Karla Bretherick
PhD
Investigator, BC Children's Hospital
Tindale LC and Zeng A and Bretherick KL and Leach S and Thiessen N and Brooks-Wilson AR
DOI: 10.1159/000430462 PubMed: 26066993Bretherick KL and Leach S and Brooks-Wilson AR
DOI: 10.1016/j.mrfmmm.2014.05.012 PubMed: 25847270Bashash M and Shah A and Hislop G and Treml M and Bretherick K and Janoo-Gilani R and Leach S and Le N and Bajdik C and Brooks-Wilson A
DOI: 10.1371/journal.pone.0059157 PubMed: 23527119Bretherick KL and Schuetz JM and Morton LM and Purdue MP and Conde L and Gallagher RP and Connors JM and Gascoyne RD and Berry BR and Armstrong B and Kricker A and Vajdic CM and Grulich A and Hjalgrim H and Smedby KE and Skibola CF and Rothman N and Spinelli JJ and Brooks-Wilson AR
DOI: 10.1371/journal.pone.0074619 PubMed: 24069324Bretherick KL and Bu R and Gascoyne RD and Connors JM and Spinelli JJ and Brooks-Wilson AR
DOI: 10.1182/blood-2010-08-304048 PubMed: 2118369912 / 2010
Hanna CW and Bretherick KL and Liu CC and Stephenson MD and Robinson WP
DOI: 10.1093/humrep/deq211 PubMed: 2071656010 / 2010
Bretherick KL and Fairbrother N and Avila L and Harbord SH and Robinson WP
DOI: 10.1016/j.fertnstert.2009.01.064 PubMed: 1929694305 / 2010
Hanna CW and Bretherick KL and Gair JL and Fluker MR and Stephenson MD and Robinson WP
DOI: 10.1093/humrep/dep007 PubMed: 1920214205 / 2009
Bretherick KL and Hanna CW and Currie LM and Fluker MR and Hammond GL and Robinson WP
DOI: 10.1016/j.fertnstert.2007.03.008 PubMed: 1770620202 / 2008
Bretherick KL and Metzger DL and Chanoine JP and Panagiotopoulos C and Watson SK and Lam WL and Fluker MR and Brown CJ and Robinson WP
DOI: 10.1002/ajmg.a.31679 PubMed: 1743189205 / 2007
Bretherick KL and Fluker MR and Robinson WP
DOI: 10.1007/s00439-005-1326-8 PubMed: 1607805308 / 2005
Bretherick K and Gair J and Robinson WP
DOI: 10.1159/000086898 PubMed: 16192703My 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.
2013 Rare Disease Foudnation Microgrant. Castleman Disease
2013 Rare Disease Foundation Microgrant. Hairy Cell Leukemia
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BC Children's Hospital Research Institute operates on the ancestral and unceded territory of the Coast Salish peoples — xʷməθkʷəy̓əm (Musqueam), Sḵwx̱wú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations. Further, this acknowledgement, gratitude, and respect extends to all of the First Nations communities on whose territories the Research Institute builds relationships and operates in British Columbia.
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