Study Changes Understanding of How DNA Causes Disease
By GINA KOLATA
At least four million gene switches that reside in bits of DNA once thought to be inactive turn out to play critical roles in health, researchers reported.
So, what is your first take on what this story is about? Just, say, reading the title and the lede. It sounds like this is some sort of new result about how "junk DNA" actually does something. Wow! And there might be new understanding of (potentially all?) disease!
Of course, these pieces of junk DNA had been known to be associated with certain diseases for a decade. In fact, the author likely knew this as it is written in the article.
In large studies over the past decade, scientists found that minor changes in human DNA sequences increase the risk that a person will get those diseases.
The earliest papers are from the late 1990s and 2000s. As the Human Genome project was coming up with much less than it expected, scientists pushed into this area.
And of course, gene switches aren't new -- another fact the author likely knew as it too is written in the article.
In recent years, some [scientists] began to find switches in the 99 percent of human DNA that is not genes
I think the author left off what recent years meant because 10 years doesn't sound so new. In recent years (2007) it was sufficiently established for NOVA to cover it.
In fact, the entire concept has been around for awhile. The reason I wrote this particular post is that I personally have known about this simply through the aforementioned NOVA episode. I knew enough about gene switches in 2008 to comment (with proto-spittle flecked ire) on an idiotic statement by Ray Kurzweil saying the brain is simple because a human DNA sequence consists of only "50 million bytes" of information. I said:
In the worst case, a sizable fraction of all 2^20000 [gene on/off] states could be involved to get from a stem cell to every neuron in its right place of the brain with the proper function.
I don't want to detract from the actual work presented in the article. It is a pretty awesome piece of human genome mapping, and it really sheds light on how complex the whole thing is. (And it puts some more hurt on Kurzweil since the entire 3D structure along with the switches appears to be important in DNA.)
Gina Kolata seems to be a stand-up molecular biologist cum journalist. I imagine the editors of the NYT were completely blown away by progress in stuff they hadn't been paying attention to since the 1990s (or maybe ever) and said she should change the lede.
And I guess it got me to click the link.
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