SCOTT SMITH
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Disease Now

"It's in my genes - my father had it, my grandfather had it - so I'll have it." These are the words of many who face diabetes or Huntington's disease, and more commonly heart disease. But brand new breakthroughs have been made in gene therapy and hopefully in the not-to-far future we will have reliable preventative cures.

We all know that genes are the blue print of life - they are what makes you you and someone else them. Since the first draft of the human genome was completed in June 2000 scientists have been able to take a much closer and educated look at how these differences work. It has been noted in many scientific circles that humans share about 99.5% of the same genes and the ones we don't share are the mutations - the private family "spelling mistakes" in the genome.

Presently the most practical and realistic interest in this mapped genome is its use for medicine. With the ability to look at sections of the genome scientists can pinpoint areas where the genes for hereditary diseases are. They can actually see the mutations on the relevant section of the chromosome and identify it using another family member without the disease as a comparison. "By being able to see them (the genes) we can fix them," says Hugh Watkins, Professor of Cardiovascular Medicine at the University of Oxford. With this valuable information, he says, scientists can start teasing out the secrets of health and disease at a molecular level.

"You can learn so much from gene hunting," says Watkins, "without it, you are mainly lost." But gene mapping or manipulation is not the direct answer to any medical questions, he says. The best is to tell what makes one person sick while others don't fall ill. And this is where the genome map comes in. One little gene can tell you so much. We can look into the genes and discover a whole new set of risk factors, says an excited Watkins. And once these areas causing the disease are pinpointed we can start making effective treatment to their condition, he includes.

This is the essence of biomedicine or tailor-made drugs. Both doctors and members of the public agree that medical drugs on the market are too general. Different people react to them differently so the drugs have a variable potency. If we can make specific drugs for the individual, based on the needs or defects of the person's genes then we eliminate much of the side affects and of course treat the sickness better, Watkins says.

Recent estimates believe that it could be as close as ten years and the public will start seeing definite signs of tampering and designer genes already surfacing in newborns. Adjusting the male sperm or the female egg (both is possible) in the lab, scientists can have the defective genes fixed before insemination. "But the most immediate uses will be medical ones, that is, to try and overcome hereditary diseases", says Valerie Corfield working at the South African Medical Research Council in Stellenbosch.

Corfield and her colleagues are the "gene hunters" and their mission is to find the mutations in the genes that cause the disease. "The hereditary disease is a mistake in the gene code or makeup," meaning there is a fault in the blueprint, says Corfield. And they try to correct that fault. Now with the second, more accurate, draft of the human genome published on 13 February 2001 their job is that little bit easier.

Corfield is mainly concerned by germ-line modification. This is the insertion of genes into embryos or germ cells - which are the eggs or sperm of the parents- so that these genes are inherited. By overloading the embryo with a correct version of the defective gene, taken from another family member, they hope it takes on these new characteristics. This could eradicate the gene permanently so future generations do not inherit the particular disease - nor allowing it to crop up again.

But I think we need to remember that, "new mutations will always crop up," says Corfield, and we need to take that into consideration before we go on any kind of rampage. It is conceivable that if it's possible to eradicate a disease then it is also possible to introduce new ones - probably by sparking new mutations. Just because a problematic gene is found doesn't mean we know what to do with it, "this is slow work…complex stuff," says Watkins. In reality the genome is not entirely understood and scientists still don't know how to read it properly.

We're not just going to go in there and start to copy and paste, laughs Corfield. Scientists need to be little more careful than that. Once information enters the protein it is very hard to get it out again - if at all possible. Humans may find themselves asking if they are still human at all in the near future. This is a real possibility and one that needs to be stretched and warmed up before the race is started.

For the moment, many scientists (and public) are objecting to gene tampering regardless of obvious benefits. And for good reason because we have this 3.5 billion-year text that we are only now beginning to read and already we want to improve on it. But such diseases are a hard pill to swallow if you are handed one. No one can deny the clear benefits in the war against hereditary diseases and both Corfield and Watkins support the new technology.