Funding outcome

As many as 80,000 Albertans are affected by rare diseases. With the greatest prevalence in children, such diseases dramatically impact the lives of both those suffering and the families caring for them. We are describing a novel genetic disease in a consanguineous family of Cree descent from Northern Alberta and propose to characterize the cause of the disorder in relation to a gene not previously known to cause human disease. Because of this genetic disease, the family has already lost one child, and the second is being treated as a result of our preliminary findings. The disorder has a complex presentation and affects the immune system, the bones, the skin and the overall development of the child. Clarifying the cause of the disorder will provide timely diagnosis and intervention for other children with the same disease, will help the family make decisions about reproductive options, and will allow us to develop a screening test for their specific community, to be applied either at the preconceptional stage and/or as a newborn screen. Aside from providing insights into the biology of the disease, our results will show a practical example of integrating research into health care at an institutional level with the scope to better care for children and families with rare disorders including those related to First Nations.