CALGARY, May 1, 2012 /CNW/ - 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).
High definition lab and research b-roll is available for download at:
The Alberta Children's Hospital Research Institute for Child and Maternal Health (ACHRI)
ACHRI is a multi-disciplinary Partnership Institute of the University of Calgary, Alberta Health Services and the Alberta Children's Hospital Foundation - the membership of which encompasses the Faculties of Arts, Engineering, Medicine, Veterinary Medicine, Nursing, Kinesiology, Science and Social Work. http://research4kids.ucalgary.ca/
The Alberta Children's Hospital Foundation
The Alberta Children's Hospital Foundation is a founding partner of ACHRI, as well as the primary funder. The Alberta Children's Hospital Foundation raises funds for excellence in child health, research and family centred care. Through the generosity of donors, the Foundation provides funding for innovative programs, state-of-the-art equipment, advanced medical training and internationally-recognized pediatric research. www.childrenshospital.ab.ca
University of Calgary Faculty of Medicine
UCalgary's Faculty of Medicine is a national leader in health research with an international reputation for excellence and innovation in health care research, education and delivery. We train the next generation of health practitioners and move new treatments and diagnostic techniques from the laboratory bench to the hospital bedside, improving patient care. www.medicine.ucalgary.ca
Alberta Health Services
Alberta Health Services is the provincial health authority responsible for planning and delivering health supports and services for more than 3.7 million adults and children living in Alberta. Its mission is to provide a patient-focused, quality health system that is accessible and sustainable for all Albertans.
FORGE Canada (Finding of Rare Disease Genes)
FORGE Canada is a national consortium of clinicians and scientists using next-generation sequencing technology to identify genes responsible for a wide spectrum of rare pediatric-onset disorders present in the Canadian population. The Consortium brings together clinicians and scientists from all 21 Clinical Genetics Centres representing every province and internationally-recognized Canadian scientists with expertise in gene identification, with the infrastructure of the Genome Canada Science and Technology (GC S&T) Innovation Centres.
Genome Canada is a not-for-profit corporation that acts as the primary funding and information resource relating to genomics in Canada. Its main objective is to position Canada as a world leader in genomics research. Dedicated to developing and implementing a national strategy in genomics research for the benefit of all Canadians, it has received $915 million in funding commitments from the Government of Canada since 2000 to which has been added close to $1.0 billion in partnered co-funding and interest earnings.
Canadian Institutes of Health Research (CIHR)
For the past 10 years, the Canadian Institutes of Health Research (CIHR) has supported better health and healthcare for Canadians. As the Government of Canada's health research investment agency, CIHR enables the creation of evidence-based knowledge and its transformation into improved treatments, prevention and diagnoses, new products and services, and a stronger, patient-oriented healthcare system. Composed of 13 internationally-recognized institutes, CIHR supports more than 13,000 health researchers and trainees across Canada.
For further information:
Manager, Community Engagement
Alberta Children's Hospital Foundation
Email. [email protected]