Dr Evica Rajcan-Separovic is Associate Professor at the University of British Columbia in Vancouver, Canada. She is also a Scientist at the Child and Family Research Institute and works as a Canadian College of Medical Genetics certified clinical cytogeneticist at BC Children’s Hospital. Her main interest is in finding genomic causes of development disorders that lead to miscarriage or abnormal early childhood development. She was a recipient of the Canadian Institutes of Health Research Clinical Investigatorship Award and a Michael Smith Foundation for Health Research Career Scholar Award.
- Michael Smith Foundation of Health Research Scholar, 2008-2014
- CIHR Clinical Investigatorship, 2005-2009
- Fellow of the Canadian College of Medical Genetics, subspecialty cytogenetics, 1998-present
- CCMG Postdoctoral Fellowship (Clinical Cytogenetics), Children’s Hospital of Eastern Ontario, 1995-1997
- Postdoctoral Fellow (Genetics) University of Ottawa, Ontario, 1993-1995
- NSERC Visiting Fellowship, Agriculture Canada, Ottawa, 1991-1993
- PhD, University of Belgrade, Yugoslavia, Molecular Cytogenetics. 1989
- MSc, University of Belgrade, Yugoslavia, Cytogenetics. 1985
- BSc, University of Novi Sad, Yugoslavia, Biology. 1983
- Genomics and functional genomics of human diseases (intellectual disability, autism and reproductive disorders).
My laboratory studies genomic abnormalities as the cause of human diseases. We use genomic microarrays to detect tiny chromosomal microdeletions and microduplications in patients with intellectual disability, autism or reproductive disorders. Most recently, we started using next generation sequencing to identify even smaller abnormalities in the DNA from our patients. Our current interest includes finding the functional consequences of gene copy number or sequence changes in patient cells and in animal models (e.g. zebrafish or C.elegans). Our ultimate goal is to understand better the connection between the phenotypic abnormalities in our patients and the defects in their genes.
- Genomics of intellectual disability
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 per cent of the population, and cause remains unknown in at least 40 per cent of all cases. We are using chromosome microarray technology (CMA) and next generation sequencing to detect small chromosomal and DNA changes in children with ID. We are also interested in understanding how these changes affect the gene function by assessing RNA and protein expression as well as gene-specific pathways. For more information see http://www.research-europe.com/magazine/healthcare2/hc22/index.html.
- Genomic changes in human miscarriages and their functional consequences
Pregnancy loss is a significant health concern as 15 per cent of clinically recognized pregnancies end in miscarriage, with the highest rate in the first trimester. Although finding the cause of pregnancy loss is essential for prognosis, recurrence risk counseling, and the management of all future pregnancies, the cause remains unknown in 30-50 per cent of all cases. Our studies focus on finding the genomic cause of abnormal human embryo development and miscarriage. We have shown show that 30% of sporadic and recurrent miscarriages have small and unique chromosomal gains and losses, detectable only by CMA. These genomic abnormalities are frequently inherited from one of the parents and could represent predisposing genetic factors for recurrent pregnancy loss (RPL). Functional follow-up of candidate miscarriage genes in the pregnancy loss as well as the use of next generation sequencing to identify pathogenic mutation are currently the main focus of this study (for more information see http://www.cihr-irsc.gc.ca/e/43150.html).