Researchers discover the gene for a rare disorder


Using next-generation sequencing technology, researchers at Alberta Children’s Hospital Research Institute (ACHRI) have identified the gene that causes Nager Syndrome, a condition that causes deformation in a child’s face and limbs, as well as deafness. This gene has eluded scientists for more than 60 years. “Genetic disorders of children are individually rare but collectively common, affecting the lives of hundreds of thousands of children in Canada. And most of the genes that cause these conditions have yet to be found,” says Dr. Francois Bernier. “While Nager Syndrome may be rare, it doesn’t feel like it when it’s your child whose future health is unknown.” This discovery was the result of an international collaboration between FORGE Canada and the University of Washington.


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