Advancing Human Genetics
When they moved to Clemson and the Center for Human Genetics, Mackay and Anholt officially combined their labs.
“I tell people Trudy is the brains, and I’m the cheerleader,” Anholt says.
They are continuing their research into complex traits, including substance abuse and lifespan.
“We have lines of flies that live twice as long as the average fly, and we want to know why,” Mackay says.
The National Institutes of Health recently awarded Clemson $10.6 million to establish the Center of Biomedical Research Excellence in Human Genetics in collaboration with the Greenwood Genetic Center. Mackay, Anholt and Richard Steet, the Greenwood Genetic Center’s director of research, will direct the effort, which is the NIH’s first center specifically focused on human genetics.
The center will cover common disorders, such as cardiovascular disease, cancer and neurodegenerative diseases as well as very rare genetic disorders.
The Center for Human Genetics has already done complete genome sequencing of three patients with rare but undiagnosed genetic disorders and their parents. Two of the three now have diagnoses, and they’re still working on the third.
“In one case we solved, the patient had the very first variant ever discovered in that gene,” she says, adding that knowing what the gene is and having a diagnosis could eventually lead to a treatment. “That may be the most exciting thing we’ve done since we’ve been here.”
New discoveries excite Mackay as much now as they did when she started her career:
“We love our jobs because every day is different. We never know what we’re going to find out, what challenges we’re going to meet and what new results we will have. It’s really exciting, like going into the unknown. I think any scientist would say the same thing.”
When Mackay’s students come to her and tell her they got a result they don’t understand, she tells them that’s the beginning of something exciting.
“It’s not science if you know what you’re going to find before you do it. You ask the question, and Mother Nature gives you the answer. You have to go with it because, unless you made a mistake, it’s the answer,” she says. “It may not be what you expect, but you’re going to learn something new.
“That’s the beginning of something exciting. The unexpected can lead to the biggest discoveries.”