Academic Rank:
Clinical Assistant Professor, UBC
Laboratory Scientist at Children’s and Women’s Health Centre of British Columbia
Affiliation(s):
BCCH/BCCHRI
Short Bio:

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.

Academic background

  • 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
Primary Research Area
Genetics genomics proteomics and related approaches
Secondary Research Area
Human Development & Aging

Research Interest

Summary: My research involves investigating new technologies for use in clinical genetic testing. I am also interested in identifying novel genetic variants in families with rare diseases.
Current Projects: My current research focuses on the validation and implementation of new technologies for clinical genetic testing. We are currently evaluating next generation sequencing (NGS) platforms for use in the clinical lab. While traditional genetic testing methods sequence only one gene at a time, NGS technology enables examination of multiple genes, or even all in the genes in the genome, with a single test. This allows fast and accurate diagnosis of conditions where a specific gene defect is suspected and may also be used to identify the genetic causes of conditions when the specific gene is not known.  Implementing NGS testing in the Molecular Genetics Lab will allow us to improve and expand the scope of clinical genetic testing available in BC.

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.