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Stanford University School of Medicine

How a rare disease led Stanford researchers to a cancer discovery

It's too good to be true: A girl is born with an extraordinarily rare disease. Her parents search for answers, enlisting top scientists from around the world. One team of those scientists figures out that a key component of the rare disease may also hold the key to treating multiple myeloma and other cancers.

But it is true: The little girl is Grace Wilsey, who turned 8 yesterday. Her parents are Matt and Kristen Wilsey. And the researchers are Carolyn Bertozzi, PhD, postdoctoral fellow Ulla Gerling-Driessen, PhD, and graduate student Fred Tomlin. Grace's disease, NGLY1 deficiency, is extremely rare -- there are only 37 people known to be living with it today -- but Bertozzi and her lab member's research shows how important NGLY1 itself is.

NGLY1 is an enzyme that helps clean out mis-folded or dysfunctional proteins.

As it turns out, regulating NGLY1 could help treat cancers such as multiple myeloma. In particular, preventing NGLY1 from functioning properly could boost the effectiveness of a promising class of cancer drugs known as proteasome inhibitors. Their findings appear in ACS Central Science.

The research, Bertozzi says in a Stanford news release, was unlike anything she'd worked on before:

I am very grateful, because when I moved to Stanford and joined ChEM-H, I hoped my new environment would enhance the impact of our research in medicine and human health... And it was amazing how quickly that happened, and it started with a patient.

Previously: Personalised Health Conference explores paradigm shift from treating disease to maintaining wellness, New Yorker story highlights NGLY1 research and Crying without tears unlocks the mystery of a new genetic disease
Photo of Carolyn Bertozzi, left, and Ulla Gerling-Driessen by L.A. Cicero

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