Grant: Operating Grant

Intellectual disability (ID) is a diagnosis given to persons who have life-long cognitive and adaptive impairments that commence in early life. ID affects about 1-3% of the population, thus nearly 1 million Canadians have an ID. The cause of ID is unknown in at least 40% of all cases. Recent reports have shown that very tiny chromosome changes are the cause of many cases of ID. These tiny chromosome anomalies are usually not seen using routine microscopic analysis. We are using the technology of genomic arrays to look for tiny chromosomal abnormalities in children with ID and have identified them in 10% of children studied so far. In the next stage we wish to understand how these tiny chromosomal changes cause ID by studying the function of genes they contain (their sequence, expression, replication). In order to facilitate the selection of candidate ID genes to study, we will create a unique database which will integrate clinical and genetic information from the current and future children we plan to study with genomic arrays. Such a database will also enhance our ability to recognize common clinical features of children who share a genetic alteration, lead to description of novel syndromes and development of Health Care Watches to assist in their health management.