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Diagnosing Neurofibromatosis 1, With and Without Genetic Testing medscape.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medscape.com Daily Mail and Mail on Sunday newspapers.
Imagine having a terrible medical condition and not knowing what it was. More than 400,000 Albertans have a rare disease. Many of them face challenges getting the right diagnosis, let alone finding the right specialist and obtaining effective treatment. Some cases are deadly; others can have a major impact on a patient’s day-to-day life. Advances in genetic screening in the last two decades mean a higher percentage of these diseases are diagnosed. But current tests which rely largely on DNA sequencing have their limitations, said Peter Kannu, associate professor and chair of the University of Alberta’s Department of Medical Genetics. ....
Date Time 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 ....