Sickkids Research Institute at ASHG 2026

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

Sickkids Research Institute brings 7 presentations from 5 research groups to ASHG 2026 in Montréal. Its program centres on rare disease diagnosis, therapeutic genome editing and clinical genomic testing. The Costain Lab studies variants for antisense therapies, the Cohn Lab tests base editing in a Duchenne muscular dystrophy mouse model, and the Hayeems Lab compares first-tier genome sequencing with later testing.

Organization	ASHG 2026 Attendance
Sickkids Research Institute Toronto, Ontario	3 PhD Students · 2 Staff Scientists · 1 PI
Costain Lablab.research.sickkids.ca/costain Dry lab~13 people Uses genome sequencing to diagnose children with undiagnosed genetic disease. Interprets rare variation for epilepsy, medical complexity and precision therapy development. 65 papers since 2024 › Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy Nature Genetics, 2024 Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders npj Genomic Medicine, 2024 A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Cell, 2024 Source: OpenAlex author A5050099013 Funded by Canadian Institutes of Health Research, Research Training Centre › Canadian Institutes of Health Research · active “Canadian Institutes of Health Research” Research Training Centre, Restracomp · active “Research Training Centre \| Restracomp” Source: lab pages 5 platforms and techniques › Analyzes Genome sequencing Techniques Rare genetic-variation classification and interpretation, Sequencing variant-data analysis, Pharmacogenetic testing, Antisense oligonucleotide eligibility assessment Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Part of Genetic Therapies and Precision Medicine Poster Wednesday Session Population-scale prioritization of common heterozygous SNPs for allele-specific antisense oligonucleotide therapy design Exhibit & Poster Hall · Board 5020W Collaborators: University of Toronto Molecular therapeuticsPrecision medicinePopulation geneticsSNP analysis/discovery Poster Thu Oct 22 4:15 pm Part of Molecular Effects of Genetic Variation Poster Thursday Session Systematic identification of rare splice-disrupting deep intronic variants for targeted antisense oligonucleotide design Exhibit & Poster Hall · Board 6073T Collaborators: University of Toronto Splicing mechanismsVariant interpretationRare variantsRNA-seq Poster Thu Oct 22 4:15 pm Part of Molecular Effects of Genetic Variation Poster Thursday Session Investigating discordant in silico variant effect predictions using data from Multiplex Assays of Variant Effects (MAVEs) Exhibit & Poster Hall · Board 6054T Collaborators: University of Toronto Computational toolsVariant interpretation
Cohn Lablab.research.sickkids.ca/cohn Wet lab~12 people Develops CRISPR/Cas and CRISPR prime editing therapies in patient-derived cells and mouse models. Targets rare inherited diseases, including muscular dystrophies and pediatric leukodystrophy. Funded by CIHR, CIHR +7 more › Ontario Graduate Scholarship, OGS · 2023 “Ryan for receiving funding for his work through the OGS program!” CIHR, Project grant: Transcriptional control of disease modifiers for the treatment of Duchenne Muscular Dystrophy · 2019 Canada's federal health-research funder, the equivalent of the NIH. “We received funding for our CIHR project grant: Transcriptional control of disease modifiers for the treatment of Duchenne Muscular Dystrophy.” CIHR, Canada Graduate Scholarships-Master’s · 2019 Canada's federal health-research funder, the equivalent of the NIH. “Matthew for receiving funding for his work through the CGS-M program.” +6 more on the lab page Source: lab pages 11 platforms and techniques › Runs CRISPR/Cas tools, CRISPR prime editing, Filipin staining Techniques CRISPR/Cas, CRISPR prime editing, Genome editing, Gene modulation, In vitro and in vivo models, Patient-derived cells, Mouse models, Human neuronal cells Source: lab pages Currently hiring › “Currently accepting post-doctoral fellows (with expertise in mouse genetics and epigenetics)” Source: lab positions page	Poster Fri Oct 23 2:30 pm Part of Genetic Therapies and Precision Medicine Poster Friday Session Single AAV vector base editing rescues a nonsense variant in a humanized mouse model of Duchenne muscular dystrophy Exhibit & Poster Hall · Board 5020F Genome editing/CRISPRGene therapyPrecision medicineTransgenic model Session Sat Oct 24 8:15 am Assessing Genetic Variants for RNA and Gene Editing Therapeutic Approaches Room 518/Level 5
Hayeems Lablab.research.sickkids.ca/hayeems Dry lab~21 people Evaluates genome-wide sequencing, exome sequencing and genetic testing with C-GUIDE and P-GUIDE. Studies maternal-child genomic care with Genome-wide Sequencing Ontario and CHILD-BRIGHT. 55 papers since 2024 › Data-driven consideration of genetic disorders for global genomic newborn screening programs Genetics in Medicine, 2025 Mainstreaming of clinical genetic testing: A conceptual framework Genetics in Medicine, 2025 Family‐centred care interventions for children with chronic conditions: A scoping review Health Expectations, 2024 Source: OpenAlex author A5044819903 12 platforms and techniques › Analyzes Genome-wide sequencing (GWS), Exome sequencing, Whole genome sequencing (WGS), Non-Invasive Prenatal Testing (NIPT), Auto-antibody screening assays, The Genetics Navigator Techniques Applied health services and policy research, Outcome-measure development and validation, Measurement science and co-design with patient partners, Semi-structured interviews, Medical record review and administrative-data linkage, Mixed-methods hybrid implementation-effectiveness design Source: lab pages Currently hiring › “We are currently accepting students at the MSc, PhD, and Post-doctoral levels.” Source: lab positions page No funding stated	Poster Wed Oct 21 2:30 pm Part of Health Services Research and Implementation Science Poster Wednesday Session Evaluating the diagnostic impact of first-tier genome sequencing: a real-world comparison with second-tier exome and genome sequencing for suspected rare genetic disease Exhibit & Poster Hall · Board 8025W Collaborators: Children's Hospital of Eastern Ontario Clinical testingExome/genome sequencingGenomics
Wilson Labwilsonlab.org/people.html Wet + dry lab~14 people Uses comparative genomics, RNA sequencing, single-cell RNA sequencing and ChIP-seq to study gene regulation and human disease. Focuses on childhood disease, leukemia and cardiovascular inflammation. 12 platforms and techniques › Analyzes RNA sequencing, single-cell RNA sequencing, scRNA-seq, ChIP-seq, genome sequencing, blood transcriptome profiling Techniques comparative genomics, computational analyses, functional studies, single-cell analysis, mouse models, human embryonic stem cells Source: lab pages Currently hiring › “PhD scientists interested in joining the lab are always encouraged to contact me.” Source: lab positions page No funding stated	Poster Thu Oct 22 4:15 pm Part of Omics Technologies Poster Thursday Session Long-read RNA sequencing enhances diagnostic resolution for Mendelian disorders Exhibit & Poster Hall · Board 8161T Collaborators: University of Toronto, University Health Network RNA-seqLong-read sequencingMendelian disorderDiagnostics
Centre for Applied Genomics Works in computational genetics.	Poster Fri Oct 23 2:30 pm Part of Artificial Intelligence and Machine Learning Poster Friday Session EAGLE-AI: A Hierarchical Multi-Agent System for Automated Curation of Autism Gene Link Evidence Exhibit & Poster Hall · Board 8064F Collaborators: University of Waterloo AutismDatabasesGenetic variationVariant interpretation

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