
Schlade-Bartusiak, Kamilla
PhD FCCMG
Academic Rank(s)
Clinical Professor, UBC, Cytogenetic Laboratory, BCCH
Investigator, BC Children’s Hospital
Affiliation(s)
BCCH/BCCHRI
Academic Background
- MSc (Molecular Genetics) University of Wroclaw, Poland, 1993-1995
- PhD (Cytogenetics) Wroclaw Medical University, Poland, 1995-2000
- Postdoctoral Fellow (Cytogenetics) Wroclaw Medical University, 2000-2003
- Postdoctoral Fellow (Medical Genetics) University of Alberta, Edmonton, 2003-2008
- CCMG Fellowship (Clinical Cytogenetics), Calgary/Vancouver, 2008-2009
- FCCMG (Clinical Cytogenetics), 2010
Awards and Recognition
Publications
Research Interest
- Array applications in clinical cytogenetics
- Mechanisms of formation of chromosome aberrations
- Genotype-phenotype correlations
Chromosomal Microarry (CMA) is a technique enabling high-resolution, genome-wide screening of chromosomal imbalances. It has become and essential and routine diagnostic tool gradually replacing the lower resolution karyotype analysis. It allows for delineation of novel recurrent microdeletion/microduplication syndromes. SNP-based CMA technology allows also for detection of copy number neutral phenomena, like uniparental disomy and regions of homozygosity. As a cytogeneticist, I am interested in clinical and research applications of array technology. That includes better characterization of known and novel syndromes caused by chromosomal aberrations, as well as disease gene discovery.