Research

The faculty of the Metabolism and Newborn Screening Program are involved in the following research areas: 

  • The molecular and pathophysiological basis of rare diseases, especially in regard to inborn errors of metabolism. Many of the Metabolics Program publications relate to the description of novel metabolic disorders, expanding the phenotype of known disorders and finding the genes responsible for metabolic diseases. 
  • Long-term outcomes of the management and treatment of inborn errors of metabolism through a national consortium to examine patient outcomes, experiences and costs of treating inborn errors of metabolism. 
  • Application of technology including next generation sequencing (NGS) to screening and diagnosis of inborn errors of metabolism such as development of novel mass spectrometry assays. 
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