A team of local researchers -- aided by four generations of a western Manitoba family -- has unlocked the secret to a mysterious blood disorder, which could lead to improved treatment for patients.
The small group of CancerCare Manitoba and University of Manitoba scientists has identified the genetic mutation responsible for an illness known as hereditary xerocytosis, a disorder that causes the rapid destruction of red blood cells. It was first identified in Manitoba four decades ago.
The cause of the syndrome had long baffled researchers. But two years ago, local scientists led by Dr. Ryan Zarychanski, a hematologist with CancerCare Manitoba's centre for blood disorders, organized a gathering of relatives of the Manitoba woman in whom the disorder was originally detected.
The research team set up shop in the community hall of a western Manitoba town where many members of the woman's extended family still live. (The family is not being identified due to privacy concerns.) The researchers obtained blood samples from more than 130 relatives, recorded their medical histories and performed physical examinations.
Then the detective game moved into the lab. With help from Yale University, the researchers employed a series of sophisticated DNA techniques to pinpoint the genetic mutation responsible for the disorder. They wound up discovering a protein that no one had ever linked to red blood cells.
"We nailed down the cause of the disorder that everyone's been looking for," Zarychanski said Monday, referring to efforts over the past decade in Italy, France and the United States.
The Manitoba group's discovery dominates the cover of the latest edition of Blood, the world's top journal on blood disorders.
Zarychanski's team includes Dr. Donald Houston (who trained him as a hematologist) and Brett Houston (no relation), a third-year U of M medical student who has won best student project awards in Canada and North America for her role in the research.
"It's been a wonderful opportunity," said Brett Houston, who is listed in the journal article as one of the study's authors. She said the opportunities that have come from her experience "are a little bit overwhelming."
Zarychanski said the mutated protein discovered by Manitoba researchers will likely help doctors to understand other inherited red-blood-cell disorders.
"I think it has the potential to be really neat," he said.