Christiane Auray-Blais

Manon Bouchard

Sarah Dyack

Gordon Francis

Aneal Khan

Sara Khangura

Mark Korson

Anita MacDonald

Devidas Menon

Martin Offringa

Jill Patterson

Asuri N. Prasad

Tony Rupar

Andreas Schulze

Graham Sinclair

Sandra Sirrs

Sylvia Stockler-Ipsiroglu

Stephen Strom

Mark Tarnopolsky

Clara van Karnebeek

Jerry Vockley

Paula Waters

David A. Weinstein

Michael L. West

Nataliya Yuskiv


Christiane Auray-BlaisChristiane Auray-Blais, Quebec Provincial Mass Neonatal Urinary Screening Program

Christiane Auray-Blais is the Director of the Quebec Provincial Mass Neonatal Urinary Screening Program for hereditary metabolic disorders. More than 3,200,000 newborn babies were screened in the Province of Quebec for 25 disorders of amino acids and organic acids. She holds a Ph.D. in radiobiology from the Faculty of Medicine and Health Sciences (FMHS) at the Université de Sherbrooke and postdoctoral studies from Duke University Medical Center in North Carolina, US. She has a master’s degree in Health Law from the Faculty of Law at the Université de Sherbrooke and a bachelor’s degree in biochemistry. She is the author of more than 235 publications, abstracts and articles. She is a professor in the Medical Genetics Division in the Department of Pediatrics at the FMHS and a researcher at the Clinical Research Centre at CHUS in Sherbrooke, and in the Mother-Child Axis. She is the Scientific Director for the Waters-CHUS Expertise Centre in Clinical Mass Spectrometry. She is the principal investigator and co-investigator in numerous research grants. She has received awards for her involvement and expertise in preventive genetic medicine.

Back To Top



Sarah Dyack, Dalhousie University

Dr. Sarah Dyack is a Medical Geneticist in Halifax Nova Scotia. She has experience in the treatment of Pediatric Fabry disease, including ERT in young patients. She is also involved in the CFDI and clinical trials research related to Fabry Disease.

Back To Top



Manon BouchardManon Bouchard, CHU Sainte-Justine

Manon Bouchard: Division of Medical Genetic, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal I am graduated from the Université de Montréal (1992). I have worked at CHU Sainte-Justine since 1995. I am specialized in nutritional treatment of Inherited Metabolic Diseases since 2001. At the Université de Montréal I have been invited to give annual lectures on inborn errors of metabolism for the Nutrition Department (since 2001) and in the Genetic Counselors Program (since 2002). I am a member of the OPDQ, GMDI and RDMMQ. I have developped many teaching tools for families and patients with metabolic disorders including tyrosinemia type 1. Because of my interest in tyrosinemia type 1, I have also been invited to speak on this subject at several International Meetings.

Back To Top



Gordon FrancisGordon Francis, University of British Columbia

Dr. Gordon Francis is an endocrinologist and Professor of Medicine in the Centre for Heart Lung Innovation and Department of Medicine at St. Paul’s Hospital, UBC. Dr. Francis completed his BSc (Hons) in Biochemistry at Simon Fraser University, followed by MD training at McGill University, internship and internal medicine residency at UBC, and fellowship in endocrinology and metabolism at the University of Alberta. He was then a senior research fellow for 4 years studying basic and clinical lipid and lipoprotein metabolism at the University of Washington in Seattle. From 1994-2007 he was a member of the CIHR Group in Molecular and Cell Biology of Lipids and from 2000-2007 Director of the Cardiovascular Risk Reduction Clinic at the University of Alberta. In 2007 he returned to his home city of Vancouver to join the Centre for Heart Lung Innovation (formerly UBC James Hogg Research Centre) and direct the Healthy Heart Program Prevention (former Lipid) Clinic. Establishment of his laboratory in this Centre at St. Paul’s Hospital was funded by the Heart and Stroke Foundation of BC and Yukon. He holds research funding from CIHR and the Heart and Stroke Foundation of Canada, and is the principal investigator for a Canadian Foundation for Innovation Leading Edge Fund award funded in 2012, “Molecules to Human: Enhanced phenotyping for the discovery,prevention, & treatment of heart, lung, & blood vessel disease”. Previous awards have included an Alberta Heritage Foundation for Medical Research Senior Scholar Award, the University of Alberta Department of Medicine Award for Excellence in Academic Mentoring, and the Royal College of Physicians and Surgeons of Canada Medal in Medicine.

Dr. Francis’ research studies mechanisms of intracellular trafficking of cholesterol as it relates to expression of the membrane lipid transporter ATP-binding cassette transporter A1 (ABCA1) and high density lipoprotein (HDL) formation. Key observations from his research include identification of the defect in apolipoprotein-mediated lipid efflux from Tangier Disease cells (J Clin Invest 1995), demonstration of impaired ABCA1 regulation and HDL formation in the lysosomal cholesterol storage diseases Niemann-Pick Disease Type C and Cholesteryl Ester Storage Disease (J Biol Chem 2003, 2006, 2011), and the ability of HDL oxidized by tyrosyl radical to enhance cholesterol removal from cells, reduce development of atherosclerosis, and stabilize ABCA1 against degradation (PNAS USA 1993, J Biol Chem 1998, ATVB 2003, BMC Biochemistry 2012). His laboratory recently reported that smooth muscle cells represent at least 50% of all intimal foam cells, have a specific defect in ABCA1 expression, and comprise a large percentage of macrophage marker-expressing cells in human coronary atherosclerosis (Circulation 2014). He is also a member of the Canadian Cardiovascular Society Consensus Panel for the Diagnosis and Treatment of Dyslipidemia for the Prevention of Cardiovascular Disease.

Back To Top



Aneal Khan, University of Calgary

Dr. Aneal Khan is an Assistant Professor of Medical Genetics and Pediatrics, and works at the University of Calgary and Alberta Children’s Hospital, where he takes care of both pediatric and adult patients. As a pediatrician, medical geneticist and metabolic diseases specialist, the primary focus of his clinical research is on inborn errors of metabolism with the primary goal to investigate novel methods of treatment of childhood onset genetic diseases.

Currently, Dr. Khan is involved as a principal investigator in clinical trials with enzyme replacement therapies, liver cell transplant for urea cycle disorders, vibration therapy for disability from metabolic diseases, gene therapy for Fabry disease, next generation sequencing for mitochondrial disorders, bone imaging in metabolic diseases, metabolic cardiomyopathies and rare disease registries.

Back To Top



Sara Khangura, University of Ottawa

Sara Khangura has worked in the field of clinical epidemiological research for 15 years. With degrees in communications and public health, her career spans the fields of informed patient decision making; knowledge synthesis methods, and; rare pediatric disease epidemiology. She has co-authored more than 10 peer reviewed publications and book chapters. Currently, she is a research associate with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN).

Back To Top



Mark KorsonMark Korson, Genetic Metabolic Center for Education

Dr. Korson graduated from the University of Toronto School of Medicine and completed his pediatric residency nearby at The Hospital for Sick Children. After a fellowship in genetics and metabolism at Boston’s Children’s Hospital, he became director of the Metabolism Clinic at Children’s until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center’s Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine until 2014. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education, a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. The components of the GMCE include a consultation and clinical support service, as well as a range of live and online educational programming. Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. Before the GMCE was established, between 2007 and 2011, Dr. Korson directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US that had no on-site metabolic service. The goal was to provide educational and consultative support so that non-metabolic clinicians could learn how to participate more in the diagnosis and management of patients with metabolic disease. That same year, Dr. Korson also co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders.

Back To Top



Anita MacDonaldAnita MacDonald, Birmingham Childrens Hospital

Dr Anita MacDonald OBE, is Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children’s Hospital, and an Honorary Professor in Dietetics at Plymouth University, UK. She has a wealth of experience in paediatric dietetics, having worked as a clinical dietetic specialist for almost 40 years. She is a Fellow of the RCPCH. Her involvement in aspects of inherited metabolic disorders (IMD) has spanned almost all her working life. Dr MacDonald obtained her PhD in phenylketonuria (PKU) in 1999 and is actively involved in all aspects of IMD nutritional research, as well as teaching and development in this discipline. She has extensive research experience and more than 350 publications. She has lectured in more than 40 different countries on topics relating to nutrition, and has delivered the BDA/Plymouth University Inherited Metabolic Disease Training Masters Module since its introduction. Dr MacDonald is a member of numerous UK and international Committees, including the Chair of the European Expert Nutrition Panel in Phenylketonuria (ENEP) and Chair of the UK BIMDG Dietitians Group.

Back To Top



Devidas MenonDevidas Menon, University of Alberta

Devidas Menon is professor of health policy and management in the School of Public Health, University of Alberta. Prior to this, he held the positions of CEO of the Institute of Health Economics, and founding Executive Director of the Canadian Coordinating Office of Health Technology Assessment (now called the Canadian Agency for Drugs and Technologies in Health). He has served on numerous provincial, national and international committees/organizations in the area of health technology assessment (HTA). His research interests are in HTA and health technology policy and decision-making. He is the Principal Investigator for a CIHR Team Grant (PRISM – Promoting Rare-disease Innovations within Sustainable Mechanisms). He also teaches Canadian health policy and technology assessment for health care to students enrolled in graduate programs in the University of Alberta.

Back To Top



Martin OffringaMartin Offringa, Hospital for Sick Children

Dr. Martin Offringa is a practicing neonatologist and clinical epidemiologist. Trained in Amsterdam, Rotterdam and at Tufts University in Boston, he was Professor of Pediatrics at the University of Amsterdam, Co-Director of the Dutch National Paediatric Pharmacotherapy Expertise Network (NKFK) and founding Director of the Medicines for Children Research Network (MCRN) in the Netherlands. The Dutch Ministry of Health funded both networks. Since 2009, he chairs the steering group of STaR Child Health, an international initiative that aims to enhance the design, conduct and reporting of clinical trials in children. In 2011, he received a partner grant in the European consortium Global Research in Paediatrics (GRIP), funded by the EU 7th Framework Programme. GRiP aims to create consensus on international standards, methodologies and interoperability tools for paediatric research. The development, validation and harmonization of research tools specific for paediatrics will identify and fill important gaps in current paediatric medicines research methods. In 2012, Dr. Offringa was appointed as Senior Scientist and Head of the Child Health Evaluative Sciences Program at SickKids. He holds a clinical appointment in the Division of Neonatology and is a Professor in the Department of Paediatrics and the Institute of Health Policy, Management and Evaluation (iHPME) at the University of Toronto. Visit http://www.sickkids.ca/Research/EnRICH/index.html for more information.

Back To Top



Jill Patterson, University of Manitoba / Children’s Hospital Research Institute of Manitoba

Jill Patterson is a Research Coordinator for Metabolic Disorders Clinical Trials Research Team in conjunction with the Program in Genetics and Metabolism (Winnipeg Regional Health Authority), the Children’s Hospital Research Institute of Manitoba and the University of Manitoba in Winnipeg, Manitoba. She has graduated with a M.A. in Sociology from the University of Manitoba, with a research background in both qualitative and quantitative research methods. Jill is the Winnipeg site coordinator for the Canadian Fabry Disease Initiative (CFDI). She works with the site investigators Dr. Cheryl Rockman-Greenberg Dr. Aziz Mhanni and Dr. Patrick Frosk. The CFDI study is a longitudinal research study examining the effectiveness of different enzyme replacement therapy drugs in treating Fabry disease, as well as examining disease progression in Fabry patients who are not receiving enzyme replacement therapy. She has been asked to represent the Winnipeg site at this Fabry symposium presenting on two unique pediatric patients in the CFDI study who have developed high levels of antibodies to the enzyme replacement therapy drug.

Back To Top



Asuri Narayan PrasadAsuri N. Prasad, University of Western Ontario

Asuri Narayan Prasad, MBBS, MD, FRCPC, FRCPE is a Professor in Pediatrics and Clinical Neurosciences at the Schulich School of Medicine and Dentistry at the University of Western Ontario, London, Ontario Canada. He is currently in full time practice as an academic pediatric neurologist on Staff at Children’s Hospital, London Health Sciences Centre. He is also appointed as an Associate Scientist at Child Health Research Institute (CHRI) affiliated with the Children’s Hospital. His research interests focus on pediatric epilepsy, the interface between genetics, metabolism and neurological disorders in childhood. He serves as a pediatric neurologist in the Neurometabolic (multidisciplinary) service at the Children’s Hospital in London since 2005. He has numerous peer reviewed publications and abstracts to his credit in high impact journals including; “Epilepsia”, “Brain”, “Neurology”, Journal of Child Neurology”, “Molecular Genetics and Metabolism” and the “Canadian Journal of Neurological Sciences”. He has served as President of the Canadian Association of Child Neurology (2013-2015) and is a member of the Board of Directors of the Canadian Neurosciences Federation. He has served on national and international academic societies (Canadian Neurosciences Federation, American Epilepsy Society) and provincial task force on genetic testing in epilepsy. He is committed to improving the lives of children with epilepsy and neurological disorders and their families.

Back To Top



Tony Rupar, Western University

Tony Rupar is the Director of the Biochemical Genetics Diagnostic Laboratory at the London Health Sciences Centre and Professor in the Department of Pathology and Laboratory Medicine, Western University, London ON. He has two main areas of research interests: gene therapy in the pre-clinical treatment of metachromatic leukodystrophy and the diagnosis of genetic diseases and the provision of genetic health care to Amish and Mennonite populations. Tony has also been active on advisory committees to the Ontario Ministry of Health and Long Term Care on the provincial newborn screening program. Tony completed his undergraduate and doctoral studies in biochemistry at Western University, a post-doctoral fellowship in pharmacology at the University of Cambridge and a fellowship in Biochemical Genetics in the Canadian College of Medical Geneticists. Tony is likely the longest serving Chairman of the Garrod Association.

Back To Top



Andreas Schulze, Hospital for Sick Children

Dr. Schulze is an expert in pediatric metabolic medicine with longstanding experience in diagnosis and management of patients with inherited metabolic diseases. He graduated from Medical School at the University of Leipzig, Germany, received post-doctoral training in Physiological Biochemistry at the Institute of Biochemistry in Leipzig and in Pediatrics at the University Children Children’s Hospital of the Ruprecht-Karls-University of Heidelberg. He is actually an Associate Professor in Pediatrics at the University of Toronto. In the Research Institute of the Hospital for Sick Children in Toronto, Dr. Schulze has established a research laboratory with focus on Creatine metabolism that aims for elucidating the pathophysiology of the diseases, timely diagnosis, and especially the development of novel treatments. He participated and participates in a number of clinical studies related to Urea Cycle Defects and is Site-PI in the Urea Cycle Disorder Consortium.

Back To Top



Graham SinclairGraham Sinclair, BC Children’s Hosptial/University of British Columbia

Dr. Sinclair is a biochemical geneticist in the Biochemical Genetics and Newborn Screening Laboratories at BC Children’s Hospital in Vancouver and head of the departmental research program. He is also a clinical Associate Professor in the Department of Pathology and Laboratory Medicine and a member of the Child and Family Research institute at the University of British Columbia. His research interests include the applications of mass spectrometry for the diagnosis of inborn errors of metabolism and newborn screening along with combined genomic and metabolomic approaches to the investigation of rare diseases.

Back To Top



Sandra SirrsSandra Sirrs, Vancouver General Hospital

Sandra Sirrs is a Professor in the Division of Endocrinology at the University of British Columbia. She is the medical director of the Adult Metabolic Diseases Clinic at Vancouver General Hospital. She is one of 5 regional principal investigators in the Canadian Fabry Disease Initiative.

Back To Top



Sylvia Stockler-IpsirogluSylvia Stockler-Ipsiroglu, University of British Columbia & British Columbia Children’s Hospital

As a pediatrician, neurologist and biochemical geneticist, Sylvia Stockler-Ipsiroglu is Professor of Pediatrics at the University of British Columbia and Head of the Division of Biochemical Diseases at British Columbia Children’s Hospital in Vancouver.

Dr. Stockler’s daily work in rare diseases is driven by the goals of improving existing treatments while also identifying new therapies. To that end, she has played a leading role in the development and dissemination of the Treatable Intellectual Disabilities (TIDE) Protocol, which screens children with unexplained intellectual disability for treatable causes (www.tidebc.org).

Dr. Stockler participates as both principal and co-investigator in several national and international clinical trials and disease registries, which mandates to find evidence for new and existing therapies for rare diseases. She is co-investigator in the Canadian Inherited Metabolic Disease Research Network (www.cimdrn.ca) and the current president of the Canadian Garrod Association (www.garrod.ca).

Dr. Stockler has, to date, published over 200 peer reviewed articles and book chapters. She has trained numerous fellows who are now in leadership positions in the field of inborn errors of metabolism and biochemical genetics.

As faculty member of the North American Metabolic Academy (www.simdnama.org) Dr. Stockler teaches biochemical genetics to fellows and residents specializing in the field and supervises numerous PhD students engaged in rare disease research and concepts of individualized patient care.

Back To Top



Stephen Strom, Karolinska Institutet

Dr. Strom’s group was the first to use allogeneic hepatocyte transplants to treat liver disease in patients and the first to receive an IND from the FDA for hepatocyte transplantation. His group has treated more than 30 patients with hepatocytes. He has developed a new stem-like cells from human amnion for the cellular therapy of liver disease and will begin patients transplants with this new stem cell shortly. He recently moved to Karolinska Institutet in Stockholm, Sweden. His previous employments were at University of Pittsburgh for nearly 20 years, Virginia Commonwealth University (5 years) and Duke University for 10 years. He is currently the Torsten and Ragnar Söderberg Professor of Cell Transplantation and Regenerative Medicine at Karolinska Institutet.

Back To Top





Mark TarnopolskyMark Tarnopolsky, McMaster University

Prof. Mark Tarnopolsky is the Clinical and Research Director of the Corkins/Lammert Family Neuromuscular and Neurometabolic Clinic at McMaster University. He holds an endowed chair at McMaster Children’s Hospital and Hamilton Health Sciences Foundation in Neuromuscular Diseases and is a Professor of Pediatrics and Medicine. His research focuses on nutritional, exercise and pharmacological therapies for neurometabolic (primarily mitochondrial) and neuromuscular disorders, and aging. His main research focus is on the biology of exosomes and their potential utility as a form of genetic therapy for neurometabolic and neuromuscular disorders. In addition, he studies the physiological and molecular aspects of mitochondrial adaptation to exercise and the effects of aging on skeletal muscle and mitochondria.

Back To Top



Clara van KarnebeekClara van Karnebeek, University of British Columbia

Clara van Karnebeek, MD PhD FCCMG, is an Assistant Professor in the Department of Pediatrics at the University of British Columbia, and works as certified pediatrician and biochemical geneticist at BC Children’s Hospital in Vancouver, Canada. She is a Scientist at Centre for Molecular Medicine and Therapeutics, Child & family Research Institute, and a Michael Smith Foundation for Health Research Scholar. (http://www.cmmt.ubc.ca/research/investigators/vankarnebeek/lab).

In the TIDE-BC program (www.tidebc.org), Clara integrates her clinical work with research to promote early diagnosis and treatment of neurometabolic diseases in children presenting with intellectual developmental disorders. She established the multi-disciplinary Complex Diagnostic Clinic in BC Children’s hospital in 2011, providing a novel model of care for children with unexplained neurodevelopmental disabilities. Furthermore, her international team applies genomic and metabolomics technologies to discover and publish novel genetic conditions (e.g. carbonic anhydrase VA deficiency). She has a special interest in the treatment of pyridoxine dependent epilepsy and creatine deficiencies, and the use of digital tools to enhance rare disease care. Furthermore Clara is the Medical Co-Director of the CAUSES Clinic, established in 2015 in BC Children’s Hospital to provide genome-wide sequencing as clinical service for children with undiagnosed rare conditions. She is passionate about translating genomics into disease-­‐modifying interventions, and an article (on which she is senior author with more than 55 co-authors) reporting such personalized medicine strategies for children with neurometabolic phenotypes is currently in press in the New England Journal of Medicine. Collaboration in pediatric research is key, and she values working with colleagues with different interest and expertise.

Clara loves to teach and supervise students in clinical medicine and basic science. She has published over 65 peer-reviewed journal articles, multiple clinical guidelines and several chapters in neurology textbooks, holds multiple national and international research grants, and is regularly invited to lecture at international conferences. Her contributions to research and clinical care have been recognized by a.o. the CIHR (Maud Menten Principal Investigator Prize 2013) and the Canadian Organization for Rare Diseases (Scientific Award 2016). Since 2015 is the Lead of the Rare Diseases Group in the Child and Family Research Institute, building a Discovery Hub to help children and families with rare diseases in BC and beyond.

She is married and the proud mother of 2 sons, with whom she loves to ski on the Canadian mountains!

Back To Top



Jerry VockleyJerry Vockley, Children’s Hospital of Pittsburgh

Cleveland Family Professor of Pediatric Research, School of Medicine
Professor of Human Genetics, Graduate School of Public Health
Chief of Medical Genetics, Children’s Hospital of Pittsburgh
Director of the Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh
Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.
Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His lab has been responsible for identifying multiple new disorders since the year 2000, many of them defects in mitochondrial energy metabolism, and he has published over 170 scientific articles in peer review journals. His current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD). He is also a volunteer medical advisor for several parent and family support groups including the Fatty Acid Oxidation Family Support Group, Save Babies through Screening, United Mitochondrial Disease Foundation, and the Organic Acidemia Support Group. He speaks at multiple family support functions throughout the year for CanPKU and the NPKU Alliance.
Dr. Vockley is the co-founder and editor of the North American Metabolic Academy established by the SIMD to help educate the next generation of metabolic physicians in the United States, and serves as associate editor for the journal Molecular Genetics and Metabolism. Dr. Vockley was recognized in 2002 as the Research Educator of the Year while at the Mayo Clinic. At the University of Pittsburgh, Dr. Vockley teaches in the both the Medical School and Graduate School of Public Health. Dr. Vockley has mentored numerous Ph.D. candidates, post-doctoral fellows, and undergraduate in their research.

Back To Top



Paula WatersPaula Waters, Centre hospitalier universitaire de Sherbrooke (CHUS)

Paula Waters is a laboratory-based biochemical geneticist with more than twenty-five years’ experience related to inherited metabolic disorders. After stumbling fortuitously into this field during her first summer student job in England, she completed a PhD in the area of lysosomal disorders. She crossed the Atlantic in 1994, to pursue postdoctoral research with Charles Scriver at McGill University, focussing on phenylalanine metabolism and functional expression studies of mutant enzymes. In 2002 she went to BC Children’s Hospital in Vancouver, obtained CCMG specialty training and became a clinical laboratory scientist. Five years ago, rather to her surprise, she was recruited as biochemical genetics lab director for the Centre hospitalier universitaire de Sherbrooke (CHUS), and thus returned to the province of Quebec. In between keeping this busy clinical service lab humming along and moving forward, she participates in teaching and enjoys being actively involved in collaborative research. Various current projects touch on a range of different inborn errors of metabolism.

Back To Top



David A. WeinsteinDavid A. Weinstein, University of Florida College of Medicine
Order of the Smile International Humanitarian Award (2013)

Following his graduation from Trinity and Harvard Medical School, Dr. Weinstein completed a residency, chief residency, and fellowship in pediatric endocrinology at Boston Children’s Hospital. He subsequently obtained a Masters in clinical investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Boston Children’s Hospital. In 2005, Dr. Weinstein moved to the University of Florida where he directs the Glycogen Storage Disease Program. Dr. Weinstein follows the largest cohort of hepatic GSD patients in the world, and he has over 500 patients who travel to Florida for care from 48 states and 43 countries. He has published over 75 articles and 25 textbook chapters on this topic. Dr. Weinstein was named one of the inaugural Goldwater Scholars in 1989. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he received the George Sacher Award from the Gerontological Society of America. Dr. Weinstein was inducted in the Rare Disease Research Hall of Fame in 2013, and he was awarded a United Nations recognized international humanitarian award for his efforts to help children with glycogen storage disease from around the world.

Back To Top



Michael L. WestMichael L. West, Dalhousie University

Dr. West is currently Professor, Division of Nephrology, Department of Medicine, Assistant Dean Research for Clinical Trials, Dalhousie University, Halifax, Nova Scotia, Canada, past President Canadian Society of Nephrology, Director Nova Scotia Fabry Disease Clinic and principal investigator of Canadian Fabry Disease Initiative, a multicentre national study of enzyme replacement therapy in Fabry disease. He received his medical degree in 1979 from Queen’s University, Kingston, Ontario. Dr. West completed a rotating internship, and internal medicine training at Dalhousie University, Halifax, Nova Scotia from 1979-1983, as well as nephrology training & an MRC research fellowship in renal physiology and acid-base and electrolyte disorders at the University of Toronto from 1983-1986.

Back To Top



Nataliya Yuskiv, University of British Columbia

Dr. Nataliya Yuskiv is a doctoral candidate in the University of British Columbia. She graduated from Medical University in Western Ukraine and Emory University, Rollins School of Public Health. She started to work as a medical geneticist in western Ukraine in 1997, gradually expanding her interests into clinical research and applied epidemiology of inherited disorders. In 2001 she published pivotal abstract revealing epidemic rates of neural tube defects in Western Ukraine. The statistics was derived from the birth defects surveillance, established in 1999 with Dr.Yuskiv’s support. This was the first computerized sustainable public health surveillance system in post-Chernobyl Ukraine. Since she moved to Canada, Dr.Yuskiv continues to contribute to the medical genetics research through contributions to such projects like Treatable Intellectual Disabilities Endeavor in BC (TIDE-BC) and Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Dr.Yuskiv’s recent research projects are dedicated to the improvement of the clinically meaningful outcomes for patients and families with phenylketonuria. Dr.Yuskiv is a recipient of several scholarship awards and research grants.

Back To Top