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UCalgary research and diagnostics collaboration to benefit families throughout Alberta

 
 We were doing some work under the hood of our website and go a bit behind in posting news so here is something from March 10 that we are very proud of:

UCalgary partners with Alberta Precision Laboratories and the University of Alberta to transform access to clinical genomics

Madden Ellis, Francois Bernier, David Bailey, and Madden's dad Patrick.When Madden Ellis was two years old he came down with a virus he couldn’t shake. He was admitted to the Alberta Children’s Hospital (ACH). Even with highly specialized care, his weight fell to within ounces of his birth weight of seven pounds, six ounces.
“The tubes he was attached to weighed more than he did,” says Danielle Garraway, Madden’s mom. “It was awful. We didn’t know what was wrong with him.”
Madden would spend the next six months in hospital.
 
“We’d been seeing doctors and specialists since Madden was born because he wasn’t thriving and had developed a terrible skin condition,” says Garraway.
 
Dr. Francois Bernier, MD, calls it the diagnostic odyssey: a long, difficult, and tiring journey many families endure while medical professionals seek to find a solution to what is causing health issues in their child. Bernier says a new partnership between the University of Calgary, University of Alberta, and Alberta Precision Laboratories (APL) will help families and medical professionals get answers to these diagnostic puzzles, sooner.
 
With funding from Genome Canada (through Genome Alberta), the Alberta Children’s Hospital Foundation, and other partners, clinical genome sequencing will be available for rapid effective diagnostic testing.
 
“There are so many families waiting for answers to serious medical conditions,” says Bernier, head of the Department of Medical Genetics and professor in the Department of Paediatrics at the Cumming School of Medicine (CSM). “Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness.”
 
Access to this technology can also result in significant savings to the healthcare system by eliminating years of testing, countless physician visits and various treatment regimens.
 
“We have the expertise right here in Alberta and we are building on an academic-healthcare collaboration to benefit our patients,” says Dr. Dennis Bulman, PhD, Medical/Scientific Director of Genetics and Genomics for APL.
 
Until now, large scale genome sequencing tests were often sent to labs in the United States for analysis, like in Madden’s case. However, even his commercial testing was still negative, further extending his diagnostic odyssey. Madden was eventually diagnosed in under a week when he was enrolled in a genomics research project at ACH. Having the tests done here benefitted Madden and other Canadian children.
 
“When we send specimens outside of Canada for analysis, we lose the ability to build a database here that has the potential to help other families and inform research,” says Bernier, who is a member of the Alberta Children’s Hospital Research Institute, and the Owerko Centre at the CSM.
 
The results of Madden’s test confirmed a rare genetic condition called immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. The immune disorder most commonly affects males and can be life-threatening. Madden required a bone marrow transplant. Fast forward almost four years, and Madden is about to celebrate his sixth birthday.
 
“I can’t believe the difference in him, he’s thriving and on the days he has almost too much energy to handle, I remind myself there were lots of days I was wishing he had energy,” says Garraway. “Now I’m grateful, energy is a good problem to have.”
 
Madden’s diagnosis led to a new diagnosis for his cousin, too. From the beginning Madden’s parents said that he reminded them of his cousin, who was nine and had been diagnosed with celiac disease, but diet alone wasn’t keeping his stomach inflammation at bay. His cousin also tested positive for IPEX syndrome, and underwent a bone marrow transplant. Now, he too is thriving.
 
“These programs bring amazing genome technologies to the doorstep of both our clinics and research programs. Our state of the art genome sequencing equipment will benefit clinical care and research programs in genetic diseases, cancer and the microbiome,” says Bernier. “We are so lucky to have the support of our community that enables these amazing programs. This investment really will transform health care on a national scale and improve the lives of Canadians.”
Infections, Inflammation and Chronic Diseases
The University of Calgary is uniquely positioned to find solutions to key global challenges. Through the research strategy for Infections, Inflammation, and Chronic Diseases in the Changing Environment (IICD), top scientists lead multidisciplinary teams to understand and prevent the complex factors that threaten our health and economies.
 
The University of Calgary’s Cumming School of Medicine is a leader in health research, with an international reputation for excellence and innovation in health care research and education. On June 17, 2014, the University Of Calgary Faculty Of Medicine was formally named the Cumming School of Medicine in recognition of Geoffrey Cumming’s generous gift to the university.
Alberta Health Services is the provincial health authority responsible for planning and delivering health supports and services for more than four 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. Alberta Precision Laboratories (APL) is a wholly-owned subsidiary of Alberta Health Services, delivering high-quality, responsive diagnostic lab services to Albertans, across our healthcare system.
 
Media Contact
Kelly Johnston
Senior Communications Specialist, Media Relations
403.617.8691 cell/403.220-5012 office
kelly.johnston2@ucalgary.ca
 
About the University of Calgary
The University of Calgary is making tremendous progress on its journey to become one of Canada’s top five research universities, where research and innovative teaching go hand in hand, and where we fully engage the communities we both serve and lead. This strategy is called Eyes High, inspired by the university's Gaelic motto, which translates as 'I will lift up my eyes.’
For more information, visit ucalgary.ca. Stay up to date with University of Calgary news headlines on Twitter @UCalgary. For details on faculties and how to reach experts go to our media center at ucalgary.ca/mediacentre


UCalgary research and diagnostics collaboration to benefit families throughout Alberta

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