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The promise of genetics and autism

Will genetic research lead to cures for some kinds of autism?

This summer, the Autism Genome Project announced the discovery of several new genes that are implicated in autism. Their report is the culmination of a study that compared genetic data from 1,000 people with autism to a slightly larger number of non-autistic controls. The results are fascinating.

The first interesting discovery is that a significant number of genetic errors in the autistic subjects were not present at all in their parents. Scientists call these spontaneous occurrences "de novo." Are de novo errors a result of environmental factors that affected the developing fetus, or are they caused by an inheritance mechanism that we just don't understand yet? We don't know, but many scientists are working to answer this question right now.

Researchers have now identified a number of genes that are implicated in autism. Some of them are also implicated in other conditions, like intellectual disability. That leads scientists to the realization that a number of psychiatric conditions may have similar biological foundations.

The genes implicated in autism affect us in very different ways. Some genes change the balance of gray and white matter in our brains. Others affect the way our brain cells signal each other. Others affect the rate at which our brains grow and develop. Even if the observed result - an autistic person - looks similar, the biological causes of disability are not the same at all. We're beginning to realize that autism is really a catchall phrase for a number of brain differences that happen to look similar when seen from the outside.

What does that mean for the concept of neurodiversity; the idea that autistic people should be accepted but not "fixed?"

For one thing, it may explain why some autistic people have a combination of gifts and disabilities, while others are seen or see themselves as disabled; the underlying cause of their particular autism has conferred no discernable benefit. The autistic population may indeed consist of several distinctly different subgroups.

One group may indeed be best left alone. They can make great contributions to society vie their unique way of thinking. At the same time, we have another population who is profoundly disabled and in need of substantial help. If those two groups are separated by fundamental genetic differences it's no surprise they would have totally different treatment or accommodation needs.

One group consists of people who are stable and potentially successful despite being "different." Those folks need accommodation, behavioral counseling, and societal support. The other group is indeed in search of a cure for something that provides them no benefit and a substantial measure of disability.

So is a cure for those people on the horizon? Is that where this genetic research is leading?

The answer is . . . maybe, and we hope so.

We have made a huge step by learning that certain genetic defects cause profound autistic disability. What we need to figure out now is how to help the affected population. So far, we do not know how to repair damaged genetic data; we can only treat the results. For example, if a particular genetic defect causes the body to make too much or too little of a particular chemical the brain needs to function, we may be able to fix that situation with medication.

There is tremendous promise but we have a long way to go.

The biggest complication is that we have so many different genetic problems to deal with. Even though they produce a similar outcome - autism - they work in very different ways at a biological level. None of the "autism genes" we identified so far are present in more than one to two percent of the autistic population. There is no such thing as a single "autism gene." Rather, there are many genes that push us toward autistic outcomes when they go wrong.

That means we may have to develop ten or even a hundred different treatment strategies, to address the multitude of genetic errors that lead to autism. How do we begin?

Genetic testing may allow us to identify babies with gene defects that will lead to autism before their brains have developed on the autistic pathway. If we intervene early enough, we may be able to head off autism in those children. How would we do that? We might use drugs to speed or slow development, or replace chemicals the baby is not making for himself. We might use new therapies like TMS to change plasticity in the developing brain. There is tremendous promise, especially in the case of genetic errors that lead to the most severe autism.

In my earlier writing I have discussed the philosophical issues that surround treatment of autism in children. I used the example of a kid who was a social cripple, friendless; but a computer genius. If we had a treatment to turn on social awareness for that child, should we do it? He would surely be happier, but at what cost? Would we be turning the future Einstein or Newton into a jolly friendly sales manager? What are the ethical and social implications of such a power?

That remains a valid question at the upper end of the autism spectrum. However, those kids won't have the genetic errors that lead to profound disability. If we treat children who have a genetic abnormality that leads to an IQ or 50 and total disability, we do not make any ethical tradeoff at the other end of the range. Instead, we give a child who might have grown up crippled a chance to develop reasonably normally.

There are plenty of "good sides" to autism like mine. That's why I don't want a "cure" for myself. At the same time, I recognize the autism spectrum is very broad, and people at different points on it may feel very differently, as might their parents. If people like me represent one extreme of the spectrum, the other end comprises significant disability. There is no good side to a rare genetic defect that results in an autistic child who can't talk or take care of himself. An IQ of 50 does not confer any hidden benefit; it's crippling, pure and simple. The ability to tell our different forms of autism apart will open the door to many treatment options in years to come. Plenty of gifted autistics will choose to stay as they are, but we all share a duty to those who want help. The promise of using genetic knowledge to head off the most severe autism in infancy is tremendously exciting to me, and to many researchers in the field.

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I am an autistic person who serves on review boards for the National Institutes of Mental Health and Autism Speaks, the two largest sources of autism research funding. In my work on the scientific review boards, I seek to advance science that offers hope for improving the lives of today's autistic population, and the as-yet-unborn population to come. Genetic research is a poorly understood and controversial area of autism study; one I hope to elucidate a bit more clearly with these writings.

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