Whole exome sequencing for inborn errors of metabolism

May 26, 2016

Dr. Andre Mattman, Medical Biochemist at St. Paul's Hospital, contributed to a study just published in the New England Journal of Medicine that used deep phenotyping and whole-exome sequencing to investigate patients with intellectual developmental disorder and unexplained metabolic abnormalities.  The techniques lead to a diagnosis in 68% of patients with the identification of 11 new candidate genes, with a change in treatment in 44%.


Exome Sequencing and the Management of Neurometabolic Disorders. NEJM June 9. 2016.