GENES AND DEVELOPMENT
In Canada, about 1 out of 10 pediatric hospital admissions are for kids who have a genetic disorder.
Identifying the genes responsible for genetic disorders represents a crucial step toward understanding and treating the gene-linked diseases and conditions that affect children.
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:
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.
|Read more about Hannah’s story|