University of British Columbia Study to Identify Cause of Rare Genetic Metabolic Disorder

Apr 16, 2019 | Genetic, Metabolic Disease

The University of British Columbia (UBC), BC Children’s Hospital, and an international team of investigators published in the New England Journal of Medicine a rarely-seen type of DNA mutation as the potential cause of an inherited metabolic disorder.

Often the result of a defective gene, inherited metabolic disorders, the body cannot break down specific nutrients from food leading to range of serious health problems. The researchers found an unusual genetic mutation behind three children’s undiagnosed, degenerative conditions: a repeat expansion of DNA. In this specific mutation, the gene appears undamaged but does not function because the DNA adjacent to it has extended several hundred times its normal length the researchers report in EurekAlert!  For more information follow the link below.

Lead Research/Investigator

Dr. Clara van Karnebeek


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