Posted May 1, 2012
Alberta Children’s Hospital researchers have discovered a gene that has eluded scientists for more than 60 years. A North American study led by Dr. Francois Bernier at the Alberta Children’s Hospital Research Institute (ACHRI) is published in the May issue of The American Journal of Human Genetics. The research identifies the gene which causes Nager Syndrome - a condition which causes deformation in a child’s face and limbs, as well as deafness. ACHRI is a multi-disciplinary Partnership Institute of the University of Calgary, Alberta Health Services and the Alberta Children’s Hospital Foundation.
“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 Bernier. “While Nager Syndrome may be rare, it doesn’t feel like it when it’s your child whose future health is unknown.”
Ronalynn and Kevin Richardson’s 8-year-old daughter Hannah has been a patient of Bernier’s at the Alberta Children’s Hospital since she was born. She’s a big reason why Bernier decided to search for the Nager Syndrome gene. To the Richardson family, this discovery means peace of mind.
“We’ve been living without answers Hannah’s whole life,” says Ronalynn. “You can’t imagine the relief that comes with knowing your child is going to be alright. I want that for all the other families who are faced with the same situation of not knowing what life will hold for their child living with a mysterious syndrome.”
This discovery was the result of an international collaboration between FORGE Canada and the University of Washington. FORGE Canada is a national consortium of clinicians and scientists, including Bernier’s team. The researchers use next-generation sequencing technology to identify genes responsible for a wide spectrum of rare pediatric disorders present in the Canadian population. Bernier is pleased the community is raising money for next generation sequencing technology here in Calgary at ACHRI.
“Without next generation sequencing, a discovery like this would have been impossible. And we want the discovery of the Nager gene to be the first of many,” says Bernier. “This technology has enormous potential beyond that of rare disorders. It’s going to help revolutionize our
understanding, diagnosis and treatment of disease, shorten the time it takes to find genetic anomalies and allow us to provide treatments which are personalized to the individual child.”
This research is funded by Genome Canada and the Canadian Institutes of Health Research (CIHR).