studies.. more...
Supervisor(s):
Research Location:
Children's Medical Research Institute
Program Type:
PHD
Keywords:
Vision, Blindness, Cataracts, Glaucoma, Eye, Genetics, Microphthalmia, Development, Mouse models, Human mutations, Signalling, Hearing & vision problems, Infertility & developmental problems, Cell biology, Genes in biology & medicine, Reproduction & development, The senses
Protein defects causing Familial Hypertrophic Cardiomyopathy
This project uses biochemical and molecular biology techniques to study the molecular effects of genetic mutations on heart muscle function in the disease familial hypertrophic cardiomyopathy. more...
Supervisor(s):
Research Location:
Program Type:
Keywords:
Familial hypertrophic cardiomyopathy, Myosin binding protein-C, Heart muscle contraction, Cardiovascular & respiratory diseases, Genetic disorders, Cell biology, Genes in biology & medicine, Heart & circulation
Studying miRNA mediated effect on regulation of the MECP2 gene expression
In this project the possible role of microRNAs on the pathogenesis of Rett syndrome will be studied.. more...
Supervisor(s):
Christodoulou, John (Professor)
Research Location:
The Children's Hospital at Westmead Clinical School
Program Type:
Keywords:
Rett syndrome, X-linked disorders, mental retardation, neurodevelopment, brain, genetic disorder, neurogenetics, developmental brain disorders, methyl CpG-binding protein 2, MECP2, mutation, microRNA, pathogenic mechanisms, brain development, neural regulation, Brain & nervous system disorders, Genetic disorders, Infertility & developmental problems, Genes in biology & medicine, Neuroscience & psychology, Reproduction & development
Determining the functional significance of non-coding DNA variants in genes for complex traits involving gene-environmental interactions
To identify non-protein coding DNA changes in genes that interact with the environment using 2 models – sporadic amyotrophic lateral sclerosis for the vulnerability to environmental toxins and elite athletes for exercise-related hypoxic response using a combined in silico approach and cell culture experiment.. more...
Supervisor(s):
Research Location:
Program Type:
PHD
Keywords:
amyotrophic lateral sclerosis, elite endurance performance, motor neuron disease, Lou Gehrig’s disease, sports medicine, functional DNA variant, complex genetic traits, gene environment interaction, mRNA splicing, detoxification, hypoxic response, Brain & nervous system disorders, Genes in biology & medicine, Health & lifestyle, Heart & circulation, Human body, Neuroscience & psychology
Early signs of diabetes complications in childhood onset diabetes mellitus
Early signs of diabetes complications in childhood onset diabetes will focus on newer methods to assess heart rate variation, peripheral nerve function, colour vision and vascular changes.. more...
Supervisor(s):
Donaghue, Kim (Associate Professor)
Research Location:
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead Clinical School
Program Type:
PHD
Keywords:
Nephropathy, Plantar fascia thickness, diabetes, Obesity, Adolescence, Retinopathy, Heart rate variation, Microalbuminuria, Vascular health, Genetic susceptibility, Pupillometry, Liver & hormonal disorders, Human body
How stretch activated channels contribute to muscular dystrophy
In muscular dystrophy there is increased activity of stretch-activated channels; this project aims to understand how the resulting ionic changes lead to the damage to muscles. more...
Supervisor(s):
Research Location:
Program Type:
Masters/PHD
Keywords:
Duchenne muscular dystrophy, muscle damage, intracellular ions, mechanosensitive channels, Genetic disorders, Movement disorders, Cell biology, Movement
Molecular and cellular mechanisms in neuroinflammatory disease
Molecular genetic and functional genomic approaches will be used to determine how immune hormones termed cytokines and chemokines communicate with cells in the central nervous system to cause inflammation and injury.. more...
Supervisor(s):
Research Location:
School of Molecular and Microbial Biosciences
Program Type:
Keywords:
multiple sclerosis, Neuroimmunology, Autoimmune neurological disease e.g. multiple sclerosis, Neurovirology, Viral and bacterial encephalitis, Cytokine immunobiology, Neurodegeneration, Disease pathogenesis, Transgenics, Animal models of disease, Brain & nervous system disorders, Infectious diseases, Cell biology, Infection & immunity, Neuroscience & psychology
Novel inhalation formulation to improve quality of life of cystic fibrosis sufferers
The proposed research project aims to devise a novel dual-action aerosol formulation to be delivered directly to the site of the disease and that could be efficacious on both the major symptoms presents in cystic fibrosis patients: the build up of thick mucus and the bacterial inflammation.. more...
Supervisor(s):
Research Location:
Advanced Drug Delivery Group, Faculty of Pharmacy
Program Type:
N/A
Keywords:
Cystic fibrosis, Inhalation, Aerosols, Dry Powder Inhalers, Therapeutics & adverse drug effects, Cardiovascular & respiratory diseases, Chronic diseases & ageing, Genetic disorders, Infectious diseases, Genes in biology & medicine, Infection & immunity, Pharmacology & therapeutics, Respiration