Dr. Evica Rajcan-Separovic

2007 Career Investigator Award, Scholar

Detection of novel microdeletions and microduplications in persons with intellectual disability using whole genome microarrays|,|

Intellectual disability (ID) is defined as a life-long significant limitation in both intellectual functioning and conceptual, social and practical adaptive skills, originating before the age of 18. ID affects about one to three per cent of the population, therefore nearly one million Canadians have an intellectual disability. Causes of ID are unknown in at least 40 per cent of all cases.

Recent reports suggest that very tiny chromosomal changes are the cause of many cases of ID. These tiny chromosome anomalies are not typically detected using routine microscopic analysis. However, recently-developed tools that analyze the genome at high resolution (genomic microarrays) provide researchers with an opportunity to detect these very small chromosomal changes (called microdeletions and microduplications).

Dr. Evica Rajcan-Separovic will be using the genomic microarray technology to look for such small chromosomal abnormalities in 400 subjects with ID and will examine using molecular methods a larger number of subjects with ID to see if additional individuals with the same abnormalities can be found. By studying a larger number of individuals with the same chromosome change, she and her collaborators will be able to determine what physical features and medical issues are due to that genetic change.

The identification of novel chromosomal changes as the cause of ID will be valuable for developing and refining screening methods for identifying individuals with the same abnormalities, and for eliminating costly multiple testing in the search for answers, allowing optimal care and health for persons with intellectual disability.

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