Researchers turn to volunteer readers to speed research on rare genetic disorder

Post date: Jun 7, 2015 2:37:44 PM

Article in Science Insider

This is interesting story in several different ways. I like the idea of using "laypeople" to make these literature connections. It makes sense to make use of the people affected who are likely to want to read a lot about the disorders anyway. With a clever design, these desperate people can feel like they are helping, make unorthodox connections, and actually further research.

Also, this is a continuation on the story of Matt Might, creator of "The Illustrated Guide to a Ph.D", who went through every parent's nightmare in having a son with a seemingly undiagnosable disease. Then, genomics to the rescue (sort of, no cure yet) exome sequencing at Duke, no less, pinpointed a mutation in NGLY1 as the cause (read here for more:http://matt.might.net/articles/my-sons-killer/). Now they join a small group of children diagnosed around the US with defunct NGLY1 (including different mutations).