Funding outcome

About 1 in 12 Canadians, two-thirds of them children, are affected by rare diseases often with an unknown cause which makes proper diagnosis and treatments extremely difficult. In 2015, a child born to consanguineous parents from the Cree First Nation in Northern Alberta, was suffering from a life-threatening rare disorder that influenced her immune system, bones and skin. She was hospitalized, various tests have failed to identify the cause of her disorder and a previous sibling has already passed away due to the same disease. We hypothesized that a genetic disorder underlines the clinical presentation of our patients and, in agreement with the parents, we embarked .in a quest to find the cause of this novel and rare disorder. Employing the latest genetic technology called next generation sequencing, we were able to identify a strong candiate gene for this disorder, in a gene that has not been previously associated with human disease. Currently, we are working in demonstrating that the changes seen in the patient relate to changes seen at the level of the patient's cells we are studying. I will be part of the research team utilizing the most advanced technology called CRISPR that will introduce the mutation in skin cells and then correct this change, followed by specific tests already developed in the lab to get an ultimate proof of our findings. Our preliminary findings have already enabled the child to survive via providing her the option for bone marrow transplant. The importance of this study is at least three fold: the results are aimed to benefit the family for potential family planning, as well as offering an early detection test for this new disorder for family members, but also for community members (this is a very inter-related by blood community) that will facilitate early access to treatment options, and last but not least it will provide me with an invaluable hands on experience in a truly translational study.