There’s new hope on the rise for multiple myeloma and other forms of cancer. Investigations are underway into a rare disease called NGLY1 deficiency and the clues are looking good.
Carolyn Bertozzi is a professor of chemistry at Stanford University and she’s the detective on this investigation which all started with patient Grace Wilsey.
Grace’s parents, Matt and Kristen Wilsey were told her daughter was sick even before she was born. They were fully braced for the unexpected. As sure as they said predicted, when Grace was born, her heart rate was low which forced an emergency C-section
“The feeling was like shell shock,” Matt Wilsey said in an interview with Futurity. “The feeling was, ‘my life is over.’ But that sort of pity party lasts for about 10 minutes, and then it’s like, OK, now it’s time to go to war.”
NGLY1 is a rare genetic disorder characterized by a variety of debilitating and isolating symptoms, including global developmental delay, movement disorders, seizures, ocular abnormalities, chronic constipation, and life-threatening liver disease.
Not much was known of this disease, leaving the Wilsey’s at a loss. Only 36 known cases of the disease exist today and back when Grace was born, there were less than 5 recorded in the world.
One thing was certain. The enzyme involved in the disease strips sugars off of proteins during a process called deglycosylation. This just so happened to be something that Carolyn Bertozzi specialized in.
Bertozzi and Matt Wilsey linked up and around this time, Matt had already created a foundation called, Grace Science, to dig into his daughter’s disease. Thanks to a helpful tip from a fellow HHMI investigator colleague, Bertozzi had an idea as to how to prevent cancer cells from becoming resistant to drugs.
