Social Media Meets Genetic Research

July 17, 2014 3:30 PM

What do you do if your child has a condition that is new to science? After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’ ”

It's a long article about a newly discovered genetic disorder and how social media helped accelerate the diagnosis. I am posting it because of the intersection of medical science and social media.

posted by Michele in California (6 comments total)

Matt Might's blog post made the MetaFilter front page back in 2012.
posted by RichardP at 4:39 PM on July 17, 2014 [1 favorite]

That was a great read. I work in medical research, for a genetic disease for which we know the cause but there's currently no treatment. And while the disease I work with didn't have anything like this discovery process, it's true that the patient communities are amazing, with online communities connecting people who'd otherwise struggle to know of each others' existence, much less spread news and swap experiences. The first event I went to, I was startled by how well-informed they all were about ongoings in the community, the latest research, and an accurate sense of how common their specific experiences and symptoms were.

If you're not familiar with it, patients like me is a really interesting project along those lines, encouraging people with all sorts of conditions to share their symptoms, treatments and other experiences, both for solidarity and a sense of community, and to act as a resource for researchers looking at how patients respond to various interventions. I'm not sure whether anything has come out of it yet, but it has the potential to be a fantastic resource.

All the talk of academic competition slowing down progress is depressing, and totally unsurprising. It's all too common to see labs in competition where they really should be pooling resources, but that's where the reward system that an academic's career is built on pushes us.
posted by metaBugs at 4:51 PM on July 17, 2014 [1 favorite]

Great read, thanks Michele.
posted by Hermione Granger at 5:52 PM on July 17, 2014 [2 favorites]

This is potentially an incredibly important insight:

As Bertrand and the other NGLY1 patients illustrated, the inability to get rid of malfunctioning glycoproteins has devastating consequences, especially for developing infants. But [...] it might confer one advantage, as well ... perhaps Bertrand was able to avoid infections because viruses got stuck after attaching themselves to his defective glycoproteins. ... [That] could point to a way to treat acute infections ranging from influenza to Ebola hemorrhagic fever.

One family's tragedy + dogged persistence + new media + money = still a tragedy, but maybe with far-reaching consequences for future viral medicine.
posted by RedOrGreen at 10:09 AM on July 18, 2014 [1 favorite]

Genetic disorders tend to persist due to the advantages they confer. I mean that is the essence of evolution. Sickle cell is protective against malaria. Cystic Fibrosis protects against typhoid. My understanding is that typhoid running rampant in Europe (historically) is why CF is far more common in Caucasians than in most other ethnicities.

But it tends to be a politically incorrect thing to note. So I am not sure if it will ever become acceptable to use that information in the way you are suggesting, though I think there is enormous potential for learning there.
posted by Michele in California at 11:58 AM on July 18, 2014

Very interesting article. I have a friend whose daughter has Rett Syndrome, a rare but identified disorder, and social media has played a huge role in the sharing of information and providing support for the families affected.
posted by shoesietart at 12:11 PM on July 18, 2014