Johanna Rommens’ resume may show a slew of impressive scientific discoveries in the laboratory, but to her, it’s the human element of genetics that counts.
She’s been working at Toronto’s Sick Kids hospital since 1986, when she finished her PhD in molecular biology at the University of New Brunswick in Fredericton.
She hit the ground running when she arrived in Toronto for her post-doc, and by 1989, Rommens was part of the team that isolated the human gene responsible for Cystic Fibrosis. She was even lead author of one of the papers published on its isolation.
“At that time, it was before the human genome project, before we had all of the sequence information we have now,” she says. It was tough, but the team managed to crack it. “The tools were still being developed, but we just kept going.”
Now a senior scientist with Sick Kids, Canada’s most research-intensive hospital, Rommens is also a professor at the University of Toronto. While she shifted the focus of her research from genetic disease to genomics for a time, her most recent research is focused back on disease, because she loves working with the people that make that research happen.
“I love the human element for the research that we do. We have families that participate, even give their blood. They give their DNA — their most intimate information, in fact — and they share that with us.”
Out of the lab
Disease gene isolation is getting easier, Rommens explains, because the human genome is now well-mapped. She’s now focusing her research on more complex diseases, looking at how genes interact with each other to produce disease symptoms.
In late July, Rommens spent a week at Camp Sunshine in Casco, ME with families who have members afflicted with Shwachman-Diamond syndrome, a disease that initially presents with symptoms similar to Cystic Fibrosis. Her lab isolated the gene responsible for the syndrome in 2003.
“The pancreas, blood, and the skeleton are all affected,” she explains. “There aren’t many diseases that have that collective combination of problems.”
Although Shwachman-Diamond syndrome is a rare disease, with estimates of occurrence at only 1 in 50,000 people, over 40 families joined Rommens at Camp Sunshine — a volunteer-run, privately-funded camp — to spend a week learning about the latest research into the disease. More importantly, they learned that they’re not alone.
“It’s a chance for them all to meet each other, to get together and share experiences,” says Rommens. “They get there, and some of the kids, they didn’t even know there was somebody else like them. And that’s the most important thing: to meet people who are just like them, with the same issues.
“I know some of them met each other five camps ago, and when they come back and meet each other again, they go crazy because this is their chance to see each other and catch up with their lives.”
Not afraid to speak up
Rommens’ research has also led her to discover genes behind breast cancer, prostate cancer and Alzheimer’s disease. From her 15th-floor office overlooking Ontario’s Queen’s Park legislature, she’s come a long way from the family farm in eastern New Brunswick where she grew up.
She went to UNB Fredericton for both her bachelor’s degree and PhD. From the beginning, she knew she wanted to do research, which made UNB the right choice for her undergraduate degree.
While studying for her undergrad, Rommens was a Beaverbrook Scholar — a prestigious place to be in that still exists today. The school also gave her the flexibility she wanted for her doctoral degree, allowing her to study both molecular biology and synthetic chemistry.
Because of the small size of the chemistry department she was able to interact with graduate students and post-docs all the time. They would all congregate — as they still do today — in what is now the Undergraduate Chemistry Society’s lounge space.
Being Canada’s smallest comprehensive university, UNB gave Rommens the facilities to research what she wanted without losing the personal touch of a smaller school.
“We had a lot of freedom to do what we wanted to do,” she says, “and we were never afraid to talk to a professor. We didn’t hesitate to ask questions.”
She was also taught to think outside of the box. “We learned not to have to conform to the way that’s known how to do something. That’s an important thing to do when you do research.”
Contributed by Josh O'Kane. This story was made possible thanks to the financial support of the UNB Associated Alumni