However, the researchers were not surprised to find there was a genetic element to the disorder - they've apparently known for years that a genetic factor was a major contributor.
Dr. Phillipe Gros, professor of biochemistry at McGill University and public scientist said: "This is the first gene that has been shown to cause the disorder in humans."
Spinal bifida is one of the most common birth defects and a type of neural tube defect that occurs when the spine is not completely formed in the womb, leaving some of the spinal cord deformed or exposed.
Surgery to the area can close the exposed cord, but function to the area cannot be restored if the cord is damaged or unformed.
Environmental factors are still important in determining whether the mutated gene becomes spinal bifida.
The researchers also pointed out that pregnant women who take folic acid supplements reduce instances of the disease by 50 to 70 per cent.
Other environmental factors like obesity can contribute to the disorder, though it turns up only four weeks after conception, which is often before women are aware of their pregnancy and before vitamin supplements are taken.
"This discovery won't have a major impact on the search for a cure yet, but it can have an immediate impact on diagnosis or risk assessment," said Dr. Gros.
