|
By Jennifer Cador
Zay
Agnes Zay confides that she was surprised to learn she’d won the Lieutenant Governor’s Silver Medal for her master’s thesis research into a rare genetic disorder.
“My project is very technical, so it’s not sexy science, as they call it,” she laughs.
Sexy science, according to Zay, is what we read about in the newspaper, like cancer vaccines or climate change. But Zay’s work is unquestionably important.
She studies an often fatal genetic disorder called glycine encephalopathy, most commonly seen in babies. People with the disease cannot break down glycine, an important neurotransmitter in the brain. Left untreated, babies with the disease sustain severe brain damage, suffer from seizures and usually die in their first year.
But diagnosis, at least until Zay’s research, has been difficult. Doctors have had to take a liver biopsy from the newborn, which involves surgery, or take a chorionic villi sample during pregnancy.
Zay’s work promises to change that situation. In her research, Zay zeroed in on one of the proteins in the complex that breaks down glycine and is working to see if it can diagnose the disease through a simple blood test. There is no cure, but symptoms can be treated with drugs.
While the disease is rare, Zay points out that the knowledge acquired can be applied to other diseases.
“The reason why you start with diseases like this is because they are what’s called ‘single gene disorders,’ so there’s a single defect that causes the disease. In diseases like cancer, a lot of different things interact with each other. Understanding this helps us move on to the more complicated diseases, like cancer.”
Zay is now considering a PhD in human genetics. In her off hours, she volunteers at the BC Cancer Agency and Habitat for Humanity, building affordable homes from the ground up.
“When you’re working your brain all week, you need to get outside and do something active. And one day, if I need to build my own house, I’ll know how to do the siding.”
|
