I am a clinician researcher. I am Co-director of the Bruce Lefroy Centre at Murdoch Children's Research Institute and the Director of Clinical Genetics at Austin Health. What does this mean? Basically, I try to identify questions through my clinical work, to answer them through research and then improve clinical practice through this process.
I study a disease called Friedreich ataxia. It is a terrible genetic condition which causes previously healthy people to become more and more uncoordinated (ataxia is the medical word for incoordination) ultimately requiring a wheelchair for mobility on average about 15 years after the onset of symptoms. Lifespan is markedly reduced largely due to weakened heart muscle with the average age at death being mid-30s. No treatments have been proven to slow the inexorable progression of Friedreich ataxia.
Friedreich ataxia is a recessive condition- that is, it occurs as a result of the affected individual having a double dose of a faulty gene. Both parents of people with the condition have a single faulty gene with the other copy being unaffected. A person only needs one unaffected gene to be healthy. Where both parents have a single faulty gene for Friedreich ataxia, there is a one in four chance for each child to have the condition and a three in four chance the child will not have it.
The faulty gene that causes Friedreich ataxia results in a reduced amount of a critical protein called frataxin. Frataxin is vital for the health of key cells in the nervous system and the heart. Where there is insufficient frataxin, these key cells die and result in the worsening symptoms.
Our team has been working for almost 20 years to understand how Friedreich ataxia affects people and what can be done to improve this situation. We have studied all aspects of the impact of the condition on the nervous system, the heart and the person as a whole. We have identified key areas of impact that can be treated to improve quality of life including vision, hearing, sleep and the benefits of rehabilitation to name a few.
Our laboratory research team found that a medication called resveratrol increases the amount of frataxin produced by cells. Resveratrol is a natural substance found in grapes and nuts and is also present in red wine. We have just completed a study where people with Friedreich ataxia were treated with resveratrol and found some indication of benefit. We are now planning a large study that will take place at a number of centres in Australia and USA to definitively answer the question as to whether resveratrol can slow the progression of this condition. A word of warning- if you are planning to replicate our findings by drinking red wine rather than taking tablets, you will need to drink 1,000 bottles per day to achieve the same dose of resveratrol!
Finally we have a team working on gene therapy for Friedreich ataxia. They are using viruses to introduce healthy copies of the gene to cells. The reason the virus isn’t dangerous to people treated by gene therapy is that the parts of the virus that can introduce healthy DNA to cells are retained whilst those parts of the virus that cause illness are removed. We hope that this research will ultimately lead to treatments that not only slow progression but reverse the effects of this disease.
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