Genetic Health Research (Bruce Lefroy Centre)

Selected projects

Project 1:  Community Genetics

Screening
We are evaluating how carrier testing for genetic conditions that may affect the offspring of individuals is offered to the community.  This includes assessments of screening programs for cystic fibrosis, Tay Sachs disease and thalassaemia. We are also studying the screening for haemochromatosis in high school students in a program called ironXS (http://www.ironxs.com.au)

Ethics

The recent explosion in genetic knowledge has created controversial ethical debates. The following projects aim to gather evidence to inform policy.

Genetic selection for deafness
This study aims to document the views of hearing individuals who have deaf parents about genetic selection for deafness.

Predictive genetic testing in minors
Individuals with a family history of late-onset disorders such as Huntington disease and breast cancer can have testing to predict whether or not they will develop the condition in the future. Guidelines recommend against predictive testing in minors. This project studies the experiences of young people, to provide data to inform evidence-based guidelines.

Project 2:  Friedreich Ataxia

Friedreich ataxia is a severe neurodegenerative condition. Research consists of both a clinical arm and a laboratory arm. The teams work together integrating both laboratory and clinical facets.

Clinical Research

We are investigating therapies for people affected by this condition. This is being done in the setting of a Dedicated Friedreich Ataxia Clinic {http://www.fara.org.au} and involves several collaborations both nationally and internationally.
Projects include:

• Assessment of scales and other outcome measures for use in clinical trials
• Assessment of vision and eye movements, analysis of speech, assessment of heart function, assessment of hearing, assessment of cognition, upper limb function and functional MRI studies, clinical trials of pharmaceuticals including deferiprone
  

Laboratory Research

Projects include:

• Development of genomic reporter assays to enable high throughput screening of pharmacological agents and to study gene regulation and pharmaceutical evaluation in a whole animal model
• Analysis of regulatory mechanisms of FXN gene expression utilising comparative genomics, genomic reporters and small plasmid reporter constructs
• Development of accurate ‘humanised’ mouse models of Friedreich ataxia
• Evaluation of the molecular and epigenetic alterations in Friedreich ataxia
• Development and characterisation of lentiviral vectors for gene therapy of Friedreich ataxia
  
  

Project 3:  Neurogenetics

Complex disorders of the brain constitute one of the largest health, economic and social burdens in the developed world. These disorders affect both the young and elderly and typically are chronic and debilitating. The ultimate goal of our research is to develop therapeutic strategies to prevent or delay disease development and progression.

Parkinson Disease 

Parkinson’s disease (PD) is a common age-associated degenerative disease. We are investigating the function of several genes involved in Parkinson’s disease by determining when and where the genes are expressed in the brain. 

Dystonia

The dystonias are a group of relatively common neurological movement disorders that generally manifest during childhood and early adulthood. We are interested in determining how a mutation of the torsinA gene results in dystonia utilising cell culture models and patient samples.

Huntington Disease

Huntington disease is a devastating genetic disease of the brain. We are investigating whether lifestyle factors affect the age of onset of symptoms. Our study, involving 154 individuals in Australia and New Zealand, suggests that indeed a delay in onset of several years may be attained by adopting an active lifestyle. We are establishing an international collaboration to replicate this study in a larger population.

Genetics of Brain Development 

Project 4:  Master of Health Sciences (Genetic Counselling)

The Masters (MHSc) is offered to students who have completed the Graduate Diploma in Genetic Counselling. It is a one year supervised research masters, involving original student research with a 30,000 word thesis (http://www.paediatrics.unimelb.edu.au/rhd/master.html).

Over the past few years we have had several students enrolled who have produced diverse and important research using both qualitative and quantitative methodology. This research includes: experiences of parents at the time of diagnosis, developing models of counselling for people who have an intersex condition, the experiences of men with cancer.