The new issue of the New Yorker, out today, includes a fascinating medical story with a notable Stanford connection. As we've described before, a team of scientists from institutions around the world reported earlier this year on their discovery of a new genetic disease, NGLY1 deficiency. Stanford's Gregory Enns, MB, ChB, was co-lead author of the paper describing the new finding, and one of his patients, Grace Wilsey, was among the small group of children in whom the disease first was identified. Grace's inability to make tears when she cries was a key clue in unlocking the mystery of the disease.
But, as the New Yorker piece (subscription required) explains in detail, there's much more to the story than that. In particular, it tells how the families of patients - especially Grace's parents, Matt and Kristen Wilsey, and Matt and Cristina Might, who are the parents of index patient Bertrand Might - successfully encouraged researchers at different institutions to collaborate with each other in a way that advanced the discovery with exceptional speed. This was counter to the usual practice in science, the story explains. Typically, scientists avoid sharing data with competitors, even if doing so would advance the research:
If a team hunting for a new disease were to find a second case with the help of researchers from a competing lab, it could claim to have "solved" a new disease. But it would also have to share credit with competitors who may have done nothing more than grant access to existing data. When I asked [Duke University geneticist and NGLY1 deficiency co-discoverer Vandana] Shashi if she could imagine a scenario that would result in one research team's publishing a paper with data from a different research group working on a similar project, she said, "Not that I can think of."
David Goldstein [another Duke geneticist who collaborated with Shashi] added, "It's not an overstatement to say that there are inherent conflicts of interest at work." Daniel MacArthur, a genetics researcher at Massachusetts General Hospital, is even more blunt. "It's an enormous deal," he told me. "And it's a big criticism of all of us, but it's a criticism we all need to hear. The current academic publication system does patients an enormous disservice."
Fortunately for patients like Grace and Bertrand, and for the doctors who want to help them, the culture is shifting. One marker of the shift is the NIH's announcement earlier this month that it will be expanding its Undiagnosed Diseases Program to a network of seven sites across the country (including Stanford) and building in a requirement that all seven centers share data with each other.
Another is that researchers are realizing that families like the Wilseys and Mights will continue to make an impact. In fact, the Wilsey family has recently launched the Grace Wilsey Foundation to raise awareness about NGLY1 deficiency and promote investigation of possible treatments for the disease.
As Shashi puts it at the conclusion of the New Yorker story:
"Gone are the days when we could just say, 'We're a cloistered community of researchers, and we alone know how to do this.'"
Previously: NIH network designed to diagnose, develop possible treatments for rare, unidentified diseases and Crying without tears unlocks the mystery of a new genetic disease
Photo of Grace Wilsey courtesy of Lucile Packard Children's Hospital Stanford