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Researchers launch program to diagnose genetic diseases in children


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Researchers launch program to diagnose genetic diseases in children
A new University of Alberta pilot program aims to find answers and better treatments for children living with rare genetic conditions.
The Undiagnosed Disease Program, launched in January, is a collaboration between the Women and Children’s Health Research Institute (WCHRI) and U of A researchers from medical genetics and pediatric neurology to provide a diagnosis to patients in the health system who are suspected to have a genetic condition that has not been identified.
“Patients see doctor after doctor, and usually are treated for their symptoms, but an overall diagnosis hasn’t been made,” explained project lead Peter Kannu, chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry. “The concept of the Undiagnosed Disease Program has been operational at many other institutions in North America, and it will be a service that caters to these patients her ....

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