Emilie T. Théberge

ORCID: 0000-0002-7466-7209
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Research Areas
  • Cardiovascular Issues in Pregnancy
  • Cardiac Health and Mental Health
  • Lysosomal Storage Disorders Research
  • Acute Myocardial Infarction Research
  • Genetics and Neurodevelopmental Disorders
  • Lipoproteins and Cardiovascular Health
  • Cardiac Imaging and Diagnostics
  • Ginkgo biloba and Cashew Applications
  • Genetic Neurodegenerative Diseases
  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Health, psychology, and well-being
  • Prenatal Substance Exposure Effects
  • Diabetes, Cardiovascular Risks, and Lipoproteins
  • Nuclear Receptors and Signaling
  • Estrogen and related hormone effects
  • Health Systems, Economic Evaluations, Quality of Life
  • Cardiac Arrest and Resuscitation
  • Pregnancy-related medical research
  • Cerebrovascular and genetic disorders
  • Cognitive Abilities and Testing
  • Sex and Gender in Healthcare
  • Global Health and Epidemiology
  • Cardiovascular Function and Risk Factors
  • Heart Rate Variability and Autonomic Control

University of British Columbia
2017-2025

Vancouver General Hospital
2023

St. Paul's Hospital
2020

Providence Health Care Research Institute
2020

British Columbia Children's Hospital
2018

Abstract Background Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome‐wide analyses can reveal novel genotype–phenotype associations and provide a diagnosis for patients families. Objective The aim was to identify the cause severe progressive disorder phenotype in 2 affected brothers. Methods A family brothers unaffected parents had extensive phenotyping since birth. Whole‐genome long‐read sequencing methods...

10.1002/mds.30101 article EN public-domain Movement Disorders 2025-01-24

Heart disease is the leading cause of premature death for women in Canada. Ischemic heart (IHD) categorized as myocardial infarction (MI) with no obstructive coronary artery (MINOCA), ischemia arteries (INOCA), and atherosclerotic (CAD) MI (MI-CAD) or without (non-MI CAD). This study aims to prevalence traditional non-traditional IHD risk factors their relationships (M)INOCA compared MI-CAD non-MI CAD young women. investigated who presented (≤55 years old) vasomotor entities confirmed by...

10.1016/j.cjco.2023.08.012 article EN cc-by-nc-nd CJC Open 2023-09-01

Background Fetal alcohol spectrum disorders ( FASD ) have a strong genetic component although the genes that underlie this are only beginning to be elucidated. In present study, one of most common phenotypes , cell death within early developing neural tube, was examined across reference population in reverse genetics paradigm with goal identifying loci could influence ethanol (EtOH)‐induced apoptosis tube. Methods BXD recombinant inbred mice as well parental strains were used evaluate...

10.1111/acer.13947 article EN Alcoholism Clinical and Experimental Research 2018-12-27

Despite advances in screening and prevention, rates of premature coronary artery disease (CAD) have been stagnant. The goals this study were to investigate the barriers early risk detection preventive treatment patients with CAD. In particular, we: 1) assessed performance latest versions major international guidelines CAD eligibility for treatment; and, 2) investigated real-life utilization primary prevention lipid-lowering therapies these patients.

10.1016/j.ajpc.2020.100036 article EN cc-by-nc-nd American Journal of Preventive Cardiology 2020-06-01

Abstract Background Fabry disease (FD) is an X-linked disorder caused by deleterious variants in GLA. Cardiovascular (CVD) causes premature mortality FD. Hope for aspirin (acetylsalicylic acid, ASA) to reduce CVD risks FD as primary prevention may have been tempered the 2018 ARRIVE, ASCEND, and ASPREE clinical trials. It unclear how new ASA guidance applies patients, who a high rate of young-onset, small vessel stroke compared with general population. Methods Longitudinal data spanning...

10.1101/2024.07.17.24310571 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-07-17

Accurate diagnosis is the cornerstone of medicine. This particular relevance to rare genetic diseases (RGD) in which an accurate molecular can enable understanding their cause, progression, and familial risks. Advances technologies may offer improvement diagnostic yield.

10.1016/j.gimo.2024.101486 article EN cc-by-nc-nd Genetics in Medicine Open 2024-01-01

Abstract Background Trinucleotide repeat expansions are an emerging class of genetic variants associated with several movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients families. Objectives To identify the cause severe progressive disorder phenotype in two affected brothers. Methods A family brothers unaffected parents had extensive phenotyping natural history followed since birth. Whole-genome long-read...

10.1101/2024.06.05.24308127 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-06-05

Abstract Background Myocardial infarction with no obstructive coronary arteries (MINOCA) and ischemia (INOCA), are female predominant conditions, a lack of clinical trials guiding medical management for the common underlying vasomotor etiologies. Long-term outcomes (M)INOCA patients following attendance at women’s heart center (WHC) lacking. Methods Women diagnosed MINOCA (n=51) or INOCA (n=112) were prospectively followed 3 years Vancouver WHC. Baseline characteristics, diagnoses, chest...

10.1101/2024.06.24.24309437 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-06-25

Abstract Introduction Coronary artery disease (CAD) is the leading cause of death around world, with well-described epidemiological sex and gender differences in prevalence, pathophysiology management outcomes. It has been hypothesized that steroids, like estrogen, may contribute to these differences. There a relatively large genetic component developing CAD, heritability estimates ranging between 40-60%. In last two decades, computational methods, capabilities scalability genome-wide...

10.1101/2024.08.29.24312812 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-08-30

Our research aim is to identify the genes responsible for underlying molecular mechanisms mediating apoptotic cell death in developing central nervous system following prenatal alcohol exposure a mouse model.

10.1212/wnl.88.16_supplement.p3.201 article EN Neurology 2017-04-18

Abstract Funding Acknowledgements Type of funding sources: None. Background/Introduction Cardiovascular disease is expected to reach an annual mortality rate 23 million individuals by 2030, primarily due acute coronary syndrome (ACS) and cerebrovascular events. Simply stating the associated with cardiovascular underrepresents its true burden considering disability, healthcare expenditure, loss quality life. Specifically, there has been increasing interest in prevalence depression anxiety...

10.1093/eurjpc/zwac056.052 article EN European Journal of Preventive Cardiology 2022-05-01

Abstract Major depressive disorder (MDD) is a leading cause of morbidity and disability worldwide, with approximately twice as many women reported to have lifetime occurrence MDD than men. polygenic trait, wherein hundreds thousands common genetic variants small effect sizes contribute risk disease. This study investigated sex differences in the factor comorbidity architecture over 16,000 people aged 45-85 from Canadian Longitudinal Study on Aging (CLSA), 21% females (n=1,741) 12% males...

10.1101/2023.04.10.23288267 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2023-04-17

Background Heart disease is the leading cause of premature death for women in Canada. Ischemic heart (IHD) categorized as myocardial infarction (MI) with no obstructive coronary artery (MINOCA), ischemia arteries (INOCA), and atherosclerotic (CAD) MI (MI-CAD) or without (non-MI CAD). This study aims to prevalence traditional non-traditional IHD risk factors their relationships (M)INOCA compared MI-CAD non-MI CAD young women. Methods investigated who presented (≤55 years old) vasomotor...

10.1101/2023.05.13.23289927 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2023-05-17

Abstract Background Type 2 diabetes mellitus (T2D) is a major cardiovascular risk factor (CVRF), and comprehensive management reduces the incidence of events. Purpose To assess 1) prevalence T2D among patients presenting with newly diagnosed very premature coronary artery disease (CAD) its impact on CVRFs extent atherosclerosis; 2) effectiveness glucose lipid control in before presentation CAD. Methods We studied angiographically proven CAD stenosis ≥50% who presented at age ≤50 years for...

10.1093/ehjci/ehaa946.2837 article EN European Heart Journal 2020-11-01
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