Genomics - Dr. Judy Ford

I'm a Geneticist, so I'm allowed to suggest that a lot of these ideas are really not where we should be going. I have been doing a lot of work on gene-environmental interactions and I see this as a critical way to be thinking and I would like to stop that motor that seems to be heading in this amazing direction as Adam was indicating. So I've decided today to take a particular medical condition, look at where we are with genetic engineering, where I think we could use it to great benefit and where I think that perhaps the line should be drawn.

If we look first at Alzheimer's. The first case of Alzheimer's came from a woman called Hannah, who was born in Latvia in 1844. She begat nine children and this was the first step in the condition known as early onset Alzheimer's. The more common Alzheimer's is not of this type, it's a slightly different gene but this is when Alzheimer's was first recognised.

Recently we've seen the film 'Iris' which I think is a good film for people to see when a person of great mental ability deteriorates before our eyes and for a film it certainly brings the issue to our mind. This is the way that I would like to see the arts bringing things before people. The sort of art that we are speaking about today is perhaps remote from a great deal of the population whereas movies and dramatic art is something that is reaching out to a much larger number of people in the community and I'd like to see this being used more and more to show the reality.

Anyhow, Alzheimer's is influenced by a specific gene and in particular a variant of that gene. It took genetic engineering techniques to actually identify this gene and this is the first step of something very valuable. The gene that is being investigated using these techniques, is shown to cause an increase in the stress response. The normal stress response produces a hormone called quarterzole but people who have the E4 gene actually over react to stress by producing larger amounts of quarterzole and quarterzole levels damage brain cells and in fact kill them. So the major effect of this gene is to produce high levels of quarterzole which kills off your own brain cells, leading to Alzheimer's.

(insert images)

Now this is what a normal brain looks like, this is one of these lovely new pictures that show blood flow. You can see that there's some fuzziness, some deterioration of form and this is what an Alzheimer's brain is like. The purple is where there is a great loss of cells and the brain nerve cells look something like this. This is a picture of a cell and it's the cell body that is killed. Now we've all been told for a long time that we start off with a certain number of brain cells and we don't make anymore and that if we drink alcohol it kills them. This is not true I have to tell you, alcohol merely shrivels those little processes at the ends of each cell but they can be regained. So there's hope for all of us (just thought I'd pass that on!). I've been learning a lot about nerve cells in the past few days.

The first thing that DNA technology can do is to identify people who carry that gene and the second is it can be used to discover the functions of the genes. Adam actually touched on this when he was talking about the way that we need to look at translation. We need to look at what genes do. At the moment all that has been done is something has been produced, rather like a telephone book that contains heaps and heaps of numerical information or alphabetical information but has no meaning. We really are just at the beginning. Where we need to put a lot of resources into in actually seeing how those genes are translated into the conditions that we observe. This is where I want to see money being put.

Now what might be the benefit of knowing if you carry the gene? Well, if in fact we can reveal how that gene in acts, then if posses it we should be able to take steps in our lifetime to prevent us from having the deleterious benefits or results of that particular gene. However right at the moment there might be great disadvantages. You may find yourself prejudiced against by insurance companies. You may not be able to insure yourself for health. People could otherwise ostracize you. You imagine your family sitting around and you're a normal middle aged person and you have just a random senior moment as they call it these days, and everyone says there's the gene, they've got the gene, they're predisposed and they're on the way and then they start making decisions around that. There could be considerable prejudice and we have to be concerned about whether people may be labelled in a way that will effect them negatively.

Now what else kills brain cells -it's not just having a gin. At the moment there's not a great deal of differentiation between results as to why some people get Alzheimer's and some people get Parkinson's. There are however a number of things that happen to you in life that can produce these conditions;

- The first one is severe stress. People who have post traumatic stress can lose up to 30% of their brain cells just from one single excessively stressful situation.

- Head injuries can do the same.

- Steroid drugs are being prescribed to people for all sorts of conditions but perhaps the most serious is childhood asthma. So we start giving children steroids which are killing off their brain cells, thereby compromising their life from the beginning and whether it be arthritis or asthma they will end up with Alzheimer's or Parkinson's disease regardless of genetic engineering.

- Use of amphetamines, the drug speed also kills off brain cells in a massive way

- Chemical exposure. I see a lot of people suffering from chemical exposure and occasionally help in their legal cases. I had a note from a man just the other day who has had 30% of his brain cells destroyed from exposure to solvents. Also we're driving round in cars with high levels of benzine and we're literally losing brain cells due to our environment, and finally

- Nutritional deficiencies. How obscure and bizarre it is that we are eating these foods which have no nutritional value and are inducing obesity.

So genetics aside, we are able to mimic these genes by any of our lifestyle choices and if we have the gene to start with then we may really be pushing ourselves to an early grave.

The other thing that influences Alzheimer's which is very interesting is our head size. Our head size is something that we are born with and if you have a small head size and you carry the Alzheimer's gene then you are much more likely to get the condition. Now unfortunately you can't do much about this because it goes back to your prenatal environment and if your mother did things that induces cell division during your conception then you can have a greater risk of Alzheimer's. One of the things that can actually influence that is eating chocolate - because in-utero it reduces the size of the baby's head.

Biotechnology has found that it can 'make' brain cells. Supposedly, human embryonic stem cells show similar patterns of differentiation to monkeys cells therefore human transplants might be possible within five years. Another fascinating discovery is with male Song Birds - every mating season the male birds have to learn a new song. The female leaves and then the male has to come up with a new song. To do this the male birds have to generate new brain cells. So mating songs trigger this process every season. So from that to finding that new nerve cells can also be made in humans.

However if we're stressed these processes will be inhibited but relaxation and meditation will not only reduce our risk of Parkinson's and Alzheimer's but increase generation of new cells. We don't know what all of the triggers are, one of them appears to be exercise. Rats made to run actually generate more brain cells. You'd be amazed that those joggers are actually generating more brain cells.

Is this sort of intervention necessary - the discussion should take place to determine funding priorities.

Now to put some negatives about genetic engineering - if we go down the cloning path there are probably unknown biological effects. In this area, there are all sorts of vested interests and commercial pressures leading to people trying to suppress new information for personal/corporate financial gain. This is fostering the 'fix it' rather than the 'prevent it' attitude. The 'preventive' attitude is a difficult one because it is not politically exciting. So there is the problem - it's got to come from a knowledgeable community. Of course unless we start living with preventative methods we are going to see an explosion in health costs and a decline in community health.

Consequently, I'm for using genetic engineering as a discovery tool to let us work out what the function of the various genes are and then use that with what we know so that we can adapt our own lifestyle to a particular gene or potential reality.

Thank you.

© Dr Judy Ford 2002