Boston Children's Hospital at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Boston Children's Hospital brings 26 presentations from 18 research groups to ASHG 2026 in Montréal. Its program at this meeting centres on rare-disease diagnosis, computational genomics, and clinical translation toward therapies. The Hirschhorn Lab maps height genes and studies hypermobile Ehlers-Danlos syndrome, the Huang Laboratory tracks somatic mutations in aging brains, and the Translational Hearing Genomics Lab tests rapid newborn hearing-loss sequencing.
| Organization | ASHG 2026 Attendance |
|---|---|
Boston Children's Hospital Boston, Massachusetts | 7 PIs · 6 Postdocs · 2 Clinicians · 1 Undergrad |
Hirschhorn Labjoelhirschhornlab.org Applies computational and laboratory methods to GWAS, sequence, metabolomic and biobank data. Studies human obesity, skeletal growth and endocrine disorders with GIANT and HEDGE.
| Poster Thu Oct 22 4:15 pm Integrative variant-to-gene mapping identifies candidate genes and mechanisms for human height 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 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 Genome-wide association studyGenotype-phenotype correlationsStatistical geneticsCandidate gene |
Huang Laboratoryaugusthuanglab.org Develops computational methods for bulk whole-genome, whole-exome, bulk RNA-seq and single-cell sequencing data. Studies somatic mutations in human development, aging and disease.
| Poster Wed Oct 21 2:30 pm Single-Cell Multiomic Dissection of Cell-Type-Specific Somatic Mutagenesis in the Aging Human Brain Single-cellSomatic variantsSequencing technologyNeurogenetics Session Fri Oct 23 11:00 am Poster Fri Oct 23 2:30 pm Single-Cell Lineage Tracing Links Clonal Hematopoiesis to Inflammatory Microglia in Alzheimer's Disease Alzheimer’s diseaseSingle-cellNeurodegenerationHematopoietic system |
Translational Hearing Genomics Labhearing-genomics.org 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.
| 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 Sensory disordersNewborn screeningDiagnosticsTargeted sequencing Poster Wed Oct 21 2:30 pm Targeted Long-Read RNA Sequencing Analysis of Splice-Altering Variants in Usher Syndrome Long-read sequencingTargeted sequencingRNA-seqVariant interpretation |
Wojcik Labresearch.childrenshospital.org/research-units/wojcik-lab-research/meet-our-team 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.
| Poster Thu Oct 22 4:15 pm Putting two exome/genome sequencing reanalysis programs to work in an orphan disease cohort 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 Clinical testingEthical, legal, and social implicationsExome/genome sequencingPrecision medicine |
Yu Labtheyulab.org 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.
| Poster Thu Oct 22 4:15 pm An integrative multi-omics and deep learning framework for prioritizing noncoding variants in congenital heart disease 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 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.
| Session Thu Oct 22 1:30 pm 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 ChannelopathiesNewborn screeningCharacterization of syndromesEthical, legal, and social implications Named in a LinkedIn post about ASHG 2026View post on LinkedInPosted Aug 19, 2026Also ASHG Scientific Achievement Award ×2 |
Cornelia de Lange Syndrome and Related Disorders Clinicresearch.childrenshospital.org/research-units/childrens-rare-disease-collaborative/crdc-rare-diseases/cornelia-de-lange-syndrome Builds sample, genomic and clinical data repositories for Cornelia de Lange syndrome and related disorders. Identifies causal mutations and new disorders.
| Poster Wed Oct 21 2:30 pm Expanded Natural History of STAG1 Cohesinopathy Clinical geneticsIntellectual and developmental disabilityMendelian disorderNatural history |
Division of Genetics & Genomicsbchgenetics.org 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.
| 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 Characterization of syndromesMendelian disorderNeurodevelopmentalPhenotype |
Ebrahimi-Fakhari Laboratorydef-lab.org 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.
| Poster Fri Oct 23 2:30 pm Advancing Clinical Trial Readiness Across Hereditary Spastic Paraplegias: A Structured Framework Gene therapyClinical testingNeurogeneticsBrain/nervous system |
Gutierrez-Arcelus Labgutierrezarceluslab.com/team Studies immune-mediated disease using genetics, bulk and single-cell RNA-seq, ATAC-seq and other omic assays. Focuses on SLE, axial spondyloarthritis, asthma and allergic disease.
| Poster Fri Oct 23 2:30 pm A non-coding SLE risk variant alters IRF5 isoform usage and promotes DN2 B-cell expansion Alternative splicingAutoimmune disorderGenome editing/CRISPRImmune system |
Lee Laboratoryresearch.childrenshospital.org/research-units/dongwon-lee-laboratory-research 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.
| Poster Wed Oct 21 2:30 pm Kidzoi Enables Cell-Type-Specific Regulatory Variant Effect Prediction in the Kidney 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 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.
| 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 Genotype-phenotype correlationsGenomicsVariant interpretationDiagnostics |
Sampson Labsampsonlab.org 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.
| 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 GenomicsGenotype-phenotype correlationsQuantitative traitStatistical genetics |
Translational Genomic Medicine Coretranslationalneurosciencecenter.org/core-facilities Consults on variant interpretation, genotype-phenotype analyses and gene-target evaluation for rare Mendelian neurodevelopmental disorders. Supports natural-history studies, preclinical research and monogenic clinical trials.
| Poster Wed Oct 21 2:30 pm Expanding the Clinical and Molecular Spectrum of RNU-Related Disorders: Evidence of Underrecognized Dysautonomia AutismNatural historyNeurodevelopmentalNeurogenetics |
Poster Fri Oct 23 2:30 pm Phenome-wide Association Analysis of hEDS-Associated Variants in TNXB and IL13RA2 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 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 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 CancerPolygenic risk scoreBehaviorElectronic health records |
| 2 more presenters — research group not yet identified | |
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