Thanks to community support for new state-of-the-art technology, children in our community will be among the first in the country to benefit from rapid DNA sequencing in a hospital setting. That means families whose children have undiagnosed disorders may soon have answers in weeks, rather than years. Specialists at the Alberta Children’s Hospital Research Institute are leading a first-in-Canada pilot study that will screen children for every genetic disorder known to medicine – with one cutting-edge test. About 25 percent of kids at the Alberta Children’s Hospital - and across the country – are in hospital due to an underlying genetic condition. Those whose conditions are among the most challenging to diagnose will be the first to be enrolled in the study. Currently, Calgary specialists can only test children for one single disorder at a time. Each test takes months for results and cost thousands of dollars. With the trial-and-error approach all that was previously available, families often suffered years of stressful, invasive procedures without answers for years, decades, or even forever. As part of the research study, using community-funded Next Generation DNA Sequencing Technology, experts from the Alberta Children’s Hospital Research Institute can now screen a child for 4,800 genetic disorders all at once. “For some families, this will give us more answers about their child’s health with one test than we’ve been able to get over the course of years,” says Dr. Francois Bernier, Section Chief of Clinical Genetics at the Alberta Children’s Hospital. “This can be life-changing – affecting treatment options, their expectations for the future and improving the quality of life for the whole family.” Rachael O’Neill can attest to that. Her two-year-old son, Enzo, has been a medical mystery his whole life – developing a number of conditions affecting his heart, muscles, joints and lungs. Specialists suspected he might have one of a number of very serious genetic disorders that can be fatal within three or four years. His family lived with the fear that they could lose him at any moment. Last fall, Enzo was enrolled in the research study and the Next Generation Sequencing ruled out the most devastating of these disorders . “I can’t possibly describe how relieved we were to hear that news,” says Rachael. “We’re so grateful that Enzo’s team at the children’s hospital never once gave up on trying to find answers for him. While he still has a lot of issues, there are new treatment options now and we can plan for our future with him.” Next generation sequencing technology has also helped Alberta Children’s Hospital Research Institute scientists identify more than 20 previously unknown genes that cause chronic illness, disability and sometimes premature death in children. “We have the community to thank for giving families – like Enzo’s - more answers and new hope,” says Dr. Bernier. “We believe this is where medicine is heading. New information about the genetic origin and mechanisms of disease will help us move towards personalized care and tailored treatments for the individual child.” Dr. Francois Bernier with Enzo

