• Bretherick, Karla

    Investigator, BC Children's Hospital

    Clinical Assistant Professor, Department of Pathology and Laboratory Medicine, University of British Columbia 

    Degrees / Designations


    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    604-875-2000 ext. 7439
    Lab Phone
    Mailing Address

    BC Children's Hospital
    Room 2J51 
    4480 Oak Street
    Vancouver, BC V6H 3V4

    Affiliate Websites
    Research Areas
    • Molecular genetics 
    • Clinical genetic testing

    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.

    Selected Publications

    Bretherick KL, Leach S, Brooks-Wilson AR. Functional characterization of genetic polymorphisms in the H2AFX distal promoter. Mutation Research 766-767:37-43. 2014. PMID: 25847270

    Bretherick KL, Schuetz JM, Morton L, Purdue M, Conde L, Gallagher RP, Connors JM, Gascoyne RD, Berry BR, Hjalgrim H, Smedby K, Skibola C, Rothman N, Spinelli JJ, Brooks-Wilson AR. Sex- and subtype-specific analysis of H2AFX polymorphisms in non-Hodgkin lymphoma.  Plos One 8(9):e74619. 2013. PMID: 24069324

    Bashash M, Shah A, Hislop G, Treml M, Bretherick KL, Janoo-Gilani R, Leach S, Le N, Bajdik C, Brooks-Wilson A. Genetic Polymorphisms at TIMP3 Are Associated with Survival of Adenocarcinoma of the Gastroesophageal Junction. Plos One 8(3):e59157. 2013. PMID: PMC3602604

    Bretherick KL, Bu R, Gascoyne RD, Connors JM, Spinelli JJ, Brooks-Wilson AR. Elevated circulating t(14;18) translocation levels prior to diagnosis of follicular lymphoma. Blood 116(26):6146-7. 2010. PMID: 21183699

    Hanna CW, Bretherick KL, Liu CC, Stephenson MD, Robinson WP. Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. Hum Reprod. 25(10):2664-71. 2010. PMID: 20716560


    2013 Rare Disease Foudnation Microgrant. Castleman Disease
    2013 Rare Disease Foundation Microgrant. Hairy Cell Leukemia
    2010-2013 CIHR Postdoctoral Fellowship
    2008-2011 MSFHR Postdoctoral Fellowship

    Honours & Awards

    James Miller Award, University of British Columbia, Medical Genetics Departmental Award, 2005

    Research Group Members