Neurometabolic disorders: The ones that should not be missed

Topic; Neurometabolic disorders: The ones that should not be missed
Ingrid Tein (The Hospital for Sick Children, Toronto)

January 09, 2021

Learning objectives:

1. To recognize the clinical phenotypes of treatable vitamin- and cofactor-responsive early-onset encephalopathies with seizures

2. To select appropriate diagnostic investigations

3. To apply effective treatment trials

References
Please see attached file

About the speaker

Dr. Tein is Associate Professor of Pediatrics and of Laboratory Medicine and Pathobiology at the University of Toronto and founder and Director of the Neurometabolic Clinic, Investigational Unit and Research Laboratory in 1991, Staff Neurologist in the Division of Neurology and Senior Associate Scientist in the Genetics and Genomic Biology Program in the Research Institute at the Toronto Hospital for Sick Children.

Dr. Tein directs the Neurometabolic Clinic for the investigation and treatment of children with fatty acid oxidation, mitochondrial, and peroxisomal disorders and cofactor-responsive epilepsies. Her Neuroinvestigational Unit includes prospective cross-over cofactor trials in children with mitochondrial disorders and the ergometric investigation of metabolic myopathies using BOLD-MRI and ³¹P-MRS spectroscopy.

The goal of her Laboratory is the biochemical and molecular investigation of genetic fatty acid oxidation defects and development of in vitro disease models to understand the underlying pathophysiological mechanisms in order to develop new therapies. She has identified novel clinical and biochemical phenotypes and genotypes, developed new diagnostic screening tests, and developed novel treatment strategies aimed at bypassing or correcting the specific metabolic block which have decreased long-term morbidity and mortality in affected children and have been implemented internationally.

Her research has been supported by the Medical Research Council of Canada, Canadian Institutes of Health Research, Heart and Stroke Foundation, Muscular Dystrophy Association, United Mitochondrial Diseases Foundation, Foundation for Prader Willi Research, Myositis Association and Rare Diseases Foundation. She founded the Neurometabolic Fellowship program and is Director of the Annual Adam Barsky Lectureship in Mitochondrial Diseases. She has served as Co-Chair of the international NINDS Mitochondrial Diseases Common Data Element Working Group (2014-2017) for development of a neurological assessment toolkit for mitochondrial randomized clinical trials to promote standardized comparisons between studies using clinically relevant endpoints. She has supervised over 30 research trainees in Neurometabolic Diseases which has led to the establishment of new Neurometabolic programs in Canada, the US, Europe, the Middle East and Oceania by her trainees.

Dr. Tein is author of over 145 peer-reviewed original articles and reviews. She has given over 328 invited talks including 147 plenary talks at international conferences in North America, Europe, the Middle East, West Asia, Asia/Oceania, and Central and South America. She is recipient of the Samuel Lunenfeld Foundation Scholarship, Medical Research Council of Canada Scholarship, ICNA John Stobo Prichard Award, Detweiler Fellowship (RCPSC), Menkes Award (UCLA 2012), and Colleen Giblin Award (Columbia University 2013) for her contributions in Child Neurology.

She also received the William A. Hawke award twice for excellence in teaching. She was President of the International Child Neurology Association (2014-2018) and was Co-Scientific Director of the Canadian Mitochondrial Network and Director of the Clinical Research and Therapeutic Discovery Pillar (2018-2019).