Clara van Karnebeek Archives | BC Children’s Hospital Research Institute (BCCHR)

News

April 15, 2019

New study is the first to identify an expanded section of DNA as the cause of a rare genetic metabolic disorder
A new study from BC Children’s Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder.
News

January 23, 2018

Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases
Genome Canada’s 2017 Large-Scale Applied Research Project (LSARP) Competition will support six innovative projects led or co-led by investigators at BC Children’s Hospital, an agency of the Provincial Health Services Authority, including:

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Clara van Karnebeek

New study is the first to identify an expanded section of DNA as the cause of a rare genetic metabolic disorder

Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases

For Media