ASHG 2026 · Hospital & health system

Centre Hospitalier Universitaire Sainte-Justine at ASHG 2026

Montreal, Quebec

Centre Hospitalier Universitaire Sainte-Justine at ASHG 2026 in Montréal: 8 presentations (8 posters); 5 research groups.

8
presentations on the program
5
research groups identified

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OrganizationASHG 2026 Attendance
Centre Hospitalier Universitaire Sainte-Justine
Montreal, Quebec
2 PhD Students · 1 PI · 1 Staff Scientist
Jacquemont Labjacquemont-lab.org
Dry lab~26 people
Analyzes SNVs, indels, CNVs, EHR, EEG, eye tracking and resting-state fMRI data. Uses Quebec 1000 Families and international cohorts to study cognition and neuropsychiatric conditions.
64 papers since 2024
Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment
Translational Psychiatry, 2024
Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders
Cell stem cell, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5076029433
Funded by IRSC/Instituts de recherche en santé du Canada, IRSC/Instituts de recherche en santé du Canada +4 more
IRSC/Instituts de recherche en santé du Canada, PVXXXXXX-(PJT) Subvention Projet · 2024 - 2030
“2024 - 2030 SCALE - Social Cognition in Autism across LEvels Funding sources: IRSC/Instituts de recherche en santé du Canada”
IRSC/Instituts de recherche en santé du Canada, PVXXXXXX-(PJT) Subvention Projet · 2023 - 2030
“2023 - 2030 Combining Space, Time, and cell types to decode and explain the effect sizes of rare genomic variants on cognition and psychopathology Funding sources: IRSC/Instituts de recherche en santé du Canada”
NIH/National Institutes of Health (NIH), PVXXXXXX-Subvention de recherche · 2023 - 2028
“2023 - 2028 Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics Initiative Funding sources: NIH/National Institutes of Health (NIH)”
+3 more on the lab page
Source: lab pages
8 platforms and techniques
Works with
eye tracking, EEG, EHR, resting-state fMRI
Techniques
bioinformatics pipelines, artificial intelligence, genome-wide analysis, randomized controlled trial
Source: lab pages
Currently hiring
“We are currently recruiting!”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
Sex-specific sensitivity to gene dosage across mental health, cognition, and non-brain traits
Epigenomics
Collaborators: Université de Montréal
Complex traitsCopy number/structural variationGenetic variationComputational tools
Poster
Fri Oct 23
2:30 pm
Early predictors of mental health and cognition in carriers of genetic risk variants
Artificial Intelligence and Machine Learning
Collaborators: University of Toronto, University of California San Diego +6 more
Intellectual and developmental disabilityMachine learningNewborn screeningPsychiatric genetics
Manousaki Labmanousakilab.wordpress.com
Dry lab~7 people
Analyzes pharmacogenomic genes with population-genetic, transcriptomic and phenotypic methods. Studies childhood cardiometabolic, bone-health and growth-related diseases and traits.
29 papers since 2024
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nature Genetics, 2024
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause
Genome Medicine, 2024
Mendelian randomization identifies circulating proteins as biomarkers for age at menarche and age at natural menopause
Communications Biology, 2024
Source: OpenAlex author A5053417689
Funded by Fonds de recherche du Québec – Santé (FRQS)
Fonds de recherche du Québec – Santé (FRQS), Chercheur-boursier – Junior 2 · 2025
“2025, Chercheur-boursier – Junior 2 – Fonds de recherche du Québec – Santé (FRQS).”
Source: lab pages
8 platforms and techniques
Techniques
genetic epidemiology, bioinformatics, population genetics, gene-gene interaction, transcriptomic analyses, phenotypic analyses, genome-wide association studies, epigenome-wide association studies
Source: lab pages
Currently hiring
“We welcome talented students and postdoctoral fellows to join our team.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
A Multi-Ancestry Optimization of Polygenic Risk Prediction for Type 1 Diabetes
Complex Traits and Polygenic Disorders
Collaborators: CHU Sainte-Justine Research Center
Polygenic risk scoreDiabetesPopulation geneticsRisk assessment
Pincez Labpincezlab.com
Wet + dry lab~5 people
Uses computational approaches on biobank and patient-cohort data. Advances precision medicine in hematology.
30 papers since 2024
Immunopathology of immune thrombocytopenia
Journal of Thrombosis and Haemostasis, 2026
Haemostasis alterations in immune thrombocytopenia and their clinical significance
Research and Practice in Thrombosis and Haemostasis, 2025
Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome
American Journal of Hematology, 2024
Source: OpenAlex author A5054809726
Funded by Platelet Disorder Support Association, Fondation Cole
Platelet Disorder Support Association, Barbara and Peter T. Pruitt Jr. ITP Research Award · 2025
“Merci à la Platelet Disorder Support Association pour l'octroi du Barbara and Peter T. Pruitt Jr. ITP Research Award”
Fondation Cole, bourse de transition · 2024
“La Fondation Cole qui attribue une bourse de transition au laboratoire.”
Source: lab pages
5 platforms and techniques
Techniques
CRISPR, base editing, single-cell analysis, polygenic scores, Mendelian randomization
Source: lab pages
Currently hiring
“Nous recrutons ! Des opportunités sont disponibles pour des personnes motivées et des étudiants à tous les niveaux.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Rare, common and somatic variants contribute to the risk of autoimmune cytopenia
Complex Traits and Polygenic Disorders
Collaborators: Université de Montréal
Autoimmune disorderBioinformaticsRare variantsRisk assessment
Centre de recherche Azrieli du CHU Sainte-Justine
Works in rare disease and computational genetics.
Poster
Fri Oct 23
2:30 pm
RNA Sequencing as a Tool to Uncover the Molecular Basis of Rare Genetic Diseases
Molecular Effects of Genetic Variation
Alternative splicingTranscriptomeRNA-seqRare variants
Service de Génétique médicale
Works in clinical genetics.
Poster
Wed Oct 21
2:30 pm
Refining eligibility criteria for rapid genomic sequencing in acutely ill pediatric patients: A systematic review and multi-cohort phenotype-informed framework
Health Services Research and Implementation Science
Exome/genome sequencingDiagnosticsPhenotypeClinical testing
2 more presenters — research group not yet identified

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