ASHG 2026 · Hospital & health system

Children's Hospital of Philadelphia at ASHG 2026

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

Philadelphia, Pennsylvania

Children's Hospital of Philadelphia at ASHG 2026 in Montréal: 9 presentations (7 posters, 1 featured symposium, 1 platform talk); 8 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Children's Hospital of Philadelphia Philadelphia, Pennsylvania	4 PIs · 2 Staff Scientists · 2 Clinicians · 1 Postdoc
Center for Applied Genomicsresearch.chop.edu/center-for-applied-genomics/team Wet + dry lab~56 people Provides next-generation sequencing, single-cell sequencing, genotyping and biorepository services, including Sanger/TaqMan workflows. Uses them to diagnose and treat children with rare and complex disorders. 155 papers since 2024 › Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Dependency-aware deep generative models for multitasking analysis of spatial omics data Nature Methods, 2024 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Nature Neuroscience, 2024 Source: OpenAlex author A5088244425 Funded by Children’s Hospital of Philadelphia › Children’s Hospital of Philadelphia, $40 million commitment to genomically characterize approximately 100,000 children · active “He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children.” Source: lab pages 8 platforms and techniques › Runs Next-generation sequencing, Single-cell sequencing, Genotyping, Sanger sequencing, TaqMan Techniques DNA extraction, Variant validation, Copy-number-variation studies Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Biological-state-dependent genetic susceptibility reveals ancestry-structured 1q31 architecture in steroid-dependent asthma Statistical Genetics and Genetic Epidemiology Collaborators: University of Pennsylvania, University of Iceland AsthmaGenetic epidemiologyGenome-wide association studyPhenotype Poster Thu Oct 22 4:15 pm NF-κB-centered pathway-restricted polygenic scores are associated with asthma morbidity across adult and pediatric cohorts Complex Traits and Polygenic Disorders AsthmaPolygenic risk scoreGene environment interaction Poster Fri Oct 23 2:30 pm Preclinical evaluation of AAV9-mediated CHAMP1 gene therapy in a mouse model of CHAMP1 disorder Mendelian Phenotypes Collaborators: University of Pennsylvania BehaviorGene therapyModel organismsNervous system
Division of Genomic Diagnosticschop.edu/centers-programs/pathology-and-laboratory-medicine/division-genomic-diagnostics Wet lab~31 people Runs cytogenetics, chromosomal microarray, exome sequencing, FISH and next-generation sequencing tests. Supports diagnosis, cancer care and transplant management. 23 papers since 2024 › Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways Journal of the American College of Cardiology, 2025 Parents’ perceptions of the utility of genetic testing in the NICU Genetics in Medicine, 2025 Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation The American Journal of Human Genetics, 2024 Source: OpenAlex author A5028020710 14 platforms and techniques › Runs Cytogenetics, Chromosomal microarray analysis, Exome sequencing, Fluorescence in situ hybridization (FISH), Next-generation sequencing panels, Cancer transcriptome analysis (RNA sequencing), HLA typing by next-generation sequencing, Karyotype Techniques Molecular cytogenetics, MLPA, Sanger sequencing, HLA antibody screening, Donor-recipient crossmatching, Chimerism studies Source: lab pages No funding stated · No openings posted	Poster Thu Oct 22 4:15 pm Revealing the hidden landscape of selection: detecting divergent, soft, and incomplete signatures in diverse human genomes Evolutionary and Population Genetics Collaborators: Duke University, University of Pennsylvania Statistical geneticsPopulation geneticsEvolutionary geneticsEvolution Poster Fri Oct 23 2:30 pm Exome-Wide Copy Number Variation in 142,357 Individuals from Autism Spectrum Families in the Simons SPARK Cohort Artificial Intelligence and Machine Learning Collaborators: University of Pennsylvania, Centre Hospitalier Universitaire Sainte-Justine +1 more Autoimmune disorderBioinformaticsCopy number/structural variationExome/genome sequencing
22q and You Centerchop.edu/centers-programs/22q-and-you-center Provides diagnostic and genetic testing, including FISH for 22q11.2 deletion. Studies 22q deletion syndrome to discover causes and improve affected children’s lives. 3 papers since 2024 › Shorter Distance to Main Academic Center Associated with Better Longitudinal Care and Follow-Up in Adult Patients with 22q11.2 Deletion Syndrome Journal of Human Immunity, 2026 Cardiac Complexity Predicts Increased Immune Diagnostic Burden in 22q11.2 Deletion Syndrome Journal of Human Immunity, 2026 Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion Molecular Psychiatry, 2026 Source: OpenAlex author A5129245907 2 platforms and techniques › Runs FISH (fluorescence in situ hybridization) Techniques FISH (fluorescence in situ hybridization) Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm Impact of cell free DNA screening for 22q11.2 copy number variants Prenatal, Perinatal, Reproductive, and Developmental Genetics Collaborators: University of Pennsylvania, University of Toronto +1 more Chromosomal deletionsCell-free DNADiagnosticsEthical, legal, and social implications
DBHi Bioinformaticsresearch.chop.edu/dbhi-bioinformatics/team Dry lab~28 people Analyzes WGS, exome, RNA-seq, optical-mapping, proteomics and array data from Illumina, PacBio, 10x Genomics and Bionano. Supports CHOP research and clinical applications. 48 papers since 2024 › Human BioMolecular Atlas Program (HuBMAP): 3D Human Reference Atlas construction and usage Nature Methods, 2025 Aging and putative frailty biomarkers are altered by spaceflight Scientific Reports, 2024 Astronaut omics and the impact of space on the human body at scale Nature Communications, 2024 Source: OpenAlex author A5010519012 15 platforms and techniques › Analyzes Illumina, PacBio, 10x Genomics, Bionano, ChIP-seq, Methyl-seq, Expression arrays, DDA, DIA and PRM proteomics Techniques Single-cell RNA-seq, RNA velocity, Optical mapping, Proteogenomics, ChIP-seq, Methyl-seq, Machine learning Source: lab pages No funding stated · No openings posted	Symposium Wed Oct 21 8:55 am The Common Fund Data Ecosystem Data Distillery Knowledge Graph: Unifying Common Fund insights through structured connectivity Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem
Division of Genetic and Genomic Medicinechop.edu/centers-programs/division-genetic-genomic-medicine/our-team Wet + dry lab~61 people Performs genomic testing and analyzes genomic sequencing data. Applies these approaches to pediatric genetic disease diagnosis and therapeutic development. 35 papers since 2024 › SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns The American Journal of Human Genetics, 2025 Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 The American Journal of Human Genetics, 2024 Source: OpenAlex author A5001024294 Funded by National Institutes of Health, National Institutes of Health +2 more › National Institutes of Health, Somatic Cell Genome Editing Program (SCGE) · active “The grant, funded by the National Institutes of Health through its Somatic Cell Genome Editing Program” National Institutes of Health, R01NS107392 · active The NIH's standard multi-year research project grant. “National Institutes of Health (NIH) grant R01NS107392” Children's Hospital of Philadelphia, Roberts Collaborative Functional Genomics Rapid grant · active “the CHOP Roberts Collaborative Functional Genomics Rapid grant” +1 more on the lab page Source: lab pages 7 platforms and techniques › Analyzes Genomic sequencing Techniques Phenotyping, Modeling in fly and stem cells, Fruit-fly models, Human stem-cell models, CRISPR/Cas9 gene deletion, Prime editing Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Brain splicing QTL mapping reveals RNA processing mechanisms associated with autism spectrum disorder Cancer Collaborators: University of Pennsylvania Alternative splicingGenetic variationNeurodevelopmentalTranscriptome
Ahrens-Nicklas Labahrensnicklaslab.com Wet + dry lab~14 people Develops gene and cell therapies using CRISPR/Cas9, iPSC and mouse models, VSDI, EEG and multiomic analysis. Studies rare pediatric metabolic disorders and neurodegeneration. 20 papers since 2024 › Developing a therapeutic in vivo prime editing strategy for MCAD deficiency Molecular Genetics and Metabolism, 2026 Developing and deploying personalized gene-editing therapies Molecular Genetics and Metabolism, 2026 Understanding the Patient Journey, Current Treatment Approaches and Emerging Therapeutic Opportunities in CLN2 Batten Disease medRxiv, 2026 Source: OpenAlex author A5128153718 12 platforms and techniques › Works with Voltage Sensitive Dye Imaging (VSDI), EEG, CRISPR/Cas9-mediated genome editing, iPSC-based cell models, Biobank genomic datasets Techniques CRISPR/Cas9 genome editing, iPSC-based cell models, Mouse models, Multiomic analysis, Ex vivo gene therapy with hematopoietic stem cell transplant, Adenine base editing, Natural history and biomarker studies Source: lab pages No funding stated · No openings posted	🏅ASHG Early Career Award Attendee inNamed in a LinkedIn post about ASHG 2026
Bhoj Laboratoryresearch.chop.edu/bhoj-laboratory Wet lab~1 people Studies pediatric disease genes using sequencing, patient cells, mouse models and iPSC cells. Develops targeted therapies for TBCK-, H3F3A/B- and MAP4K4-related neurologic disease. 36 papers since 2024 › Role of CAMK2D in neurodevelopment and associated conditions The American Journal of Human Genetics, 2024 Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants Genetics in Medicine, 2024 KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders Cell stem cell, 2024 Source: OpenAlex author A5091497415 Funded by Burroughs Wellcome Foundation, University of Pennsylvania +1 more › Burroughs Wellcome Foundation, Career Award for Medical Scientists · 2018 “Career Award for Medical Scientists, Burroughs Wellcome Foundation, 2018” University of Pennsylvania, Neurodevelopmental Research Salary Support Award · 2014, 2015 “Neurodevelopmental Research Salary Support Award, University of Pennsylvania, 2014, 2015” University of Pennsylvania, Institute for Translational Medicine and Therapeutics Scholarship · 2014 “Institute for Translational Medicine and Therapeutics Scholarship, University of Pennsylvania, 2014” Source: lab pages 6 platforms and techniques › Techniques patient cells, mouse models, iPSC cells, animal models, pathway analysis, drug screen Source: lab pages No openings posted	Moderator Fri Oct 23 1:30 pm Decoding Malformation Syndromes: New Disease Genes Across Organ Systems
Raymond G. Perelman Center for Cellular and Molecular Therapeutics Works in computational genetics.	Talk Thu Oct 22 8:30 am A multi-modal nanopore foundation model enables de novo single-molecule discovery of DNA and RNA modifications Sequence Models Transforming Genetics and Genomics Collaborators: Drexel University, University of Pennsylvania Artificial intelligenceComputational toolsEpigeneticsLong-read sequencing

Meeting Children's Hospital of Philadelphia in Montréal?

Get in-depth attendee and institution profiles and research, to plan your meetings in Montréal. Leave your work email and we’ll be in touch.

Not affiliated with or endorsed by the American Society of Human Genetics. Submit a correction