Reproductive and prenatal genetics at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
136 organizations at ASHG 2026 present work in reproductive & prenatal: 71 universities and research institutes, 35 hospitals and health systems, 26 companies and 4 government and non-profit bodies. Between them they bring 1,128 presentations to the program. Most represented: McGill University (104 on the program), Broad Institute (53 on the program), Université de Montréal (46 on the program). 61 of them have their own page in this guide. As of Sep 25, 2026.
Format
Top represented
Showing 1–1 of 136 organizations
| Organization | ASHG 2026 Attendance |
|---|---|
McGill University Montreal, Quebec | 71 PhD Students · 5 Staff Scientists · 5 Postdocs · 4 PIs |
Yoshiji Labyoshiji-lab.org Analyzes genomic, proteomic, Olink HT and electronic health-record data from BioPortal and biobanks. Targets drug discovery and precision medicine for diabetes, obesity and cardiovascular disease.
| Session Wed Oct 21 1:30 pm Talk Wed Oct 21 2:07 pm Pathway-specific proteomic aging clocks reveal disease-associated aging programs and protein drivers Complex traitsDiabetesPhenome-wide associationProteomics Talk Wed Oct 21 2:11 pm Population-scale characterization of monogenic diabetes in 374,973 multi-ancestry All of Us participants reveals heterogeneous variant prevalence and variable penetrance DiabetesMendelian disorderRare variantsGenotype-phenotype correlations Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Pathway-specific proteomic aging clocks reveal disease-associated aging programs and protein driversComplex traitsDiabetesPhenome-wide associationProteomics Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Population-scale characterization of monogenic diabetes in 374,973 multi-ancestry All of Us participants reveals heterogeneous variant prevalence and variable penetranceDiabetesGenotype-phenotype correlationsLarge-scale biobanksMendelian disorder Poster Wed Oct 21 2:30 pm Multi-ancestry GWAS of triglyceride-to-HDL ratio in 1.2 million individuals reveals distinct mechanisms of insulin resistance and cardiometabolic risk Genetic epidemiologyGenome-wide association studyMetabolic disorderPolygenic risk score Talk Thu Oct 22 8:30 am Whole-genome sequencing atlas of cardiac and adiposity imaging traits reveals shared and distinct genetic architectures and nominates therapeutic candidates for cardiometabolic disease Cardiovascular systemComplex traitsGenome-wide association studyIdentification of disease genes Poster Thu Oct 22 4:15 pm Plasma proteomic signatures with genetic underpinnings characterize heterogeneity of individuals who develop clinical obesity BioinformaticsComplex diseasesLarge-scale biobanksObesity Poster Fri Oct 23 2:30 pm Whole-genome sequencing association atlas of 55 bone-imaging phenotypes in 67,180 individuals identifies putative effector genes across bone mineral density, bone mineral content, and bone area Endocrine systemGenome-wide association studyLarge-scale biobanksPopulation genetics Poster Fri Oct 23 2:30 pm Bayesian clustering of CAD risk variants captures distinct mechanistic pathways and clinical associations Cardiovascular systemGenetic variationVariant interpretationPolygenic risk score Talk Sat Oct 24 8:45 am Genome-wide polygenic mapping of latent mechanisms underlying type 2 diabetes integrated with CRISPR high-content imaging Complex traitsDiabetesGenetic epidemiologyGenome editing/CRISPR |
Gan-Or Labgba1can.org Generates human cell lines, organoids, animal models, assays and GBA1 genetic, clinical and imaging data. Supports GBA1-targeted treatment development with QPN and C-OPN.
| Session Wed Oct 21 11:00 am Poster Wed Oct 21 2:30 pm Shared Genetic Risk Between Hereditary Spastic Paraplegia and Parkinson’s Disease Rare variantsNeurogeneticsNeurodegenerationCandidate gene Poster Wed Oct 21 2:30 pm Lysosomal trafficking disruption in AP-4 deficiency syndrome (SPG52): insights for GBA1-associated Parkinson's disease PathogenesisCellular metabolismClinical geneticsLysosomal diseases Poster Thu Oct 22 4:15 pm Transdiagnostic Pathway-Specific Polygenic Risk Links Brain Structure Across Neuropsychiatric Disorders Large-scale biobanksPsychiatric geneticsNeurogeneticsNeurodevelopmental Poster Thu Oct 22 4:15 pm Poster Thu Oct 22 4:15 pm Machine learning prioritization of GWAS loci identifies novel rare variant associations in Parkinson's disease Machine learningNeurodegenerationNeurogeneticsStatistical genetics Session Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm GALC variants affect Glucocerebrosidase to Galactosylceramidase activity ratio Precision medicineQuantitative traitNeurogeneticsLysosomal diseases Poster Fri Oct 23 2:30 pm ARSA c.465+1G>A is a risk variant for Parkinson’s disease. NeurodegenerationRare variantsSplicing mechanismsGenetic variation |
Bourque Labcomputationalgenomics.ca/BourqueLab Analyzes ChIP-seq, RNA-seq, exome, whole-genome and single-cell data. Studies mammalian genomes, regulatory DNA, transposable elements and genome rearrangements in evolution and cancer.
| Poster Wed Oct 21 2:30 pm A Pangenome Approach to Investigate the Epigenetic Regulation of Human Transposable Elements in Polymorphic Regions BioinformaticsEpigeneticsComputational toolsPolymorphism Plenary Thu Oct 22 3:08 pm Long-read sequencing reveals telomere inheritance patterns across human trios and fetal-parental quads with sperm BioinformaticsComputational toolsInheritance patternsLong-read sequencing Poster Fri Oct 23 2:30 pm HLA Genotype Associates with Viral Genome Detection in Whole-Genome Sequencing Data from PEGS cohort Gene environment interactionGenetic variationMicrobiome Poster Fri Oct 23 2:30 pm Characterizing epigenome of melanoma histological subtypes to reveal insights into immunotherapy response CancerEpigeneticsImmune systemBioinformatics |
Greenwood Labmcgill.ca/statisticalgenetics Develops statistical methods for DNA methylation, targeted and whole-genome bisulfite sequencing, genotyping and imputation. Applies them to cancer genomics, microbiome and brain imaging data.
| Poster Thu Oct 22 4:15 pm A Statistical Framework for Detecting Cross-Modality Epigenetic Interactions in Paired Multi-Omics Response Data MethodologyStatistical geneticsMulti-omicsInfectious disease Poster Thu Oct 22 4:15 pm A varying-coefficient mixture-of-experts model for dynamic gene regulation in cortical neurogenesis Gene regulationGenomicsNeurodevelopmentalNeurogenetics Poster Fri Oct 23 2:30 pm Copula regression improves the ability to detect modulation of promoter-enhancer dependence Multi-omicsEpigeneticsRegulation of transcriptionStatistical genetics Poster Fri Oct 23 2:30 pm Simultaneous Evaluation of Multiple Potential Immunoregulatory Cell Types Using Spatial Proteomics Data BioinformaticsCancerImmune systemProteomics |
Rouleau Labmcgill.ca/neuro/people/field_mprofile_research_areas/neurodegenerative_disorders Studies Parkinson disease, ALS and dementias using next-generation sequencing, gene arrays and cellular models. Identifies therapeutic targets for rare movement disorders.
| Poster Wed Oct 21 2:30 pm Single-nucleus transcriptomic profiling of the anterior cingulate cortex in bipolar disorder and schizophrenia BioinformaticsCharacterization of disordersNeurogeneticsPsychiatric genetics Poster Thu Oct 22 4:15 pm Does BACE2 Dysfunction Drive Essential Tremor (ET) Pathology? Insights from a CRISPR-Cas9 iPSC Model NeurodegenerationNon-coding RNAStem cellSingle-cell Poster Fri Oct 23 2:30 pm Single-cell expression QTL analyses of the human cerebellum: expanded cohort deepens evidence for oligodendrocyte vulnerability in essential tremor NeurogeneticsNeurodegenerationSingle-cellRNA-seq Poster Fri Oct 23 2:30 pm Polygenic and spatial insights into the genetic uniqueness of essential tremor using common variants BioinformaticsBrain/nervous systemNeurogeneticsPolygenic risk score |
Zhou Lab of Population Genomics and Multi-Omicsszhoulab.github.io Analyzes proteomics, metabolites and large-scale genomics, and generates whole-genome sequencing data. Studies ancestry-specific disease determinants with Nunavik Inuit and COVID-19 cohorts.
| Session Wed Oct 21 11:00 am Poster Wed Oct 21 2:30 pm Genetic evidence from white blood cell traits links immune overactivation to risk of severe infection Genetic epidemiologyGenome-wide association studyImmune systemInfectious disease Poster Wed Oct 21 2:30 pm Multi-ancestry investigation of circulating metabolomics on cognitive decline Alzheimer’s diseaseGenomicsMetabolomicsMulti-omics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Genetic Architecture and Disease Tracking of a Multi-Ancestry Biological Aging ClockBrain/nervous systemGenome-wide association studyLarge-scale biobanks …For the people I connected with at ESHG, if you are coming to ASHG, loooking forward to welcoming you in Montreal!…View post on LinkedInPosted Jul 1, 2026Poster Fri Oct 23 2:30 pm Leveraging the ancestral recombination graph to perform association testing for intracranial aneurysm risk in the Nunavik Inuit population Complex diseasesHaplotypeSusceptibility locusPopulation genetics |
La Piana Lablapianalab.com/general-2 Investigates genetic white matter disorders using advanced imaging, next-generation sequencing analysis and deep clinical phenotyping. Defines imaging biomarkers for hereditary spastic paraparesis and ataxias.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Expanding the Diagnostic Landscape of Tandem Repeat Expansions in Adult-onset LeukodystrophiesBrain/nervous systemEtiologyNeurodegenerationNeurogenetics Poster Wed Oct 21 2:30 pm Whole genome sequencing in unsolved adult genetic leukoencephalopathies increases diagnostic yield and reveals novel causes of Mendelian disease DiagnosticsExome/genome sequencingNeurodegenerationNeurogenetics Poster Wed Oct 21 2:30 pm Severity in Oculopharyngeal Muscular Dystrophy in French Canadians is associated with earlier onset and scapular winging Characterization of syndromesClinical geneticsNeurogenetics |
Li Lab at McGill Computer Sciencecs.mcgill.ca/… Develops AI methods for single-cell multi-omics, scATAC-seq, RNA-seq and EHR data. Applies them to population genetics and healthcare.
| Poster Wed Oct 21 2:30 pm scConcept enables concept-level exploration of single-cell transcriptomic data Artificial intelligenceDeep learningSingle-cellTranscriptome Poster Wed Oct 21 2:30 pm Polygenic risk score heterogeneity is structured across individuals and the genome: MoEPRS and MoEsaicPRS improve prediction across biobank traits Polygenic risk scoreStatistical geneticsMachine learningPopulation structure Poster Thu Oct 22 4:15 pm Integrated genomic and clonal profiling identifies recurrent alterations and patient-specific routes to gastric cancer metastasis CancerSomatic variantsCopy number/structural variationEvolution |
MyeliNeuroGene Labmyelineurogene.com Uses patient iPSCs, mouse models and HiFi-GS sequencing. Studies POLR3-related leukodystrophy and other rare white-matter disorders with patient participants worldwide.
| Poster Wed Oct 21 2:30 pm Estimating the Prevalence of POLR3-Related Disorders by Integrating Genotype-Phenotype Evidence Across Clinically Curated and Expanded Variant Sets Genetic epidemiologyGenotype-phenotype correlationsLarge-scale biobanksNeurogenetics Poster Thu Oct 22 4:15 pm Structure-resolved energetics distinguish recessive loss-of-function from dominant-negative mechanisms in POLR3B-related disease NeurogeneticsVariant interpretationNeurodegenerationMolecular pathophysiology Poster Fri Oct 23 2:30 pm Whole-genome sequencing resolves undiagnosed genetic neuromuscular and motor disorders in a national Southeast Asian cohort DiagnosticsExome/genome sequencingMuscular abnormalitiesNeurogenetics |
Braverman Laboratorybravermanlab.wixsite.com/bravermanlab Runs patient-cell screening, CRISPR/Cas9 editing, mouse models and LC-MSMS analyses. Studies peroxisomal disorders and therapies using natural-history and biobank data.
| Talk Wed Oct 21 2:23 pm From imbalance to equilibrium: antisense oligonucleotide therapy targeting allelic expression of PEX6 in Zellweger spectrum disorder Genotype-phenotype correlationsMolecular pathophysiologyMolecular therapeuticsRare variants Poster Thu Oct 22 4:15 pm A novel neonatal Pex16 deficient mouse model for studying brain pathophysiology and therapeutic strategies in Zellweger Spectrum Disorder Transgenic modelMetabolic disorderBrain/nervous systemAtaxia Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice From imbalance to equilibrium: antisense oligonucleotide therapy targeting allelic expression of PEX6 in Zellweger spectrum disorderMolecular therapeuticsMolecular pathophysiologyRegulation of transcriptionRare variants Session Sat Oct 24 8:15 am |
Advanced Genomic Technologies Laboratoryagtg.ca/team Develops 10X Genomics single-cell, Nanopore long-read and targeted sequencing workflows. Applies them to cancer, viral surveillance and screening with Cancer Research UK and McGill partners.
| Session Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Single cell and spatial transcriptomic profiling of esophageal adenocarcinoma reveals intratumor heterogeneity and defines distinct tumor-stroma-immune interactions Spatial transcriptomicsSingle-cellGastrointestinal systemMulti-omics Poster Fri Oct 23 2:30 pm Multi-omic detection of SVs and their associations with metabolic traits in the French-Canadian population Exome/genome sequencingLong-read sequencingGenotype-phenotype correlationsGenomic structure |
Bailey Labmcgill.ca/thoracic/research-1/dr-swneke-baileys-lab Runs ChIP-seq and RT-qPCR and uses deep whole exome sequencing in gastro-esophageal adenocarcinoma. Develops bioinformatic approaches to interpret non-coding regulatory alterations in metastasis.
| Poster Wed Oct 21 2:30 pm Locating Functional Non-Coding Trait and Disease Driver SNVs with the Euchromatin Binding Array (EUbar) Computational toolsTranscription factorVariant interpretationChromatin Poster Fri Oct 23 2:30 pm Using integrated epigenomic profiling of gastroesophageal adenocarcinomas to reveal novel therapeutic avenues CancerEpigeneticsRegulation of transcriptionPrecision medicine |
Bhérer Labclaudebherer.com Analyzes large-scale genomic datasets from population-based cohorts using Bash, R, Python and high-performance computing clusters. Studies evolutionary variation and disease to support new therapeutics.
| Poster Thu Oct 22 4:15 pm Developing interoperable sociodemographic data standards for evidence-based precision medicine: Insights from the Pan-Canadian Genome Library Precision medicineLarge-scale biobanksPublic healthGenetic epidemiology Poster Fri Oct 23 2:30 pm Optimizing genotype imputation strategies for heterogeneous multi-array biobanks BioinformaticsLarge-scale biobanksMethodologyMicroarrays |
D. Taliun Labgenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Thu Oct 22 4:15 pm Sex-differential pleiotropic effects of HLA alleles on immune, thyroid, and lipid traits in a population-based Canadian cohort Autoimmune disorderComplex traitsGenome-wide association studyImmune system Poster Fri Oct 23 2:30 pm Pisces: a unified PCA-based framework for improved genetic ancestry estimation across heterogeneous genomic datasets Statistical geneticsComputational toolsPopulation geneticsPopulation structure |
McGill CERC in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Thu Oct 22 4:15 pm Baseline Glycemia Drives Genetic Associations with Incident Type 2 Diabetes in the Canadian Longitudinal Study on Aging Large-scale biobanksComputational toolsQuantitative traitGenetic epidemiology Poster Fri Oct 23 2:30 pm Investigating allele count cutoffs for safe sharing of sequencing-based GWAS summary statistics Computational toolsEthical, legal, and social implicationsExome/genome sequencingGenome-wide association study |
Ricangen (Riazalhosseini Lab)ricangen.com Generates and analyzes cancer genomic, epigenomic and transcriptomic profiles using NGS, single-cell and spatial omics. Studies renal-cell carcinoma with the McGill/MUHC RCC biobank.
| Poster Wed Oct 21 2:30 pm Monitoring disease activity in dermatomyositis using blood microsampling Alternative splicingAutoimmune disorderLong-read sequencingRNA-seq Poster Fri Oct 23 2:30 pm Scalable tumor sequencing for accurate diagnosis of renal tumors with clear cell features CancerDiagnosticsGenetic testingTargeted sequencing |
Srour Lab: Genetics of Neurodevelopmental Disordersmcgill.ca/geneneurodisorderslab/team Studies neurodevelopmental disorders using whole-exome and novel sequencing technologies. Identifies genes behind brain malformations and epilepsy to improve care and develop targeted treatments.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Characterization of focal cortical dysplasias using single nucleus RNA sequencingEpilepsyTranscriptomeSomatic variantsSingle-cell Talk Fri Oct 23 11:30 am De novo TUBA1B variants cause a syndromic neurodevelopmental disorder associated with brain, intestinal, renal, and immunological defects Intellectual and developmental disabilityRare variantsGastrointestinal systemBrain/nervous system |
Statistical Genomics and Intelligence Learning Laboratoryqihuangzhang.github.io/Research.html Develops statistical and machine-learning methods for spatial transcriptomics, single-cell RNA-seq and spatial metabolomics data. Uses them for disease characterization, biomarker discovery and precision medicine.
| Poster Thu Oct 22 4:15 pm DenMark: A Bayesian Hierarchical Model for Identifying Cell-Density Correlated Genes from Single-Cell-Resolution Spatial Transcriptomics Spatial transcriptomicsSingle-cellGenomicsStatistical genetics Poster Thu Oct 22 4:15 pm Winnow-KAN: Single-Cell RNA-seq Location Recovery with Small-Gene-Set Spatial Transcriptomics Artificial intelligenceRNA-seqSingle-cellSpatial transcriptomics |
Canadian Centre for Computational Genomicscomputationalgenomics.ca/about-us Provides customized bioinformatics analysis and software for scRNA-seq, Visium spatial transcriptomics, WGS/WES, PacBio Hi-Fi and epigenomic data. Supports PCGL, HostSeq, cancer and microbiome genomics projects.
| Poster Wed Oct 21 2:30 pm Leveraging long-reads for whole genome sequencing and single cell RNA to improve characterization of rare tumours BioinformaticsCancerPrecision medicineSingle-cell |
Canadian Centre for Computational Genomics (C3G)computationalgenomics.ca Provides bioinformatics analysis, software development and HPC services for WGS, RNA-seq, ChIP-Seq and HiC data. Supports the McGill Genome Centre and life-science researchers.
| Poster Thu Oct 22 4:15 pm Composition-aware tandem repeat genotyping: detecting intra-repeat variation and interruption GenomicsComputational toolsTriplet and other repeatsLong-read sequencing |
Cardiovascular Health Across the Lifespan (CHAL) Programrimuhc.ca/cardiovascular-health-across-the-lifespan-program Studies biomarkers, histopathology, genetics and translational genomics in cardiovascular research. Focuses on vascular, cardiac and complex heart health.
| Poster Fri Oct 23 2:30 pm Proteomic Modifiers of Lp(a)-Driven Coronary Artery Disease Risk: Observational and Mendelian Randomization Analyses in the UK Biobank Complex traitsLarge-scale biobanksMendelian randomizationProteomics |
Centre of Genomics and Policygenomicsandpolicy.org/en Studies legal and policy issues in genomic data sharing, RNA-based precision medicine and biobanking. Works with international partners on responsible innovation and health equity.
| Poster Thu Oct 22 4:15 pm Uneven Practice, Unclear Policy: Preimplantation Genetic Testing Across Canadian ART Clinics InfertilityGenetic counselingClinical testingPolicy issues |
Centre of Genomics and Policy (CGP)genomicsandpolicy.org Studies ethical, legal and policy issues around omics, RNA-based precision medicine, gene therapies and artificial intelligence. Works with local, national and international partners.
| Poster Fri Oct 23 2:30 pm Emerging ethical, legal, and social issues in RNA technologies and therapeutics: A scoping review Ethical, legal, and social implicationsRNAPublic healthPolicy issues |
CERC Program in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice A multi-omics tree-based framework for clustering stroke severity and identifying its potential genomic and proteomic driversBioinformaticsCardiovascular systemCharacterization of disordersMulti-omics |
Chang Labnclabca.wordpress.com Studies muscle stem cells using molecular and cell biology plus murine satellite-cell differentiation assays. Models Duchenne muscular dystrophy and rhabdomyosarcoma for regenerative medicine.
| Poster Thu Oct 22 4:15 pm Sexual dimorphism in muscle stem cells Gene regulationMuscular abnormalitiesRNA-seqSingle-cell |
Computational Biology Researchcs.mcgill.ca/… Develops AI methods for scATAC-seq, spatial transcriptomics, single-cell multi-omics and EHR data. Applies them to population genetics, clinical phenotyping and healthcare.
| Poster Wed Oct 21 2:30 pm LLM-Guided Clinical Topic Modeling Enables High-Resolution GWAS of Chronic Musculoskeletal Pain Statistical geneticsMachine learningGenome-wide association studyElectronic health records |
CSG Labcsg.lab.mcgill.ca/index.html Develops computational models for large-scale genomics, RNA-seq and single-cell data. Studies transcription factors, RNA-binding proteins and non-coding RNAs in cancer.
| Talk Fri Oct 23 11:00 am Semantic fragment representations for coordinate-free analysis of genomics data Deep learningGenomicsCell-free DNABioinformatics |
Foulkes Labwilliamfoulkeslab.com/our-team Performs whole exome sequencing and analyzes tumour sequencing data. Studies hereditary cancer predisposition involving DICER1, SMARCA4 and breast cancer families.
| Poster Thu Oct 22 4:15 pm Molecular and pathological characterization of intestinal hamartomatous polyps in DICER1-related tumor predisposition Cancer syndromesClinical geneticsExome/genome sequencingGastrointestinal system |
Genetics Unitshriners-genetics.mcgill.ca/pages%20folder/metabolicteam_e.html Runs Hologic Discovery dual-energy X-ray absorptiometry, Stratec XCT-2000 peripheral quantitative computed tomography and gene sequence analysis. Studies osteogenesis imperfecta and pediatric metabolic bone disorders.
| Poster Thu Oct 22 4:15 pm In vitro studies of ACTC1 variants causing arthrogryposis multiplex congenita Bone/joint abnormalitiesMendelian disorderMolecular pathophysiology |
Gravel Labgravellab.github.io/members Develops mathematical and statistical tools for genetic datasets, genomic cohorts and genealogical records. Studies population variation, human evolution, genetic risk and disease.
| Session Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Exploring selective scanning with Dz statistic: simulation and empirical studies Linkage disequilibriumMethodologyNatural selectionPopulation genetics |
Gupta Labgupta.lab.mcgill.ca/people Studies kidney and urinary-tract disease using mouse models, cell lines, single-cell RNA-sequencing, and UK Biobank data. Works with patients on genetic testing and trials.
| Poster Wed Oct 21 2:30 pm Novel associations of Claudin gene variants with kidney stone disease Gene familiesGenitourinary systemLarge-scale biobanksPhenome-wide association |
hEDS*Omics Research Programmcgill.ca/hypermobile-eds-omics-research Integrates molecular, clinical, lifestyle and environmental data with genomics, proteomics and artificial intelligence. Studies hEDS and HSD to identify subtypes, biomarkers and genotype-phenotype associations.
| Poster Wed Oct 21 2:30 pm Comorbidity Trajectories and Diagnostic Delay in 50,718 People with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder Clinical geneticsDatabasesElectronic health recordsEpidemiology |
Laboratoire Genopopgenopop.ca Développe des méthodes bioinformatiques sur données génomiques, séquençage et généalogies BALSAC. Étudie les maladies neuropsychiatriques et la génétique des populations québécoises.
| Poster Wed Oct 21 2:30 pm Detection and correction of pedigree errors in a deep population genealogy Large-scale biobanksPopulation structurePopulation geneticsMethodology |
Lebrun Lablebrunlaboratory.com Runs genome-wide CRISPR/Cas screens, organoid and xenograft models, and analyzes human patient datasets. Develops metastatic-cancer therapies and precision oncology strategies.
| Session Wed Oct 21 1:30 pm Poster Fri Oct 23 2:30 pm HSPE1 Defines a Dual Mitochondrial Vulnerability Driving Therapeutic Synergy in Pancreatic Cancer Genome editing/CRISPRMolecular therapeuticsGene regulationCancer |
Lefrançois Labladydavis.ca/… Uses exome, transcriptome, molecular biology and computational biology on patient-derived skin-cancer samples. Studies aggressive basal cell carcinoma, tumor microenvironment and actionable targets.
| Poster Thu Oct 22 4:15 pm Exploring the Molecular Landscape of Advanced Basal Cell Carcinoma RNA-seqExome/genome sequencingGenomicsBioinformatics |
McBride Labmcbridelab.org Studies mitochondrial dynamics, mitochondrial-derived vesicles and SUMOylation with biochemical, imaging, proteomic and lipidomic approaches. Applies findings to Parkinson’s disease, immunity and metabolism.
| Poster Fri Oct 23 2:30 pm Characterization of PEX16 and its role in Atypical Zellweger Spectrum Disorder Characterization of disordersRare variantsBrain/nervous systemProtein structure |
McGill CERC Program in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Wed Oct 21 2:30 pm Using cerebrovascular age to map the trajectory of brain and vascular diseases Machine learningMulti-omicsNervous systemNeurogenetics |
McGill Group for Suicide Studiesmgss.ca Studies single-nucleus transcriptomics, DNA methylation and EEG data in postmortem brain and clinical cohorts. Research addresses depression, suicidality and youth suicide prevention.
| Poster Fri Oct 23 2:30 pm Methylomic and Transcriptomic Profiling of Deep-Layer Cortical Pyramidal Neurons Identifies Molecular Changes Associated With Childhood Abuse DepressionNeurogeneticsMethylationTranscriptome |
Rosenblatt Laboratory (The Hess B. and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone)mcgill.ca/rosenblatt-lab Studies vitamin B12 metabolism using patient-derived fibroblasts, cancer cell lines and next-generation sequencing. Develops diagnostic assays and treatments for inherited cobalamin disorders.
| Poster Fri Oct 23 2:30 pm The effect of hydroxocobalamin dose-escalation in cultured fibroblasts from patients with the cblC inborn error of vitamin B12 (cobalamin) metabolism Cellular metabolismMendelian disorderMetabolic disorderPharmacologic therapy |
Slim Labmcgill.ca/rslimlab Uses exome and next-generation sequencing, PCR and Sanger sequencing to identify genes causing reproductive loss. Supports precision reproductive counselling and assisted reproduction.
| Poster Thu Oct 22 4:15 pm Long Read Sequencing Resolves Mechanistic Insights into 11p15.4 Associated Translocations in Mole Like Pregnancy Loss Reproductive geneticsChromosomal abnormalitiesExome/genome sequencingGenomic structure |
Investigator + Industry Trials Management Team (I2T)cru.mcgill.ca/i2t Manages neurological clinical trials through design, regulatory submissions, study start-up, monitoring and electronic data capture. Supports academic investigators and industry partners at The Neuro.
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Jerome-Majewska Labjerome-majewskalab.wixsite.com/jerome-majewska-lab Studies placental, craniofacial and liver morphogenesis using CRISPR/Cas9-generated mouse models. Investigates congenital malformations and human hereditary disease.
| Session Fri Oct 23 11:00 am |
Lasko Labmcgill.ca/lasko-lab Studies RNA-binding proteins and translational control in Drosophila melanogaster. Uses Drosophila to investigate germ-cell specification, embryonic patterning and oogenesis.
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Richards Labmcgill.ca/genepi/people-profiles Works in population genetics and computational genetics.
| Talk Wed Oct 21 2:11 pm Genetic architecture of pathway-specific metabolomic aging clocks in the Canadian Longitudinal Study on Aging MetabolomicsMachine learningGenetic epidemiologyGenome-wide association study Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice The landscape and phenotypic impact of mobile element variations in the UK BiobankCopy number/structural variationEvolutionary geneticsPhenome-wide association Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Genetic architecture of pathway-specific metabolomic aging clocks in the Canadian Longitudinal Study on AgingComplex traitsGenetic epidemiologyGenome-wide association studyMachine learning Poster Thu Oct 22 4:15 pm Sex differences in disease prevalence persist without strong evidence of genetically dimorphic effects Genetic epidemiologyHeritabilityComplex diseasesBioinformatics Poster Thu Oct 22 4:15 pm An Atlas of the Genetic Determinants of Toxin Levels in Humans Large-scale biobanksGenome-wide association studyGene environment interactionPublic health |
Lu Laboratoryqlu-lab.org Works in population genetics and clinical genetics.
| Poster Thu Oct 22 4:15 pm Impact of proxy cases on identification of target genes for Alzheimer's disease using Mendelian randomization Alzheimer’s diseaseBioinformaticsMendelian randomization |
Martin Lab Works in rare disease and computational genetics. | Poster Wed Oct 21 2:30 pm Exploring Therapeutic Opportunities for the Rare Mitochondrial Disorder Leigh Syndrome, French-Canadian Type Using CRISPR Technologies Genome editing/CRISPRGene therapyPrecision medicineTranslational studies and preclinical trials Poster Fri Oct 23 2:30 pm CRISPR-BEasy: making CRISPR base editing screens accessible from library design to 3D structural insights Genome editing/CRISPRBioinformaticsLaboratory genetics and genomics |
Grant Lab Works in population genetics. | Poster Fri Oct 23 2:30 pm Genetic insights into multisite chronic pain: defining the MCP-binary phenotype & advancing GWAS meta-analysis across biobanks Genome-wide association studyLarge-scale biobanksStatistical geneticsPhenotype |
Kitzler Lab Research group. | Poster Wed Oct 21 2:30 pm Rare heterozygous COL4A1 variants as a novel cause of congenital anomalies of the kidney and urinary tract (CAKUT) Genetic variationMolecular pathophysiologyGenitourinary systemModel organisms |
Medical Genetics Division, MUHC Works in rare disease. | Poster Thu Oct 22 4:15 pm Expanding the allelic and phenotypic spectrum of CYLD cutaneous syndrome: intragenic copy-number duplication and metastatic spiradenocarcinoma Characterization of disordersCharacterization of syndromesClinical geneticsCopy number/structural variation |
Urologic Oncology Research Group Works in cancer genetics and clinical genetics. | Poster Thu Oct 22 4:15 pm Primary Tumour and Longitudinal ctDNA Whole-Genome Sequencing Identifies Genomic Signatures of Active Disease in Patients with Severe Prostate Cancer CancerGenomicsBioinformaticsCell-free DNA |
| 10 more presenters — research group not yet identified | |
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