ASHG 2026 · Hospital & health system

Boston Children's Hospital at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Boston, Massachusetts

Boston Children's Hospital at ASHG 2026 in Montréal: 24 presentations (21 posters, 3 platform talks); 16 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Boston Children's Hospital Boston, Massachusetts	7 PIs · 4 Postdocs · 2 Clinicians · 1 Undergrad
Hirschhorn Labjoelhirschhornlab.org Wet + dry lab~12 people Applies computational and laboratory methods to GWAS, sequence, metabolomic and biobank data. Studies human obesity, skeletal growth and endocrine disorders with GIANT and HEDGE. 30 papers since 2024 › Polygenic prediction of body mass index and obesity through the life course and across ancestries Nature Medicine, 2025 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Functional genomics of human skeletal development and the patterning of height heritability Cell, 2024 Source: OpenAlex author A5001552586 14 platforms and techniques › Works with GWAS of BMI and height, Sequence data, 1000 whole genome sequences, Metabolomic data, Multiple metabolomic platforms, Mass spectrometry-based metabolite data, Genome-wide CRISPR screening Techniques Genome-wide association studies, PheWAS, Rare-variant burden analyses, Causal inference, Gene-set enrichment and prioritization, Chondrocyte differentiation models, Neuronal or adipocyte models Source: lab pages No funding stated · No openings posted	Poster Thu Oct 22 4:15 pm Integrative variant-to-gene mapping identifies candidate genes and mechanisms for human height Complex Traits and Polygenic Disorders Collaborators: Broad Institute, Institute for Molecular Bioscience +7 more Genome-wide association studyComplex traitsComputational toolsEndocrine system Poster Thu Oct 22 4:15 pm Benchmarking Computationally Prioritized Genes for Anthropometric Traits Against Orthogonal Aggregate Association Test Statistics on Rare Variants from the UK Biobank Complex Traits and Polygenic Disorders Collaborators: Broad Institute, University of London +6 more Exome/genome sequencingComplex traitsLarge-scale biobanksRare variants Poster Thu Oct 22 4:15 pm Genome-wide association study of hypermobile Ehlers-Danlos syndrome identifies candidate loci and a sex-specific signal at IL13RA2 Complex Traits and Polygenic Disorders Collaborators: Harvard University, Charles University +5 more Genome-wide association studyGenotype-phenotype correlationsStatistical geneticsCandidate gene
Huang Laboratoryaugusthuanglab.org/home Dry lab~8 people Develops computational tools for bulk whole-genome, whole-exome, RNA-seq and single-cell sequencing data. Studies somatic mutations in development, aging and human disease. 35 papers since 2024 › Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs Proceedings of the National Academy of Sciences, 2025 Mapping recurrent mosaic copy number variation in human neurons Nature Communications, 2024 Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer’s disease microglia bioRxiv (Cold Spring Harbor Laboratory), 2024 Source: OpenAlex author A5043810530 Funded by NIH/NIA, NIH/NHLBI +2 more › NIH/NIA · active “His research projects are funded by NIH/NIA, NIH/NHLBI, Alzheimer's Association, and Boston Children’s Hospital” NIH/NHLBI · active “His research projects are funded by NIH/NIA, NIH/NHLBI, Alzheimer's Association, and Boston Children’s Hospital” Alzheimer's Association · active “His research projects are funded by NIH/NIA, NIH/NHLBI, Alzheimer's Association, and Boston Children’s Hospital” +1 more on the lab page Source: lab pages 10 platforms and techniques › Analyzes Whole-genome sequencing, Whole-exome sequencing, Bulk RNA-seq, Tn5 transposase-based duplex sequencing, PRDD-seq, Single-cell high-throughput sequencing Techniques MosaicHunter somatic SNV detection, Mutational signature analysis, Developmental lineage tracing, Transcriptome and epigenome analysis Source: lab pages Currently hiring › “The Huang Lab is seeking talented postdoctoral researchers, graduate and undergraduate students, and visiting scholars” Source: lab positions page	Poster Wed Oct 21 2:30 pm Single-Cell Multiomic Dissection of Cell-Type-Specific Somatic Mutagenesis in the Aging Human Brain Omics Technologies Collaborators: Brigham and Women's Hospital Single-cellSomatic variantsSequencing technologyNeurogenetics Moderator Fri Oct 23 11:00 am New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales Poster Fri Oct 23 2:30 pm Single-Cell Lineage Tracing Links Clonal Hematopoiesis to Inflammatory Microglia in Alzheimer's Disease Epigenomics Collaborators: Broad Institute, Howard Hughes Medical Institute Alzheimer’s diseaseSingle-cellNeurodegenerationHematopoietic system
Translational Hearing Genomics Labhearing-genomics.org Wet + dry lab~10 people Studies genetic hearing loss with exome, genome and long-read sequencing, plus mouse models. Works on newborn genetic screening, cochlear-implant outcomes and gene-therapy clinical trials. 1 paper since 2024 › Treatment of increased intracranial pressure secondary to otitic hydrocephalus Frontiers in Pediatrics, 2026 Source: OpenAlex author A5129852477 7 platforms and techniques › Runs Exome sequencing, Genome sequencing, Long-read sequencing Techniques Mouse models of hearing loss, Single-cell gene expression, Newborn genetic hearing screening, Gene-therapy clinical trials Source: lab pages No funding stated · No openings posted	Talk Wed Oct 21 11:30 am Rapid panel sequencing and automated pipeline for genetic hearing loss in newborns - The fasT genOmic heAring losS Testing (TOAST) study The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges Sensory disordersNewborn screeningDiagnosticsTargeted sequencing Poster Wed Oct 21 2:30 pm Targeted Long-Read RNA Sequencing Analysis of Splice-Altering Variants in Usher Syndrome Omics Technologies Long-read sequencingTargeted sequencingRNA-seqVariant interpretation
Wojcik Labresearch.childrenshospital.org/research-units/wojcik-lab-research/meet-our-team ~8 people Uses genomic sequencing and long-read transcriptome analysis to identify rare-disease diagnoses. Works through the Neonatal Genomics Program, Manton Center, and Fetal Precision Medicine Program. 64 papers since 2024 › Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Nature, 2024 Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability The American Journal of Human Genetics, 2024 Source: OpenAlex author A5000401192 11 platforms and techniques › Analyzes Exome sequencing, Genome sequencing, Short-read sequencing, Long-read sequencing, Long-read transcriptome analysis, Untargeted metabolomics Techniques Genomic reanalysis, Structural variant discovery, Copy-number variant detection and classification, Transcriptome analysis with IsoRanker, Genomic medicine implementation Source: lab pages No funding stated · No openings posted	Poster Thu Oct 22 4:15 pm Putting two exome/genome sequencing reanalysis programs to work in an orphan disease cohort Artificial Intelligence and Machine Learning Collaborators: Broad Institute DiagnosticsExome/genome sequencingRare variantsVariant interpretation Poster Thu Oct 22 4:15 pm Impact of Universal Access to Rapid Genome Sequencing in a Level IV NICU Health Services Research and Implementation Science Collaborators: Harvard Pilgrim Health Care Clinical testingEthical, legal, and social implicationsExome/genome sequencingPrecision medicine
Yu Labtheyulab.org Wet + dry lab~32 people Develops translational genomic medicine using whole-exome, rapid-turnaround exome sequencing, human cell culture and iPSC-derived neurons. Targets neurodevelopmental, neurogenetic and rare pediatric diseases. 45 papers since 2024 › Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments The American Journal of Human Genetics, 2025 The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap Nature Reviews Drug Discovery, 2024 A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases Nature Communications, 2024 Source: OpenAlex author A5067147799 Funded by Advanced Research Projects Agency for Health (ARPA-H), Advanced Research Projects Agency for Health (ARPA-H) +1 more › Advanced Research Projects Agency for Health (ARPA-H), THRIVE · active “has been selected to receive funding from the Advanced Research Projects Agency for Health (ARPA-H) under its THRIVE program.” Advanced Research Projects Agency for Health (ARPA-H), Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform · active “The award will fund the Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform.” A-T Children’s Project, Global A-T Family Data Platform · active “our partners at the A-T Children’s Project who led the initiative to create and fund the Global A-T Family Data Platform” Source: lab pages 13 platforms and techniques › Works with whole exome sequencing, whole genome sequencing, rapid-turnaround exome sequencing, unified hospital genomic-data portal, Global A-T Family Data Platform, Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform Techniques antisense oligonucleotide therapies, splice-switching oligonucleotides, computational predictions, experimental validation, human cell culture, iPSC-derived neurons, mouse models Source: lab pages Currently hiring › “We’re currently recruiting for a POST DOCTORAL FELLow” Source: lab positions page	Poster Thu Oct 22 4:15 pm An integrative multi-omics and deep learning framework for prioritizing noncoding variants in congenital heart disease Artificial Intelligence and Machine Learning Cardiovascular systemDevelopmentVariant interpretationGene regulation Talk Fri Oct 23 1:30 pm Providing ethical guidance for the development of individualized genomic medicine as rare as n-of-1: Results from the GENIE study Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies Collaborators: University of North Carolina at Chapel Hill, Johns Hopkins University +1 more Ethical, legal, and social implicationsGenomicsMolecular therapeuticsPrecision medicine
Chung Labsparkforautism.org Collects whole-genome sequencing, saliva-DNA, clinical, behavioral and survey data through a national autism study. Supports autism genetics and phenotypic research with 31 clinical sites. Funded by Simons Foundation › Simons Foundation, Simons Foundation Autism Research Initiative · active “SPARK, the world’s largest autism research study, is supported by the Simons Foundation, through the Simons Foundation Autism Research Initiative.” Source: lab pages 3 platforms and techniques › Runs whole-genome sequencing Techniques saliva DNA collection, standardized clinical and behavioral measures Source: lab pages No openings posted	Moderator Thu Oct 22 1:30 pm Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders Poster Thu Oct 22 4:15 pm Results of assessment of infants with Long QT syndrome (LQTS) identified by the GUARDIAN (Genomic Uniform-screening Against Rare Disease in All Newborns) genomic newborn screening study Mendelian Phenotypes Collaborators: Columbia University Irving Medical Center ChannelopathiesNewborn screeningCharacterization of syndromesEthical, legal, and social implications inNamed in a LinkedIn post about ASHG 2026 🏅ASHG Scientific Achievement Award ×2 Attendee inNamed in a LinkedIn post about ASHG 2026
Cornelia de Lange Syndrome and Related Disorders Clinicresearch.childrenshospital.org/research-units/childrens-rare-disease-collaborative/crdc-rare-diseases/cornelia-de-lange-syndrome ~1 people Builds sample, genomic and clinical data repositories for Cornelia de Lange syndrome and related disorders. Identifies causal mutations and new disorders. Funded by Boston Children’s Rare Disease Collaborative (CRDC) › Boston Children’s Rare Disease Collaborative (CRDC) · 2018 “one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC).” Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Expanded Natural History of STAG1 Cohesinopathy Mendelian Phenotypes Clinical geneticsIntellectual and developmental disabilityMendelian disorderNatural history
Division of Genetics & Genomicsbchgenetics.org Wet + dry lab~91 people Provides Illumina, Affymetrix, Fluidigm Biomark and Sequenom MassARRAY services and studies whole-genome expression and single-cell genomics. It targets rare-disease diagnosis, therapies and developmental genetics. 3 papers since 2024 › Development of a Working Definition of Severe Von Willebrand Disease Blood, 2024 New Insights into the Mechanism of Action of L-681,217, a Medicinally Promising Polyketide Inhibitor of Bacterial Protein Translation Biochemistry, 2024 Predictability of European winter 2022/23 Atmospheric Science Letters, 2024 Source: OpenAlex author A5060579310 Funded by Paul Allen Frontiers Program › Paul Allen Frontiers Program · active “the Division of Genetics and Genomics was awarded a sizable grant from the Paul Allen Frontiers Program to support a center” Source: lab pages 10 platforms and techniques › Runs Illumina, Affymetrix, Fluidigm Biomark System, Sequenom MassARRAY, Whole-genome expression and genotyping microarray technology Techniques Whole-exome and whole-genome sequencing, Single-cell genomics, Brain organoids, Gene therapy, C. elegans, zebrafish, mice, macaques and human cells in culture Source: lab pages Currently hiring › “Research Fellow – Genomics” Source: lab positions page	Poster Thu Oct 22 4:15 pm The unusual constellation of pyriform aperture stenosis, microretrognathia, and scoliosis may suggest Tolchin-Le Caignec Syndrome due to haploinsufficiency of SOX6 Mendelian Phenotypes Collaborators: University of Hawaiʻi at Mānoa, Hunter Genetics Characterization of syndromesMendelian disorderNeurodevelopmentalPhenotype
Ebrahimi-Fakhari Laboratorydef-lab.org Wet lab~16 people Studies rare neurogenetic disorders using high-throughput microscopy, iPSC-derived neurons, zebrafish and mice. Builds therapies and trial-readiness infrastructure with Boston Children’s Hospital. 2 papers since 2024 › Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation Annals of Clinical and Translational Neurology, 2026 PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance medRxiv, 2026 Source: OpenAlex author A5132644424 Funded by NINDS, DFG +3 more › NINDS · active “NINDS” DFG · active “DFG” Movement Disorders Society · active “Movement Disorders Society” +2 more on the lab page Source: lab pages 10 platforms and techniques › Runs High-throughput microscopy, Targeted proteomics, High-throughput small-molecule screening Techniques iPSC-derived neurons, Transgenic zebrafish, Transgenic mice, Targeted proteomics, Functional genomics, Disease modeling, Gene replacement therapy Source: lab pages Currently hiring › “We periodically have positions open for students, research assistants, and research fellows.” Source: lab positions page	Poster Fri Oct 23 2:30 pm Advancing Clinical Trial Readiness Across Hereditary Spastic Paraplegias: A Structured Framework Genetic Therapies and Precision Medicine Gene therapyClinical testingNeurogeneticsBrain/nervous system
Lee Laboratoryresearch.childrenshospital.org/research-units/dongwon-lee-laboratory-research Dry lab~6 people Uses single-cell Multiome data, disease-cohort genetics and machine-learning models to study kidney gene regulation. Builds cell-type-specific regulatory networks and predicts disease-associated variants. 83 papers since 2024 › GPT-who: An Information Density-based Machine-Generated Text Detector Preprint or unlisted venue, 2024 Disinformation 2.0 in the Age of AI: A Cybersecurity Perspective Communications of the ACM, 2024 The Longtail Impact of Generative AI on Disinformation: Harmonizing Dichotomous Perspectives IEEE Intelligent Systems, 2024 Source: OpenAlex author A5100405086 13 platforms and techniques › Analyzes single-cell Multiome, DNase-seq, ATAC-seq, ChIP-seq, MPRA, whole-genome sequencing Techniques machine-learning models, gene regulatory network inference, multi-cohort GWAS, eQTL analysis, gkmQC, deltaSVM, deepSEA and Basenji models, allele-specific expression analysis Source: lab pages Currently hiring › “Full-time postdoctoral positions are available in [name]’s laboratory.” Source: lab positions page No funding stated	Poster Wed Oct 21 2:30 pm Kidzoi Enables Cell-Type-Specific Regulatory Variant Effect Prediction in the Kidney Artificial Intelligence and Machine Learning Collaborators: Broad Institute Artificial intelligenceGenome-wide association studySingle-cellVariant interpretation
Manton Center for Orphan Disease Researchresearch.childrenshospital.org/research-units/manton-center-orphan-disease-research/meet-our-team/manton-center-staff Wet + dry lab~10 people Develops rare-disease diagnostics using a DNA repository, genome and exome sequencing, and patient phenotypes. Connects patients, clinicians and researchers through Boston Children’s Rare Disease Collaborative. Funded by The Manton Foundation › The Manton Foundation, Center creation partnership · active “Boston Children's Hospital joined in a partnership with The Manton Foundation to create a center” Source: lab pages 12 platforms and techniques › Works with Gene Discovery Core (GDC), research genome sequencing, exome sequencing, copy number variant calling, mitochondrial variant evaluation, OpenAI reasoning models Techniques exome reanalysis, structural variant detection, tandem repeat expansion analysis, natural language processing, splice-switching oligonucleotide therapy, genotype-phenotype analysis Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Scalable implementation of MONDO ontology and proof-of-concept application towards virtual gene panels at an institutional rare disease collaborative Genetic, Genomic, and Epigenomic Resources and Databases Genotype-phenotype correlationsGenomicsVariant interpretationDiagnostics
Sampson Labsampsonlab.org Wet + dry lab~7 people Analyzes genome/exome sequencing, bulk and single-cell transcriptomics, and kidney eQTL data. Uses human genomics and biobanks to study nephrotic syndrome and inform diagnosis and treatment. 31 papers since 2024 › Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group American Journal of Kidney Diseases, 2024 Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today Kidney International, 2024 Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy Journal of the American Society of Nephrology, 2024 Source: OpenAlex author A5057786239 14 platforms and techniques › Analyzes genome sequencing, exome sequencing, bulk transcriptomics, single-cell transcriptomics, single-cell RNA-Seq, microarray expression data Techniques computational genomics, systems genomics, genetic epidemiology, GWAS, eQTL/pQTL studies, single-cell multiomic analysis, transcriptome-driven genetic diagnosis, variant calling Source: lab pages Currently hiring › “We now seek an intellectually curious and independent thinking post-doctoral fellow” Source: lab positions page No funding stated	Poster Wed Oct 21 2:30 pm Landscape and genetic regulation of ADAR-mediated A-to-I RNA editing in kidney tissue from patients with nephrotic syndrome Molecular Effects of Genetic Variation Collaborators: Broad Institute GenomicsGenotype-phenotype correlationsQuantitative traitStatistical genetics
Hsiao Lab @ UCLA — Microbes, Guts & Brainshsiao.science Works in population genetics.	Poster Fri Oct 23 2:30 pm Phenome-wide Association Analysis of hEDS-Associated Variants in TNXB and IL13RA2 Statistical Genetics and Genetic Epidemiology Collaborators: University of California, Los Angeles, Harvard University +4 more Candidate geneGenetic variationGenotype-phenotype correlationsLarge-scale biobanks
International Fetal Genomics Consortiumfetalgenomics.org Works in reproductive and prenatal genetics.	Talk Thu Oct 22 11:15 am A comprehensive noninvasive fetal sequencing (NIFS) test reproduces 97.2% of fetal diagnoses identified by invasive diagnostic sequencing Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis Collaborators: Massachusetts General Hospital, Broad Institute +6 more Cell-free DNAExome/genome sequencingNIPTPrenatal diagnosis
Fleming Lab Works in reproductive and prenatal genetics.	Poster Fri Oct 23 2:30 pm Maternal HLA Heterozygote Advantage and Immune Adaptation in Preeclampsia: Evidence from TOPMed BCC-PREG and nuMoM2b-HHS Cohorts Prenatal, Perinatal, Reproductive, and Developmental Genetics Collaborators: Massachusetts General Hospital, Broad Institute +10 more Immune systemProteomicsReproductive geneticsWomen's health
RESCUE project (Rare Disease Detection and Escalation Support via a Learning Health System) Works in cancer genetics and clinical genetics.	Poster Wed Oct 21 2:30 pm Healthcare Engagement Following Return of Genomic-Informed Breast Cancer Risk in the eMERGE Network: A 6-Month Preliminary Analysis Complex Traits and Polygenic Disorders Collaborators: Columbia University Irving Medical Center, Vanderbilt Health +4 more CancerPolygenic risk scoreBehaviorElectronic health records
2 more presenters — research group not yet identified

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