Few lab technicians or coordinators ever see their names on “red hot papers” published in the top scientific journals. Fewer still ever encounter, on a personal level, the results of tests and experiments that they run. The path that brought Rosemarie Grabs face to face with Karine and her mother, Hélène, is exceptional. 

Rosemarie did not realize her first career choice. Yet by good fortune, the career that more or less chose her is with a Montreal Children’s Hospital laboratory that has earned worldwide recognition for breakthroughs in diabetes research.

Rosemarie has shared in the growth of Dr. Constantin Polychronakos’ [1] endocrine genetics lab from its outset, when she was the sole employee. She has seen the lab work shift from looking at proteins to DNA analysis and immunological testing. She now sees research opening the prospects for individualized medicine that twenty-first century technology brings.  

An opening for a research technician brought Rosemarie to the Montreal Children’s Hospital in 1980, but she didn’t expect to be here long. She had just finished her Bachelor of Science and hoped to get a feel for research in Dr. Eleanor Colle’s endocrinology lab before re-applying for veterinary medicine.

Rosemarie had little idea how a day in the lab would unwind, or whether she had any affinity for research. Yet instead of a pathway into veterinary medicine, Rosemarie found another niche. “The dynamism – the fun – of trying to do research and solve a problem got hold of me,” she explains. “And here I am, still!” When Dr. Colle retired, Rosemarie brought 12 years of experience in diabetes research to Dr. Polychronakos’ lab.

The next best thing to curing diabetes

Among the experiments that Rosemarie has run is one that identified a rare genetic mutation as the cause of Karine’s diabetes, permitting her to switch from insulin injections to oral medication. A strong proponent of individualized medicine, Dr. Polychronakos was concerned with the 1% or 1,000 diabetic children in Canada who might be able to take a pill rather than injections, allowing them to produce their own insulin – “the next best thing to curing their diabetes,” as he has stated.

With a Jeans for Genes Day grant from the Canadian Gene Cure Foundation in 2005, the lab set out to review the DNA samples that it had collected over the years from children diagnosed with type 1 diabetes, to see if any had a genetic mutation that would permit the switch. It took a year to pinpoint Karine’s case, along with two others.

In a research hospital, Rosemarie explains, patients like Karine benefit from diagnostic tests that would not be cost-effective to run routinely in clinic. “In an ideal world we could run 20 tests on each patient to determine what the cause of diabetes is,” she says. The clinical norm is three tests, which do not always detect type 2 diabetes in young patients, or rare variants of type 1.

An unprecedented connection

How does it feel to learn of Karine’s long-term improvement?  “It feels very, very good,” says Rosemarie. The level of connection that research technicians generally have with the subjects of tests is, she notes, “in theory, nothing…. Samples get shipped to me with a number, and that’s it.” For those who work with the numbers that ensure subject anonymity, it is a rare gift for a patient’s family to come forward, as Karine’s family has done, with news of how the work of a lab has touched lives positively.

Photo: Rosemarie Grabs, who works in Dr. Polychronakos’s lab at the Research Institute, sets up a PCR reaction in a thermocycler.