Montreal researchers join international study of rare genetic disease Friedreich’s ataxia
Global News
Friedreich's ataxia is more prevalent in Quebec and in Acadian regions of the Maritimes, home to the ancestors of many people from western France, according to researchers.
Montreal researchers are joining an international study to learn more about a little-understood genetic disease that is found in Canada, and especially in Quebec and in Acadian regions of the Maritimes.
Dr. Massimo Pandolfo of the Montreal Neurological Institute is among the experts collecting research about Friedreich’s ataxia, a condition that causes progressive mobility limitations as well as other issues, including cardiac problems.
“This is a genetic, neurodegenerative and systemic disease that causes substantial disability, even in young individuals,” he said in a phone interview. “It most commonly starts during childhood or adolescence and leads to the inability to walk within 10, 15, 20 years.”
Pandolfo said patients across Canada are eligible to participate in the observational study, which involves taking a lengthy MRI, some blood tests and a physical examination. He said patients who volunteer will help researchers better understand the disease and help guide the development of therapies.
“While there’s no cure, we have a number of potential promising competing treatments that we need to test in the most efficient possible way,” he said. “So this is basically the goal: to learn more about the disease and how it affects the central nervous system, the brain, in particular, and the cerebellum.”
Pandolfo says Friedreich’s ataxia is caused by a mutation that “has probably arisen only once in human history.” It is only found in some regions of the world, most commonly in western and southern Europe.
It is also more prevalent in Quebec and in Acadian regions of the Maritimes, home to the ancestors of many people from western France, where it is comparatively common, Pandolfo says.
Two people living with Friedreich’s ataxia who volunteered for the study say they’re happy to help contribute to new research, and to get the chance to connect with people who understand their illness.
Dr. Michael Domeier, director of the Marine Conservation Science Institute, told Global News that they tag the adult females as they are the most interesting.
Regina’s recycling contamination is currently triple the limit and city is urging resident to change sorting habits now to avoid citywide fines and higher resident fees.
The study found that higher ultra-processed food intake at age three years was associated with adverse behavioural and emotional symptoms at age five years.
Edmonton's single-use waste rules were controversial and unpopular when introduced in 2023 — but new data shows the changes are having the intended effect of reducing garbage.
Carney's speech to Australia's parliament highlighted a soon-to-launch Canadian low earth orbit satellite network that experts say could soon compete with Elon Musk's Starlink.
The Pentagon said in a statement Thursday that it has “officially informed Anthropic leadership the company and its products are deemed a supply chain risk, effective immediately.”
Opioid overdose deaths in Canada are falling, but there's growing concerns on a certain veterinary tranquilizer being cut into fentanyl and other opioids.
The product is being recalled in Alberta, British Columbia, Manitoba, Ontario, Quebec and Saskatchewan due to 'undeclared almonds' being found.
Toronto Maple Leafs defenceman Chris Tanev is out for the rest of the season, the NHL team announced Wednesday.
A large swath of southern Alberta is under a snowfall warning, with up to 30 centimetres of snow forecast to fall in some areas before the snow tapers off by Saturday morning.
Coined forever chemicals due to the years it takes for them to break down, PFAS are 'a group of thousands of human-made chemicals' commonly found in everyday items.