Her Disease Is Incredibly Rare. So Is Her Dad's Effort to Cure It

A look at the research into NGLY1 deficiency
By Kate Seamons,  Newser Staff
Posted Feb 11, 2018 4:45 PM CST
Updated Feb 18, 2018 1:33 PM CST
Her Disease Is Incredibly Rare. So Is Her Dad's Effort to Cure It
Grace Wilsey's genetic illness is caused by a single mutated gene.   (Getty Images)

Grace Wilsey is Chelsea Clinton's goddaughter. But that's not the only very rare facet of the 8-year-old's life. Four years ago she became one of the first children to be diagnosed with NGLY1 deficiency, a single genetic mutation that causes a host of problems, from muscle weakness to liver issues to Grace's inability to speak. Fewer than 50 children are thus far known to suffer from it; the first known child to die from the disease passed away in 2016 at age 4. Writing for Wired, Erika Check Hayden tracks Grace's parents' quest for a cure, and first provides context: Though we're now able to much more successfully identify single-mutation diseases like NGLY1 deficiency, finding a treatment for the "very rare ones" is "all but impossible." There's just no upside for pharma companies: "the potential market is so small that a cure will never be profitable."

And so Matt Wilsey—a Stanford grad, friend of Clinton's, and successful Silicon Valley business development executive—charted a bold course. He first started a foundation for NGLY1 research, raised $7 million, began cold-calling scientists who might be interested in researching it, and doled out some 30 grants. "Two years later, one line of his massively parallel attack paid off." The research involved a protein the NGLY1 gene makes called N-glycanase and how it affects another protein, Nrf1. Hayden explains the complicated science of the discovery quite clearly, using the metaphor of a pin, grenade, and an explosion, as well as the impact of it: It was the first real clue as to why NGLY1 deficiency caused so many issues, but it also suggested that research into it could be applicable to cancer and other common diseases. Wilsey saw the potential for a new business model ... and went for it. Read the full story here. (More Longform stories.)

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