The Internet Has All Kinds of Great Uses

Like connecting people who share a rare, life-threatening genetic condition:

In 2012, Matt Might sat down to write a blog post. The 5,000-word essay titled “Hunting Down My Son’s Killer,” which was also republished on Gizmodo, documented his and his wife’s harrowing attempt to make sense of their son’s mysterious illness. The post went viral online—setting the family down a road that could change medical research. In the New Yorker, journalist Seth Mnookin tells the story of what’s happened since.

Might’s son, it turned out, has an incredibly rare condition involving a gene called NGLY1. When I say “rare,” I mean too rare to draw the pharmaceutical industry’s attention:

With only one known case of this disorder, writes Mnookin in the New Yorker, “there was virtually no possibility of getting a pharmaceutical company to investigate the disorder, no chance of drug trials, no way even to persuade the F.D.A. to allow Bertrand to try off-label drugs that might be beneficial.” So Might went to find other patients.

He took to the internet, and since his blog post went viral (no scientifically-inappropriate pun intended), he has found nine similar cases. This is one way that the internet beats otherwise-standard research methods:

If the Mights’ story is about the triumph of the internet, it is also about flaws in the traditional research community. It was impossible to find other cases related to NGLY1 in existing databases because researchers are unwilling to share genomic data—due to fears about patient privacy but also about not getting credit for a discovery. Social media has upended how patients with rare diseases find each another and, really, how these diseases are even discovered.

Let’s not get too smug about the power of social media, but let’s not dismiss it out of hand, either. This is not a “success” story per se, but it is cause for some hope.

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