Speakers: 

Dr. Matthew Henderson
Dr. Rafael Garrett da Costa

Clinical Metabolomics
Speaker: Dr. Matthew Henderson

This talk will provide an introduction to key concepts in high resolution mass spectrometry and describe opportunities and challeges in using this analytical technique in routine newborn screening.

At the end of the session, participants will be able to:

  • Identify opportunities and challenges associated with use of high resolution mass spectrometry in newborn screening

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists
CanMEDS Roles: Medical Expert (the integrating role), Health Advocate, Scholar

Matthew Henderson is Laboratory Director and Head of Biochemistry at Newborn Screening Ontario and an Associate Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa, Canada. He is a fellow of the Canadian Academy of Clinical Biochemistry and the Canadian College of Medical Geneticists with a subspecialty in Laboratory Biochemical Genetics. His work is focused on improving the accuracy and efficiency of newborn screening through development and optimization of biochemical assays as well as development of data analysis approaches and tools.

Routine Screening for Inborn Errors of Metabolism Using Untargeted Metabolomics 
Speaker: Dr. Rafael Garrett da Costa

This talk will discuss the emergence of untargeted metabolomics testing for inborn errors of metabolism (IEM) and the challenges of implementing a routine assay in the biochemical genetics laboratory. It will also explore its potential to improve the detection of disorders not fully captured by conventional assays and to support treatment monitoring in patients with IEM.

At the end of the session, participants will be able to:

  • Identify major challenges and advantages in implementing routine untargeted metabolomics testing for inborn errors of metabolism
  • Differentiate between classical biochemical genetics tests and untargeted metabolomics in the diagnosis of inborn errors of metabolism

Target Audience: Clinical Geneticists, Laboratory Geneticists , Genetic Counsellors , Trainees, Molecular Pathologists, Medical Lab Technologists
CanMEDS Roles: Medical Expert (the integrating role), Scholar

Rafael Garrett is a Clinical Biochemical Genetics Fellow and Senior Staff Scientist at the Department of Laboratory Medicine, Boston Children’s Hospital/Harvard Medical School. He was previously an Adjunct Professor at the Institute of Chemistry, Federal University of Rio de Janeiro (Brazil), and head of the Metabolomics Laboratory. His research currently focuses on Clinical Metabolomics and laboratory diagnosis of Inherited Metabolic Diseases.

Event Timeslots (1)

Breakout Session 1
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Speakers: Dr. Matthew Henderson and Dr. Rafael Garrett da Costa