Centre de recherche du CHUM (CRCHUM) at ASHG 2026

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

Centre de recherche du CHUM (CRCHUM) brings 6 presentations from 3 research groups to ASHG 2026 in Montréal, its home city. Its program centres on rare disease, clinical genetics, and therapeutic research. Tétreault Laboratory brings integrated profiling of RYR1-related disorders, Samarut Laboratory studies THAP12 variants in epilepsy, and Tetreault Lab explores Friedreich ataxia with long-read sequencing.

Organization	ASHG 2026 Attendance
Centre de recherche du CHUM (CRCHUM) Montreal, Quebec	3 Staff Scientists · 2 PhD Students · 1 Postdoc
Tétreault Laboratorymartinetetreaultlab.ca/members Wet + dry lab~10 people Combines WGS/RNA-seq, Oxford Nanopore long-read sequencing, 10X single-cell sequencing and CRISPR-Cas9 models. Studies neuromuscular and neurodegenerative diseases for diagnosis and biomarkers. 22 papers since 2024 › Neuronal lipid droplets play a conserved and sex-biased role in maintaining whole-body energy homeostasis Nature Metabolism, 2026 Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing Brain, 2025 Sustained IFN signaling is associated with delayed development of SARS-CoV-2-specific immunity Nature Communications, 2024 Source: OpenAlex author A5015673980 Funded by Genome Canada › Genome Canada, Genome Canada Health Initiative · active “Tetreault Lab Receives Funding in the Novel Genome Canada Health Initiative!” Source: lab pages 13 platforms and techniques › Runs Whole-genome sequencing (WGS), RNA-seq, Oxford Nanopore long-read sequencing, GridION, P2 Solos, 10X platform, methyl-ATAC-sequencing, O-link technology Techniques CRISPR-Cas9 gene editing, C. elegans disease models, TCR clonotype and gene-expression profiling, Variant calling, Patient-derived myoblast models Source: lab pages Currently hiring › “The lab is currently looking for new graduate students” Source: lab positions page	Poster Wed Oct 21 2:30 pm Part of Statistical Genetics and Genetic Epidemiology Poster Wednesday Session Integrated Transcriptomic and Epigenomic Profiling in RYR1-Related Disorders Exhibit & Poster Hall · Board 8419W Collaborators: Université de Montréal, Université de Sherbrooke BioinformaticsMulti-omicsRNA-seqMethylation Poster Wed Oct 21 2:30 pm Part of Mendelian Phenotypes Poster Wednesday Session A novel homozygous variant in AHCY causes a rare muscular dystrophy: A new case Exhibit & Poster Hall · Board 1076W Collaborators: Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal BioinformaticsMendelian disorderMuscular abnormalitiesRare variants Poster Fri Oct 23 2:30 pm Part of Genetic Therapies and Precision Medicine Poster Friday Session Dissecting the contributions of human Stearoyl-CoA Desaturases to lipid metabolism and immunity. Exhibit & Poster Hall · Board 5011F Brain/nervous systemGene therapyCellular metabolism
Samarut Laboratorysamlab.ca/blank-2 Wet lab~9 people Uses zebrafish and human neurons for functional genomics of rare diseases. Studies pathogenic variants and therapeutic strategies with international clinicians and geneticists. 29 papers since 2024 › Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome Brain, 2024 Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders iScience, 2024 A comprehensive assessment of palmatine as anticonvulsant agent – In vivo and in silico studies Biomedicine & Pharmacotherapy, 2024 Source: OpenAlex author A5009735966 Funded by CIHR, FRQS +3 more › CIHR · active Canada's federal health-research funder, the equivalent of the NIH. “They support our research endeavours; CIHR+loho.png” FRQS · active “They support our research endeavours; logo-frqs-couleur-300x114.png” Natural Sciences and Engineering Research Council · active “They support our research endeavours; Natural_Sciences_and_Engineering_Research_Council_Logo.svg.png” +2 more on the lab page Source: lab pages 6 platforms and techniques › Techniques Functional genomics, Zebrafish models, Human neurons, Caenorhabditis elegans, Functional validation of pathogenic variants, Translational in vivo models Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Part of Molecular Effects of Genetic Variation Poster Wednesday Session Variants in THAP12 contribute to developmental epileptic encephalopathy through impaired mitochondrial function Exhibit & Poster Hall · Board 6079W Collaborators: Université Laval, Broad Institute Brain/nervous systemTranscription factorStem cellNeurodevelopmental Poster Wed Oct 21 2:30 pm Part of Mendelian Phenotypes Poster Wednesday Session Depdc5 regulates the maintenance of GABAergic synapses in zebrafish Exhibit & Poster Hall · Board 1088W EpilepsyFISHNeurodevelopmental
Tetreault Labmartinetetreaultlab.ca/members Wet + dry lab~10 people Combines WGS/RNA-seq, Oxford Nanopore long-read sequencing, 10X single-cell sequencing and CRISPR-Cas9 models. Studies neuromuscular and neurodegenerative diseases for diagnosis and biomarkers. 22 papers since 2024 › Neuronal lipid droplets play a conserved and sex-biased role in maintaining whole-body energy homeostasis Nature Metabolism, 2026 Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing Brain, 2025 Sustained IFN signaling is associated with delayed development of SARS-CoV-2-specific immunity Nature Communications, 2024 Source: OpenAlex author A5015673980 Funded by Genome Canada › Genome Canada, Genome Canada Health Initiative · active “Tetreault Lab Receives Funding in the Novel Genome Canada Health Initiative!” Source: lab pages 13 platforms and techniques › Runs Whole-genome sequencing (WGS), RNA-seq, Oxford Nanopore long-read sequencing, GridION, P2 Solos, 10X platform, methyl-ATAC-sequencing, O-link technology Techniques CRISPR-Cas9 gene editing, C. elegans disease models, TCR clonotype and gene-expression profiling, Variant calling, Patient-derived myoblast models Source: lab pages Currently hiring › “The lab is currently looking for new graduate students” Source: lab positions page	Poster Wed Oct 21 2:30 pm Part of Omics Technologies Poster Wednesday Session Exploring the molecular landscape of Friedreich ataxia with long-read sequencing Exhibit & Poster Hall · Board 8144W Collaborators: Université de Montréal, University of Toronto +1 more AtaxiaEpigeneticsLong-read sequencingMulti-omics

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