Centre Hospitalier Universitaire Sainte-Justine at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

Centre Hospitalier Universitaire Sainte-Justine brings 10 presentations from 5 research groups to ASHG 2026 in Montréal, its home city. Its program centres on rare disease, population genetics, and computational approaches to clinical genetics and therapeutics at this meeting. Jacquemont Lab examines genetic risk and brain structure, Manousaki Lab optimizes multi-ancestry type 1 diabetes risk prediction, and Pincez Lab links rare, common, and somatic variants to autoimmune cytopenia.

Organization	ASHG 2026 Attendance
Centre Hospitalier Universitaire Sainte-Justine Montreal, Quebec	3 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 Wed Oct 21 2:30 pm Part of Molecular Effects of Genetic Variation Poster Wednesday Session Effects of Genetic risk for Neurodevelopmental Disorders on the Molecular structure of the Brain Exhibit & Poster Hall · Board 6080W Collaborators: Université de Montréal AutismNeurodevelopmentalRare variantsTranscriptome Poster Fri Oct 23 2:30 pm Part of Epigenomics Poster Friday Session Sex-specific sensitivity to gene dosage across mental health, cognition, and non-brain traits Exhibit & Poster Hall · Board 7062F Collaborators: Université de Montréal Complex traitsCopy number/structural variationGenetic variationComputational tools Poster Fri Oct 23 2:30 pm Part of Artificial Intelligence and Machine Learning Poster Friday Session Early predictors of mental health and cognition in carriers of genetic risk variants Exhibit & Poster Hall · Board 8065F 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 Part of Complex Traits and Polygenic Disorders Poster Wednesday Session A Multi-Ancestry Optimization of Polygenic Risk Prediction for Type 1 Diabetes Exhibit & Poster Hall · Board 8195W 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 Part of Complex Traits and Polygenic Disorders Poster Wednesday Session Rare, common and somatic variants contribute to the risk of autoimmune cytopenia Exhibit & Poster Hall · Board 8317W 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 Part of Molecular Effects of Genetic Variation Poster Friday Session RNA Sequencing as a Tool to Uncover the Molecular Basis of Rare Genetic Diseases Exhibit & Poster Hall · Board 6066F Alternative splicingTranscriptomeRNA-seqRare variants
Service de Génétique médicale Works in clinical genetics.	Poster Wed Oct 21 2:30 pm Part of Health Services Research and Implementation Science Poster Wednesday Session Refining eligibility criteria for rapid genomic sequencing in acutely ill pediatric patients: A systematic review and multi-cohort phenotype-informed framework Exhibit & Poster Hall · Board 8037W Exome/genome sequencingDiagnosticsPhenotypeClinical testing
3 more presenters — research group not yet identified

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