Monday, June 28, 2010

Censored on Autism Genome Project Phase 2

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  1. Posted at AoA on June 28, 2010 at 9:00am (EDT)

    PART I
    @Katie Wright

    The gene study is a step toward understanding the basic physiological causes/contributions to autism. True, the media has generally spun genetic research as being the "bestest, most awesomest" of breakthroughs, and early speculation on the usefulness of it was overblown.

    That is not to say, though, that genetic research is not useful. We go in with an expectation - disease X is cause by genes Y and Z, for example. What we find, though, is that it is much more complex. Instead of only genes Y and Z, we find that genes A-X are also implicated somehow, but our research hasn't revealed in what manner.

    If you think about it for a moment, there are thousands upon thousands of genes that encode the development and functioning of the human body. Very likely, the genetic aspect of autism is going to be connected to a complex interaction of many different genes, and, because autism covers such a broad range of "types" (for lack of a better word), genes that contribute to some portion of the autism population will not necessarily contribute to all of the population.

    I can understand the desire to have answers now. Depending on the severity of the ASD, it can be extremely difficult emotionally (not to mention physically and financially), so it is only natural to want not just an explanation of "why", but also to have a cure, something to make the pain and hardship go away. Unfortunately, science progresses in fits and starts, sometimes making brilliant leaps forward, but more often creeping along slowly, with many, many dead-ends, surprises and avenues that twist and turn where a straight road was expected.

    We know that there is a genetic link. Studies looking at the genome, such as the study you mention, demonstrate this link, as well as studies examining autism rates in twins (identical vs. paternal). There are also studies on families that find a greater risk of autism if other family members (parents, grandparents, etc.) have an ASD. There is strong evidence of a genetic basis for autism, which should be elucidated, not swept under the rug because it is taking too long.

    As to epigenetic causes, I'm curious why you say "not parental age" as something to research? There have been several studies that have found a positive link between parental age and ASDs. Why shouldn't we study that further?

    Finally, while the scientific progress has been slow, we do know some causes of autism: Fragile X (a genetic cause) and rubella in pregnant women. As far as I know, Fragile X cannot be prevented or corrected with current technology. Rubella, however, can be prevented. The rest of the causes of ASDs need to be ferreted out by research, including genetic research to identify those genes involved.


    Basic research is vital to the understanding and treatment of autism, since without it, we will not have the basis for breakthrough applications. To use an example from Carl Sagan: the individual who discovered, through basic science research, the wave-like properties of electromagnetism, set the groundwork for future applications: radio, television, radar, satellites, the internet you use right now. Without that basic research, none of those things would have come to pass. We would still be writing letters by hand and waiting for days, weeks or even months for the courier(s) to bring them to their destinations. We might have cars, but there would be no air travel. Transport by ship would be far more dangerous than it is now. Information would be hard to find and take weeks or months of searching, instead of the minutes or hours it takes now, thanks to the internet.

    To sum up, science takes time and, though painful to deal with, we must accept that fact. Definitely, we can call for scientists to work faster, to do more, but the natural processes involved (cultures only grow so fast, for example) may not heed our demands. In the face of this, coupled with the uncertainty inherent in scientific inquiry, the temptation is great, indeed, to latch onto those things which give us a sense of understanding or control. In the autism world, vaccines are an easy thing to blame, in spite of the evidence to the contrary. Quack medicine peddlers make easy prey of the parents despereate for something, anything to fix their child. When hope is offered, the blinders creep up to block out anything which disconfirms our desires. It is in those moments that we must ask the hard questions and do our best to remove our own biases as we examine the evidence. The genetic research may be slow, but it is, at present, one of the most promising avenues of study. To do away with it would be foolhardy.


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