About this series – Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.
Zellweger Spectrum Disorders (ZSD) – Evolving Clinical, Biochemical and Molecular Heterogeneity
Starting form basic peroxisome biology and biochemistry, we will review peroxisome assembly and contributions to the cellular and tissue milieu. The clinical phenotypes of Zellweger Spectrum Disorder will be discussed, from severe to mild. Atypical and novel phentoypes will be presented. Potential underlying moleclar mechanisms that might explain phenotype severity will be reviewed. Finally, diagnostic approaches and challenges for therapy will be presented.
Learning Objectives:
- Describe the heterogeneity in Zellweger Spectrum disorders
- Integrate newly described phenotypes
- Formulate a diagnostic model for peroxisome disorders
Speaker
Dr. Nancy Braverman
Bio
Dr. Nancy Braverman is currently Professor of the Departments of Pediatrics and Human Genetics at McGill University, attending clinical and biochemical geneticist at the McGill University Health Center (MUHC), and Senior Scientist at the Research Institute of the MUHC. Prior to January 2008, her appointment was at Johns Hopkins University School of Medicine where she was Assistant Professor of the Department of Pediatrics and the McKusick-Nathans Institute of Genetic Medicine. She is a member of professional societies including the Garrod Association, the American College of Medical Genetics, the Society for Inborn Errors of Metabolism, the Society for the Study of Inborn Errors of Metabolism, and the American Society of Human Genetics. She is currently Chair of the ClinGen expert panel on variant curation in peroxisome disorders (2019- present), Advisory Board member of the Journal of Inherited Metabolic Disease (2016-present) and previously served as Chair of the Therapeutics Committee of the American College of Medical Genetics (2017-2019), member of the Board of Directors of the Society for Inborn Errors of Metabolism (2009-2014), member of the New York Mid-Atlantic Consortium for Genetic and Newborn Screening Services (2007-2009). She received her MSc in Genetic Counseling at Sarah Lawrence College, her MD degree from Tulane University School of Medicine, did her pediatrics residency at Yale-New Haven Hospital, pediatrics chief residency at Sinai Hospital of Baltimore, and her genetics fellowship at Johns Hopkins Medical Center. She has authored more than 120 peer-reviewed publications and six book chapters, including peroxisomal disorders in Rudolph’s Pediatrics. As a clinician-scientist, she has dedicated her career to the study of Peroxisome Biogenesis Disorders, initially identifying the disease genes, characterizing the mutation spectrum, generating novel mouse models to study disease pathophysiology and trial candidate therapies. She has been recognized with multiple research and teaching awards.
Dates
September 16 – UBC
October 14 – TBD
November 18 – TBD
December 16 – Ottawa
January 20 – Calgary
February 17 – McGill
March 17 – TBD
April 14 – Toronto
May 19 – Manitoba
June 16 – Montreal
Click HERE to register.
