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GENES AND DEVELOPMENT

In Canada, about 1 out of 10 pediatric hospital admissions are for kids who have a genetic disorder.
Various estimates put the number of rare genetic conditions at 5,000 to 8,000 and new disorders are reported weekly. Arriving at a diagnosis, and effective treatment, for a child’s genetic disorder remains a challenge for everyone involved—clinical professionals, parents and the health care system in general. The “diagnostic odyssey” they face is stressful and often takes years to accomplish.

Identifying the genes responsible for genetic disorders represents a crucial step toward understanding and treating the gene-linked diseases and conditions that affect children.
With the aid of our donor-funded Next Generation DNA sequencing technology, Dr. Francois Bernier and his research team at ACHRI, with their collaborators across the country, have identified more than 60 genetic disorders over the past three years.

These findings are important discoveries that contribute new knowledge to our understanding of the molecular basis of disease—in children and adults. In fact, knowing the exact genetic variances at the root of a genetic or metabolic disorder can help doctors to:

  • provide earlier and more accurate diagnosis 

  • develop treatments tailored to the genetic makeup of the child

  • reduce or prevent patient complications

  • provide more accurate reproductive counseling to families

As lead investigators of a North America-wide study our researchers solved a medical mystery that has puzzled scientists for more than half a century. Dr. Bernier and his team identified the gene responsible for Nager Syndrome, a rare condition that causes changes in the child’s face and limbs, as well as deafness.

Ronalynn and Kevin Richardson’s then-8-year-old daughter Hannah had been a patient of Dr. Bernier’s at the Alberta Children’s Hospital since she was born. She’s a big reason why he decided to search for the Nager Syndrome gene. Using DNA sequencing technology, Dr. Bernier analyzed all of Hannah’s 22,000 genes and their 6 million letters of DNA code, along with those of other people with similar symptoms to identify one common genetic variance. To his delight, Dr. Bernier and his team found that variant—the gene that causes Nager Syndrome. To Hannah’s parents, the discovery meant an accurate diagnosis after eight years of searching for one. Now they had certainty and peace of mind knowing that has a bright future ahead of her.

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 Read more about Hannah’s story
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