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The recent discovery by biochemist Philippe Gros of a gene that causes spina bifida is the latest salvo in McGill’s ongoing battle against the debilitating birth defect.
Dr. Gros’ discovery, published in the April 5 issue of the New England Journal of Medicine, builds on what fellow researchers and care-givers in McGill’s Faculty of Medicine and at the McGill University Health Centre refer to as the “continuity” of the institutions’ efforts to effectively treat and one day eradicate a defect that occurs in as many as two births per 1,000—the second most common birth defect after cardiac abnormalities.
“It’s wonderful that McGill has played a role in uncovering both folate-responsive genes and non-folate-responsive genes that are linked to spina bifida,” said Dr. Rima Rozen, Associate Vice-Principal, Research and International Relations. Dr. Rozen’s research group was the first to identify and clone a gene that helps synthesize folic acid, a vitamin proven to reduce the risk of spina bifida by up to 70 percent since folic acid started to be added to Canadian and U.S. wheat products in the late 1990s.
While Dr. Rozen’s and Dr. Gros’ discoveries have helped lift the veil on the causes of the disorder, treating those living with spina bifida is also an important part of the fight.
When it comes to treating the approximately 100 patients living with spina bifida who move through the MUHC system every year, the continuity that McGill has worked hard to establish begins at the very earliest stage at the spina bifida clinic run by Dr. Patricia Forbes and her team at the Montreal Children’s Hospital.
“We follow them from infancy up to the age of 18,” said Dr. Forbes, whose office contains stacks of files, some as thick as a telephone book, on each of the patients her clinic sees.
Those files eventually make their way into the hands of other physicians who will treat the same patients as adults.
“As a specialist, I was very interested in establishing this type of continuity,” said Dr. Simon Tinawi, Chief of Physical Medicine and Rehabilitation at the Montreal General Hospital. Dr. Tinawi helps to provide much-needed physical therapy for patients with spina bifida at the Constance-Lethbridge Rehabilitation Centre.
By also partnering with the Shriners Hospital for Children, Dr. Tinawi and his team ensure the required care is always available.
“The kids come to the Constance-Lethbridge Centre with Dr. Forbes or Joanne Ruck-Gibis, who is head of physiotherapy services at the Shriners Hospital, and this is how they start understanding the concept of continuity. The care-givers they see become familiar faces.”
Because the spinal deformities that characterize spina bifida often require the use of a wheelchair, one of the goals of rehabilitation is to help the patient become as independent as possible. One day, though, research may well reduce the need for care, said Dr. Tinawi. “I expect that in 10 or 15 years, we’ll have fewer patients with spina bifida,” he said. Dr. Gros said he expects his discovery to help doctors diagnose the disorder, while Dr. Rozen urges mothers-to-be to speak to their physicians about folic-acid supplementation.
“I think that’s an important message, particularly to young women and students,” she said. “I don’t know of any other birth defect that can be cured by a vitamin, and vitamins are cheap and simple.”