Dr Bretherick is a Research and Development Scientist in the Molecular Genetics Laboratory at the Children’s and Women’s Health Centre of BC and a Clinical Assistant Professor in the Department of Pathology and Laboratory Medicine at the University of British Columbia. Karla has a B.Sc. in Cellular Molecular and Microbial Biology from the University of Calgary, a Ph.D. in Medical Genetics from the University of British Columbia, and 5 years of postdoctoral experience in cancer genetics research at the Genome Sciences Centre in the BC Cancer Research Centre. Her research experience is in molecular biology and examining how common genetic variants influence risk for complex diseases including Type 1 Diabetes, premature ovarian failure, and non-Hodgkin lymphoma. She is interested and experienced in the use of next generation sequencing to identify genetic risk factors in families with rare diseases. In her current position she is responsible for implementing and validating new molecular assays for clinical genetic testing.
- Postdoctoral Fellow: Genome Sciences Centre, Vancouver, 2014
- PhD Medical Genetics, Univerisity of British Columbia, 2008
- BSc Cellular, Molecular, and Microbial Biology, University of Calgary, 2000
Implementation of NGS technologies allows discovery of disease genes in families with rare diseases for which a diagnosis cannot be determined. Identifying genetic causes for rare diseases in families will alleviate uncertainty of diagnosis, provide basis for genetic counselling regarding family planning and may provide insight into therapy and treatment.