Geoffrey Ondrich was diagnosed with autism when he was a child. But like so many cases of the disorder, his parents never understood what caused his condition. That was until Dr. Micheil Innes asked the family to participate in a genetic research study.
A detailed analysis of Geoffrey’s and his parent’s DNA by a clinical research genetics team at the Cumming School of Medicine’s Alberta Children’s Hospital Research Institute revealed a change in a gene called CHD8. This gene change was unique in Geoffrey.
“Geoffrey has a rare de novo or spontaneous mutation of a gene which is in charge of a lot of regulation in the body, including growth and development,” says Dr. Micheil Innes, a clinical geneticist at the Cumming School of Medicine’s department of medical genetics.
Through Innes’ research, the Ondrich family found their answer ending their 18 year search for a cause of their son’s condition. It was an amazing discovery which they say changed their lives in many ways.
“This gave us a new way of looking at our son’s autism. You have to look at the genetic diversity, so instead of somebody saying my child has autism, you can instead say my child has autism of this specific category. This diagnosis and others like it allows us to make better treatment programs for these children,” says Sarah Ondrich, Geoffrey’s mother.
The University of Calgary would like to build on this strength in genomics research and is forming a new collaboration with IBM to accelerate and expand genomic health research into common childhood conditions such as autism and many congenital diseases.
“The actual sequencing is getting easier and less costly, so theoretically we should be able to offer this diagnosis to many more children. But what remains complicated is the analysis. How do you sort through millions of pieces of biological information received from every patient? That’s where the collaboration with IBM is helpful. It will allow us to look at data much more quickly and get that data back to the families,” says Innes.
One in four children admitted to the Alberta Children’s Hospital is a patient with an unknown or undiagnosed illness. Calgary researchers have helped in the investigation of more than 400 genetic cases referred by pediatric centres in Alberta and across Canada. Half of the cases have been solved with 60 new genes identified – genes that cause chronic illness, disability and premature death in children. With access to new IBM tools, the clinical team and researchers expects to reduce from months to days the time required for these investigations.
“Advances in our ability to capture and analyze data have truly cross-cutting affects for research programs throughout the university,” said Ed McCauley, vice-president (research), University of Calgary. “The collaboration announced today will not only allow researchers to sort through larger data sets and provide advanced skill development opportunities for our trainees, it will increase capacity for genomics work in Calgary”.
“IBM has always believed investment in research and development is an important driver for Canada’s competitiveness, and few fields offer greater opportunities for innovation than healthcare,” says Dino Trevisani, president of IBM Canada. “Improving the health and vitality of our children requires a much broader, coordinated effort, by many systems and stakeholders, and relies on collaboration and interaction across the boundaries of government, social programs, life sciences, health researchers and providers. Taking a holistic view of the individual and entire populations, and sharing technology and knowledge, can lead to better, more cost-effective care.”
“Geoffrey’s case is a great example of precision medicine. We are looking at autism not as one disorder, but as a disease with hundreds of different causes. By identifying a specific cause, we can better focus on the management and care of the individual, and that’s what is important here,” says Innes.
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