As a wicked late winter wind swirls outside her small, cluttered
office on the University of Chicago campus, Nancy Cox '78 talks
softly about the culprits she hunts down.
"Think of it as a detective story in which someone has to locate
a person somewhere in the world," she says. "They'll try to track
them down to a continent, to a country, and then a city, then
finally block by block to locate them in the house."
Sounds like a lot of long hours and frustrating work. Which
is why Cox still beams as she describes how it all came together
four years ago. The scientists did it. They finally caught one.
Here's what seems to be the wondrous and maddening thing about
genetics: All these evildoers, these variant genes that cause
any number of ailments in us, form such complex links and work
together in ways so subtle that isolating one and identifying
it as a contributor is akin to, as one observer put it, scaling
Mount Everest blindfolded.
But several years back Cox and a team of colleagues from the
University of Chicago and the University of Texas Health Science
Center at Houston reached the mountain top. After eight years
of studying a high-risk group, running countless tests and statistical
analyses, and going block by block along endless strands of DNA,
the group identified a gene associated with the development of
Type 2, or adult-onset, diabetes.
The finding grabbed headlines and set the scientific community
buzzing. Researchers hailed the discovery as nothing short of
a landmark -- and not just because it provided new insight into
the origin of a disease that affects an estimated 135 million
people around the world.
At the risk of getting too technical, the recently unearthed
gene was a protein regulator. Experts had long thought that only
genes which actually altered proteins created the variations in
our make-up that led to illness. With their discovery, Cox and
crew demonstrated that genes which simply regulate protein amounts
can also play a role -- and thus a whole new path of research
was opened up. "It's brought about something of a paradigm shift,"
says Cox.
It also marked a definite career highlight for the former Farley
Hall resident, who went on to earn a doctorate in human genetics
from Yale in 1982. She says she was hooked on all this from the
moment she took her first genetics course in high school. "I've
never wanted to do anything else," she says with a smile. "It's
the coolest job in the world."
The world of genetics does indeed seem to be an extremely cool
place these days. In 2000, the same year Cox and her colleagues
discovered their gene, the world cheered as scientists completed
a major portion of the Human Genome Project, which mapped out
the gene structure of our DNA and opened new doors to genetic
research. And then there have been the eye-popping successes in
cloning. which have stirred our wildest dreams about creating
disease-free populations.
Cox, who splits her time between teaching and researching, is
quick to paint a more prosaic picture. "It all sounds exotic,
but you can't know how unglamorous it is until you see me at 11
at night trying to figure out what's wrong with a file or why
the data won't run."
Cox also sounds a cautionary note about all the much-hyped hope
surrounding her field. "It would be crazy to try to manipulate
a gene without knowing everything it does," she says. The diabetes-related
gene she helped to discover most likely serves other unknown functions,
she notes. Messing around with it may produce unintended and possibly
adverse consequences elsewhere in the body.
The researcher does envision a future of better therapies and
even the prevention of illnesses through genetic research. But
the more immediate benefit of discovering variant genes, she says,
is knowledge. In genetics, perhaps more than anywhere else, knowledge
truly is power. Identifying the diabetes gene, for example, will
allow health professionals to test for it -- and thus alert people
early in life about their predisposition to a disease that can
be modified through behavior.
"I always ask the young people I teach: If someone told you
now that you are at risk for diabetes unless you keep up a good
exercise level and modify your diet," what would you do? Her students
tell her they would indeed alter their behavior for the better.
In the end, attainment of knowledge is also what pushes Cox
to do what she does. "I will be glad if the discoveries I help
make lead to a reduction in diseases," she say. "But what really
drives me is that I just want to know. I want to understand all
this. That's why I do it."
Spoken like a true detective.
Cheever Griffin is a Chicago-based writer.
(July 2004)
