Children's Hospital of Eastern Ontario at ASHG 2026

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

Children's Hospital of Eastern Ontario brings 8 presentations from 5 research groups to ASHG 2026 in Montréal. Its program centres on rare-disease diagnosis, genomic data sharing and therapeutic research. Care4Rare Team brings multi-omic diagnosis across Canada and mosaic variant findings, Care4Rare Canada brings infrastructure for Canadian precision-health research, and Lochmüller Lab brings global prevalence estimates for congenital myasthenic syndromes.

Organization	ASHG 2026 Attendance
Children's Hospital of Eastern Ontario Ottawa, Ontario	2 PIs · 2 Postdocs · 1 PhD Student
Care4Rare Teamcare4rare.ca ~21 people Generates and shares short-read genome, long-read genome, transcriptome and methylome datasets. Develops Genomics4RD for pan-Canadian rare-disease data sharing and diagnosis. Funded by Genome Canada, Genome Canada +1 more › Genome Canada, Canadian Precision Health Initiative · 2025 to present “As part of Genome Canada’s Canadian Precision Health Initiative, this four-year pan-Canadian project” Genome Canada, FORGE · 2011 to 2013 “It was jointly funded by Genome Canada and the Canadian Institutes of Health Research.” Canadian Institutes of Health Research, FORGE · 2011 to 2013 “It was jointly funded by Genome Canada and the Canadian Institutes of Health Research.” Source: lab pages 13 platforms and techniques › Works with short-read genome, long-read genome, transcriptome, methylome data, whole-exome sequencing, PacBio HiFi sequencing, Genomics4RD Techniques multi-omic approaches, bioinformatics, Next Generation Sequencing, genome-wide sequencing, exome sequencing, rare-disease gene discovery Source: lab pages No openings posted	Plenary Tue Oct 20 5:38 pm Part of Plenary Abstract Session I Solving the unsolvable: A systematic multi-omic approach for rare disease diagnosis across Canada Room 517/Level 5 Collaborators: University of Ottawa Multi-omicsExome/genome sequencingLong-read sequencingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm Part of Late-Breaking Poster Thursday Session Deep sequencing reveals mosaic variants as a major cause of genetically unresolved tuberous sclerosis and neurofibromatosis type 1 Exhibit & Poster Hall · Board 4004T Collaborators: University Health Network MosaicismRNA-seqClinical geneticsMulti-omics Poster Fri Oct 23 2:30 pm Part of Health Services Research and Implementation Science Poster Friday Session Rethinking first-tier genetic testing: From chromosomal microarray to genome-wide sequencing Exhibit & Poster Hall · Board 8039F DiagnosticsMicroarraysExome/genome sequencingEthical, legal, and social implications
Care4Rare Canadacare4rare.ca/our-team Wet + dry lab~21 people Generates and shares short-read genome, long-read genome, transcriptome and methylome data for rare-disease research. Builds bioinformatics infrastructure for rapid diagnosis through global data sharing. Funded by Genome Canada, Genome Canada +1 more › Genome Canada, Canadian Precision Health Initiative · 2025 to present “As part of Genome Canada’s Canadian Precision Health Initiative, this four-year pan-Canadian project” Genome Canada, FORGE · 2011 to 2013 “It was jointly funded by Genome Canada and the Canadian Institutes of Health Research” Canadian Institutes of Health Research, FORGE · 2011 to 2013 “It was jointly funded by Genome Canada and the Canadian Institutes of Health Research” Source: lab pages 10 platforms and techniques › Works with short-read genome, long-read genome, transcriptome, methylome, exome sequencing, Genomics4RD Techniques Next Generation Sequencing, genome-wide sequencing, multi-omic approaches, HiFi sequencing Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Part of Health Services Research and Implementation Science Poster Wednesday Session Cross-Project Harmonization and Infrastructure Opportunities to Accelerate Rare Disease Research within the Canadian Precision Health Initiative Exhibit & Poster Hall · Board 8023W Collaborators: University of Ottawa DatabasesMulti-omics
Lochmüller Lablochmullerlab.org Wet + dry lab~38 people Studies rare neuromuscular disorders using whole-exome sequencing, patient-derived material and mouse/zebrafish models. Work spans diagnosis, biomarkers, pathomechanisms and therapy development. 96 papers since 2024 › Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Nature Medicine, 2025 Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy Archives of Pediatrics and Adolescent Medicine, 2024 Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study The Lancet Regional Health - Europe, 2024 Source: OpenAlex author A5062908694 Funded by Canada Research Chairs, CIHR +6 more › Canada Research Chairs, Canada Research Chair in Neuromuscular Genomics and Health · active A federal award that pays part of the chair holder's salary plus research support, five years for Tier 2 and seven for Tier 1. “Hanns holds the Canada Research Chair in Neuromuscular Genomics and Health and our lab’s work is supported by funding from the Canada Research Chairs program.” CIHR, CIHR Foundation Grant on Precision Health for Neuromuscular Diseases, FDN-167281 · active Canada's federal health-research funder, the equivalent of the NIH. “We are supported by a CIHR Foundation Grant on Precision Health for Neuromuscular Diseases under grant no. FDN-167281” CIHR, CIHR Network Grant for NMD4C · active Canada's federal health-research funder, the equivalent of the NIH. “and by a CIHR Network Grant (jointly funded by Muscular Dystrophy Canada) for NMD4C” +5 more on the lab page Source: lab pages 11 platforms and techniques › Works with whole exome sequencing (WES), multispectral optoacoustic tomography (MSOT), AAV vectors Techniques deep phenotyping, genomics, transcriptomics, proteomics, immunofluorescence studies, mouse models, zebrafish models, iPSCs Source: lab pages Currently hiring › “We are always interested in hearing from potential MSc and PhD candidates, postdoctoral fellows and research associates” Source: lab positions page	Poster Fri Oct 23 2:30 pm Part of Statistical Genetics and Genetic Epidemiology Poster Friday Session Estimating the global prevalence of recessive forms of acetylcholine receptor congenital myasthenic syndromes using population allele frequencies Exhibit & Poster Hall · Board 8389F Collaborators: University of Ottawa, uOttawa Brain and Mind Research Institute Genetic epidemiologyMathematical modelingMendelian disorderMuscular abnormalities
Polavarapu research Grouppolavarapulab.org Dry lab Reanalyzes exome, genome and transcriptomic data with the RD-Connect Genome Phenome Analysis Platform. Aims to diagnose rare neuromuscular and neurodevelopmental disorders. Funded by CIHR › CIHR, Postdoctoral Fellowship Canada's federal health-research funder, the equivalent of the NIH. “As a postdoctoral fellow at CHEO RI, Dr. Polavarapu held a CIHR Postdoctoral Fellowship” Source: lab pages 9 platforms and techniques › Analyzes Exome sequencing, Genome sequencing, Transcriptomics, RD-Connect Genome Phenome Analysis Platform Techniques Deep clinical phenotyping, Functional validation, Variant interpretation workflows, Proteomic analysis, Genomic reanalysis Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Part of Mendelian Phenotypes Poster Friday Session Reanalysis of unsolved consanguineous families with rare complex neurological phenotypes identifies novel phenotype associations and dual molecular diagnoses Exhibit & Poster Hall · Board 1122F Collaborators: University of Ottawa, Ottawa Hospital +1 more Genotype-phenotype correlationsMendelian disorderNeurodevelopmentalNeurogenetics
Cardiomyopathy Variant Curation Expert Panelclinicalgenome.org/affiliation/50002 Works in clinical genetics.	Poster Thu Oct 22 4:15 pm Part of Laboratory Genetics and Genomics Poster Thursday Session Reclassification of hypertrophic cardiomyopathy variants using adapted ACMG/AMP variant interpretation guidelines Exhibit & Poster Hall · Board 2050T Collaborators: University Health Network Cardiovascular systemDiagnosticsGenetic testingVariant interpretation
1 more presenter — research group not yet identified

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