After two years of not-quite-right diagnoses, Matt and Cristina Might enrolled their son in a genome sequencing study aimed at finding the genetic basis of rare diseases, the New Yorker's Seth Mnookin reports. Bertrand Might, as Mnookin describes, suffers from movement issues, seizures, and the inability to make tears, among other symptoms.
Through that exome sequencing study at Duke University led by Vandana Shashi and David Goldstein, the Mights learned that their son, Bertrand, had inherited two different rare NGLY1 mutations, one from each of his parents that likely contributed to his condition.
But to be sure NGLY1 was the cause, Goldstein told the Mights that more patients like Bertrand would need to be tested.
As Mnookin writes, Matt Might then wrote a blog post describing his son's condition that went viral. That popular post brought together some half a dozen other patients with NGLY1 mutations and their families.
This approach to finding other patients also highlights, Mnookin notes, shortcomings in the current research system.
For instance, he writes that to search for other reported NGLY1 mutations, the Duke researchers scoured their own internal records and records available through the National Heart, Lung, and Blood Institute. While that included some 6,000 records, Mnookin says that that's only a fraction of the number of people who have been sequenced, Researchers, he adds, are overly cautious about sharing data both because of privacy concerns, but to also protect their discoveries.
"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," Shashi tells Mnookin. "Gone are the days when we could just say, 'We're a cloistered community of researchers, and we alone know how to do this.' "