The New York Times today had a great grounded piece on the state of our knowledge into schizophrenia, a relatively uncommon mental disorder (that gets a lot of attention more because of its severity, not because of its prevalence). The reality is that after hundreds of research studies into the biology and genetics of schizophrenia, all signs point to the fact that schizophrenia may be caused by thousands of rare gene variants. In other words, if you have one of these rare gene variants, you would be at greater risk for the disorder.

Of course, the problem with this is that there are only limited ways the pharmaceutical industry can help if this is the case (notwithstanding one of the researchers’ quotes in the article). In fact, if the disorder is caused by thousands of different gene variants, there may be some real challenges in developing treatments based upon this understanding. In comparison, today’s pharmaceutical treatments could be see as the over-the-counter medications you can take to treat a cold — they help with the symptoms, but do little for the underlying disease (which we still can’t treat!).

The frustration amongst schizophrenia researchers has been building for decades:

The search for common variants in schizophrenia, however, has not been very successful so far, though that is not for want of trying. There have been more than a thousand studies, implicating 3,608 genetic variants. But when all the data are pooled, only 24 of these turn out to be statistically significant, according to an analysis in the July issue of Nature Genetics by a group led by Dr. Lars Bertram of the Massachusetts General Hospital.

The good news is that good ol’ natural human biology does a fairly reliable job of removing these gene variants. It seems like it just doesn’t get them all.

The new focus on rare mutations suggests that natural selection is highly efficient at removing schizophrenia-causing genes from the population. Despite selection against the disease, according to this new idea, schizophrenia continues to appear because it is driven by a spate of new mutations that occur all the time in the population.

The latest research which confirms this research trend was published today in Nature. It means that the specific causes of schizophrenia will remain an elusive question for years to come.

Read the full article: Gene-Hunters Find Hope and Hurdles in Schizophrenia Studies



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    Last reviewed: By John M. Grohol, Psy.D. on 30 Jul 2008
    Published on All rights reserved.

APA Reference
Grohol, J. (2008). What Causes Schizophrenia? Maybe Rare Gene Variants. Psych Central. Retrieved on February 1, 2015, from


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