Grant: Operating Grant

Intellectual disability (ID) affects 2-3% of children and adults, or 140-210 million people worldwide. Defined strictly as low IQ, ID can have devastating lifelong effects on all aspects of life. The health cost of ID equals that of stroke, heart disease and cancer combined. The burden on families is incalculable. In most cases of ID, we do not know the cause (the majority is genetic), and so cannot provide effective treatment. ID can be an unchangeable fate for a child. Via our "Treatable Intellectual Disability Endeavour in British Columbia" (TIDE-BC) research, we found 81 published ID conditions that could be treated for underlying cause. These "inborn errors of metabolism" usually affect important enzymes and are treated using special diets, medications or stem cell transplants. In TIDE-BC, by careful screening, we identified treatable causes of ID in 5% of patients so far. In some cases, treatment has completely changed the child's life. Here, our team of doctors and scientists will use a comprehensive and individual approach to discovering more treatable genetic causes of ID. We have studied 8 families so far, and found one new treatable cause and five probable causes. Next ,we expand our approach in a total of 50 families, and the results will be directly implemented it into clinical practice via TIDE-BC. Ultimately, our aim is to be able to quickly diagnose the cause of ID in our patients, so we can provide correct treatments to each child to prevent brain damage and optimize health outcomes.