Speaker: 

Dr. Noemie Villeneuve-Cloutier
Dr. Emma Gillesse
Dr. Michel Boutin
Dr. Nathalie Lepage

Autosomal recessive SLC39A8-related manganese deficiency: phenotypic spectrum and efficacy of treatment with manganese supplementation
Speaker: Dr. Noemie Villeneuve-Cloutier

Review the clinical, biochemical and radiologic phenotype of SLC39A8-related manganese deficiency in the largest cohort to date. Discuss manganese supplementation as a treatment.

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

  • Describe the phenotype of SLC39A8-related manganese deficiency

Target Audience: Clinical Geneticists, Trainees
CanMEDS Roles: Medical Expert (the integrating role), Health Advocate

Dr. Noémie Villeneuve-Cloutier completed her residency in Medical Genetics and Genomics at the University of Ottawa. She is completing a fellowship in Clinical Biochemical Genetics at The University of Toronto. She has an interest in medical education and treatable genetic conditions.

The significant contribution of a common hypomorphic variant to SLC39A8-related manganese deficiency: a recurrent treatable neurodevelopmental disorder
Speaker: Dr. Emma Gillesse

This presentation will detail how we identified the significant, and previously unappreciated, role of a common hypomorphic variant in the pathogenesis of SLC39A8-related manganese deficiency. We will highlight key molecular, clinical, and biochemical findings from the cohort of 40 individuals with undiagnosed neurodevelopmental delay who have rare, damaging SNVs in SLC39A8, in trans with the common p.Ala391Thr variant. This presentation will also include a discussion of our gaps in knowledge, current barriers, and future steps to support timely diagnosis and treatment of this disorder.

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

  • Recognize SLC39A8-related manganese deficiency as a previously underappreciated treatable neurodevelopmental disorder
  • Evaluate the impact of common hypomorphic variants in the pathogenesis of rare Mendelian disease
  • Identify current challenges to the molecular and biochemical diagnosis of SLC39A8-related manganese deficiency

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

Dr. Emma Gillesse is a postdoctoral fellow with Care4Rare Canada at the Children’s Hospital of Eastern Ontario Research Institute. She received her PhD in Medical Sciences with a specialization in Molecular and Medical Genetics from the University of Calgary. Her research focuses on the application of new sequencing technologies to identify of novel disease genes and molecular mechanisms. She is passionate about advancing our understanding of rare genetic disease to help provide timely diagnoses for patients and their families.

Multiplex analysis of maleic acid and succinylacetone for differential diagnosis and characterization of maleylacetoacetate isomerase deficiency and tyrosinemia type 1
Speaker: Dr. Michel Boutin

We describe a novel method for simultaneous assay of maleic acid and succinylacetone and demonstrate its utility to distinguish between tyrosinemia type 1 and MAAI deficiency. We describe the application of this assay to samples from a cohort of individuals in Québec who came to clinical attention through newborn screening. We also discuss its relevance to differential diagnosis during the process of confirmatory testing.

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

  • Identify a biomarker allowing the differentiation between tyrosinemia type 1 and maleylacetoacetate isomerase deficiency (MAAID).
  • Compare the clinical phenotypes of tyrosinemia type 1 and maleylacetoacetate isomerase deficiency (MAAID).

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

Michel Boutin is a mass spectrometry specialist. He received his Ph.D. degree in chemistry from the University of Montreal in 2006. After three postdoctoral training periods, related to various applications of mass spectrometry, he worked for two years as project leader for the proteomics platform of Laval University (Quebec City). From 2011 to 2023, Michel was the technical director of the Waters-CHUS Expertise Centre in Clinical Mass Spectrometry in Sherbrooke, where he played a key role in many research projects related to the discovery of new Fabry disease biomarkers. Since 2023, he works as a scientific specialist within the clinical biochemical genetics laboratory of the Medical Genetics Service at the Centre hospitalier universitaire de Sherbrooke (CHUS). He is also an adjunct professor in the Faculty of Medicine and Health Sciences of the University of Sherbrooke.

Implementation of newborn screening for childhood cerebral adrenoleukodystrophy in Ontario
Speaker: Dr. Nathalie Lepage

The presentation will describe the approach used to screen more than 100,000 newborns, with the use of first-, second- and third tier methodologies. Presentation will also include screening and diagnostic results from the newborn screen positive patients

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

  • Describe the approach taken in Ontario to provide newborn screening for childhood cerebral adrenoleukodystrpohy

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

Dr. Nathalie Lepage is Professor in the department of Pathology and Laboratory Medicine at the University of Ottawa, Canada. She is a laboratory biochemical geneticist in the Biochemistry laboratory of Newborn Screening Ontario, a fellow from the Canadian Academy of Clinical Biochemistry (CACB) and a fellow from the Canadian College of Medical Geneticists. Current areas of clinical and research interests are in method improvement in the field of biochemical genetics disorders, pediatrics laboratory medicine, and laboratory management.

Event Timeslots (1)

Afternoon
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Speakers: Dr. Noemie Villeneuve-Cloutier, Dr. Emma Gillesse, Dr. Michel Boutin, and Dr. Nathalie Lepage