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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):

Trent, Ron (Professor)

Research Location:

Bosch Institute

Program Type:


Keywords:

motor neuron disease, genetic heart diseases, cardiomyopathy, Gene, complex disease, SNP, Genetic disorders, Genes in biology & medicine

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):

Jamieson, Robyn (Dr)

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):

Hambly, Brett (Dr)

Research Location:

Bosch Institute (Pathology)

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

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):

Allen, David (Professor)

Research Location:

Bosch Institute (Physiology)

Program Type:

Masters/PHD

Keywords:

Duchenne muscular dystrophy, muscle damage, intracellular ions, mechanosensitive channels, Genetic disorders, Movement disorders, Cell biology, Movement

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):

Traini, Daniela (Dr)

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