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News
One of our major sponsors is Compass Expeditions.
So if you are looking for a holiday with a difference then follow the link.
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Date: 21 - 22 May -
Photography Exhibition: Wesley Misson, Ann St, Brisbane Click on the image to read how sucessful this was.
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Documentary release:
Our documentary was released February 2010. This has been created to raise awareness. Click on the image to read more about it. 
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Go the TAN
February I pushed the wheelchair the 3.8kms around 'the TAN' - the botanic gardens in Melbourne to raise funds for FA research..
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Mick's Book
Mick is a special mate and was my driver for an overland I did through South America. He and 3 of his mates rode motorbikes from London to Vladivostok and raised alot of money. This is the story of that ride. Click on the picture for more info. |
The Genetics
THE GENETICS - Friedreich's Ataxia, 5 years later: Better Understanding, New Hope
Pierre Rustin, PhD, Paris
The discovery in 1996 of the gene that is responsible for Friedreich's ataxia, the so-called frataxin gene, was a real breakthrough in the research of this disease. There are thousands of genes (about 40,000) in the nucleus of every single cell that, all together, constitute the human body. each gene is present in two copies per cell, one inherited from the mother and the other pne from the father. At a closer examination, a gene consists of thousands of four basic components - the famous bases, A, T, G, C - the precise sequence of which contains a given message. These many messages are necessary for the cell to manufacture its various components. The abnormality of the gene observed in most patients with this disease consists of a long repitition of a three-letter sequence (GAA repeats), which hampers the normal reading of the message of this gene. This overlong sequence of repeats is present on one copy of the gene in about 1 in 90 people, but two abnormal copies are necessary to develop the disease. Such a condition is called a recessive disease (dominant diseases are those which happen even when only one copy of the gene is abnormal). In other words, if two persons, having each one copy of this long sequence in the frataxin gene, have a child, there is a 25% probability that the child will receive two copies of this abnormal gene and develop the disease. Notice that the probability is unchanged for each new baby, whatever the status of the other child may be. However, the possibility to examinee the genes of the foetus now allow offering prenatal diagnosis of this condition to the family.
The frataxin gene is necessary to manufacture frataxin, one of the cell proteins. There are several kinds of proteins in a cell, but some of them, including frataxin, could be compared to workers in a city; they build, transform, and fix the cell during its life. In the cells from Freidreich's Ataxia patients there is not enough frataxin (because of the difficulty to read the message of the gene) and, as a result, the function of frataxin is poorly ensured, and some cell types, neurons and heart cells in particular, do not like that at all.
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