
Drug companies are exploiting rare mutations - jbp
http://www.bloomberg.com/news/articles/2015-07-22/these-superhumans-are-real-and-their-dna-could-be-worth-billions
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tokenadult
The key idea is that genetic variants that have strong phenotypic effect
through variation in just one gene are mostly rare, and genetic variants
influencing most human traits of interest (heart disease risk, cancer risk,
physical stature, alcoholism, IQ score, etc.) act in combination with many
other gene variants, each of which alone has weak effect. This is the
consistent finding of genome-wide association studies (GWASes) as those
studies grow in sample size and in sophistication of the statistical analyses
applied to them. Most gene variants in the human genome have nil effect on
phenotype or such a weak effect that the influence of that one gene is
undetectable even in GWASes with hundreds of thousands of subjects. So the
word "rare" in the submitted article title (from the article description in
the original article metadata) is the key word here.

These rare gene defects with strong effect on phenotype are likely to be
helpful in illuminating the biological pathways involved in individuals
developing those phenotypes, if the individuals are studied thoughtfully in
clinical studies and especially if genetic engineering in an animal model can
replicate the effect. But many of the diseases and disorders that you and I
most care about will not be understood through this kind of research, because
those diseases and disorders are already known to be polygenic (influenced by
many genes, each of small effect) and multifactorial (subject to influence
both from genes and from various environmental factors, some of which are very
poorly understood). Identical (monozygotic) twins differ for many traits of
interest, showing that influences other than genetic influences still make a
difference in human development.

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jonawesomegreen
I'm super surprised that the fellow who cannot feel pain was able to make it
through childhood without very serious injuries. As the article mentioned
things as simple and teething would be a very different experience without
pain.

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masklinn
He did not (well unless you consider the threshold to serious injuries at
losing a limb I guess). Looking up Steven Pete and assuming there probably
aren't two 30-something pain-insensitive Steven Pete out there brings up
[http://www.thefactsofpainlesspeople.com/Steve.html](http://www.thefactsofpainlesspeople.com/Steve.html)
which notes that "Visits to the Emergency Room and long hospital stays were
quite frequent for my brother and I." and a number of other injuries-related
notes.

They were lucky, apparently their parents (both he and his brother are pain-
insensitive) were highly aware of the risks, observant and diligent, and
drilled them on safety especially with respect to infections.

The article notes that Steven Pete's congenital analgesia was discovered after
his parents found him "chewing on [his] tongue" which I assume is to be
interpreted more or less literally (though at 4 months old hopefully without
much damage)

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melling
This is a lot of donated information. Would it be beneficial to have 10x or
100x more people?

"Genentech is collaborating with Silicon Valley startup 23andMe, which has
sold its $99 DNA spit kits to 1 million consumers who want to find out more
about their health and family history—more than 80 percent have agreed to have
their data used for research"

