ASHG 2026 · Tier 2–3 Academic

University of California, Irvine at ASHG 2026

Irvine, California

University of California, Irvine at ASHG 2026 in Montréal: 11 presentations (8 posters, 2 platform talks, 1 lightning talk); 6 research groups.

11
presentations on the program
6
research groups identified
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of California, Irvine
Irvine, California
3 Undergrads · 3 PhD Students · 2 PIs
UCI-GREGoRgregorconsortium.org/center/university-california-irvine-gregor
Investigates rare Mendelian disease using exome, genome and long-read sequencing data. Partners with Children’s National Hospital and Invitae to improve diagnosis and variant interpretation.
25 papers since 2024
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Genome Medicine, 2025
Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement
Hormone Research in Paediatrics, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
medRxiv, 2024
Source: OpenAlex author A5037264695
Funded by NIH, National Human Genome Research Institute (NHGRI)
NIH, Pediatric Mendelian Genomics Research Center · Jun 1, 2021 - Mar 31, 2027
“Pediatric Mendelian Genomics Research Center NIH U01HG011745 Jun 1, 2021 - Mar 31, 2027”
National Human Genome Research Institute (NHGRI), GREGoR Consortium · active
“The GREGoR Consortium is funded by the National Human Genome Research Institute (NHGRI).”
Source: lab pages
10 platforms and techniques
Analyzes
exome and genome sequencing, long-read sequencing, HiFi sequencing, optical genome mapping, epigenomic sequencing
Techniques
phenotyping, variant identification, functional investigation of coding and non-coding sequence changes, automated reanalysis, accurate variant calling
Source: lab pages
No openings posted
Talk
Wed Oct 21
1:35 pm
Deploying long-read sequencing to bridge diagnostic and equity gaps in rare disease
Genetic Variation: From Catalogs to Consequences
Collaborators: Children's National
Long-read sequencingMulti-omicsMutation detectionRare variants
Poster
Thu Oct 22
4:15 pm
A Generalizable Translational Genomics Data Platform built using the GREGoR Consortium
Genetic, Genomic, and Epigenomic Resources and Databases
BioinformaticsDatabasesGenomicsLarge-scale biobanks
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Deploying long-read sequencing to bridge diagnostic and equity gaps in rare disease
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: Children's National
AtaxiaLong-read sequencingMulti-omicsMutation detection
Chen Labrchenlab.github.io
Wet + dry lab~18 people
Uses next-generation sequencing, single-cell omics, patient-derived iPSC, retinal organoids, mice and machine learning to study visual disease. Develops genetic diagnostics and retinal therapeutics.
126 papers since 2024
Intratumoral mycobiome heterogeneity influences the tumor microenvironment and immunotherapy outcomes in renal cell carcinoma
Science Advances, 2025
NEDD4 lactylation promotes APAP induced liver injury through Caspase11 dependent non-canonical pyroptosis
International Journal of Biological Sciences, 2024
A Zn-MOF-GOx-based cascade nanoreactor promotes diabetic infected wound healing by NO release and microenvironment regulation
Acta Biomaterialia, 2024
Source: OpenAlex author A5100403693
16 platforms and techniques
Works with
NGS-based panel, Whole-exome sequencing, Whole-genome sequencing, MERFISH, Illumina short-read sequencing, Oxford Nanopore Technologies long-read sequencing, 10x 5′ single-cell RNA sequencing, single ATAC-seq
Techniques
patient-derived iPSC, retinal organoids, mouse models, non-human primate models, machine learning, deep learning, base editing, prime editing
Source: lab pages
Currently hiring
“We are recruiting audacious postdocs to uncover the genetic code of human diseases.”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Distinct somatic mutation load and signature identified across different part of the human eye
Omics Technologies
Collaborators: Baylor College of Medicine
Mutation detectionSomatic variants
Talk
Sat Oct 24
10:00 am
High-Throughput Splicing Assay to Functionally Characterize Genetic Variants with Splicing Effect
Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms
Visual systemsAlternative splicing
Kimonis Labsites.uci.edu/kimonislab/personnel
Wet lab~5 people
Develops CRISPR mouse models and patient iPSC-derived myoblasts for hereditary myopathy research. Tests antisense oligonucleotides and gene therapy for rare neuromuscular and lysosomal disorders.
46 papers since 2024
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
Neurobiology of Disease, 2025
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Genome Medicine, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Genetics in Medicine, 2024
Source: OpenAlex author A5054611483
Funded by Muscular Dystrophy Association, National Institutes of Health
Muscular Dystrophy Association · active
“Scientists in the Kimonis lab who have funding from the Muscular Dystrophy Association (MDA).”
National Institutes of Health · active
“Scientists in the Kimonis lab who have funding from the ... National Institutes of Health (NIH).”
Source: lab pages
11 platforms and techniques
Runs
CRISPR mouse model, Patient iPSC-derived skeletal muscle progenitor cells, Disease mouse models, iPSC-derived myoblasts, Gene expression array technology, Adeno-associated viruses (AAV)
Techniques
CRISPR, Antisense oligonucleotide technology, Gene therapy, Autophagy modulation, Stem-cell differentiation into muscle cells
Source: lab pages
Currently hiring
“Postdoctoral Fellow. Job Location: Kimonis Laboratory in Hewitt Hall at University of California, Irvine.”
Source: lab positions page
Talk
Wed Oct 21
11:15 am
CNS-directed transferrin receptor-targeted enzyme replacement therapy for β-Mannosidosis
Mice, Mutations, and Molecular Mysteries
Collaborators: Touro College, Phoenix Children's Hospital +2 more
Genotype-phenotype correlationsIntellectual and developmental disabilityLysosomal diseasesNeurodegeneration
Poster
Thu Oct 22
4:15 pm
Antisense oligonucleotides inhibiting glycogen synthase (GYS1) decrease glycogen in the neonatal Pompe disease mouse model
Genetic Therapies and Precision Medicine
Clinical geneticsGene therapyLysosomal diseasesModel organisms
Swarup Labswaruplab.bio.uci.edu
Wet + dry lab~15 people
Integrates spatial and single-nucleus transcriptomics with genomics, neuroimaging, pathology and biomarkers. Builds human-relevant Alzheimer’s mouse models through UCI MODEL-AD.
27 papers since 2024
Derivation and transcriptional reprogramming of border-forming wound repair astrocytes after spinal cord injury or stroke in mice
Nature Neuroscience, 2024
Spatial and single-nucleus transcriptomic analysis of genetic and sporadic forms of Alzheimer’s disease
Nature Genetics, 2024
Gene networks and systems biology in Alzheimer's disease: Insights from multi‐omics approaches
Alzheimer s & Dementia, 2024
Source: OpenAlex author A5048053054
Funded by National Institutes of Aging, Alzheimer’s Association +4 more
Cure Alzheimer's Fund, Grant Award · January 2026
““funded by the Cure Alzheimer's Fund””
Alzheimer’s Association, Research Grant · August 2025
““Alzheimer's Association Research Grant””
National Institutes of Aging, R01 AG071683; 1R01 NS135556; RF1NS130616; R01 AG076835 · active
The NIH's standard multi-year research project grant.
““National Institutes of Aging (R01 AG071683, 1R01 NS135556, RF1NS130616, R01 AG076835)””
+3 more on the lab page
Source: lab pages
10 platforms and techniques
Works with
spatial transcriptomics, single-cell RNA sequencing, single-nucleus RNA-seq, snATAC-seq
Techniques
human neural organoids, TDP-43 transgenic mouse models, integrative genomics, machine-learning methods, hdWGCNA, CellChat
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Flow Orchestrated Regulatory Genomics Engine (FORGE) for Multiomic Single Nucleus Resolution Epigenome Analyses
Omics Technologies
BioinformaticsMulti-omicsSystems biologySingle-cell
Poster
Fri Oct 23
2:30 pm
Operon: Agentic AI for Multi-Omic Discovery
Artificial Intelligence and Machine Learning
Artificial intelligenceGenomicsMethodology
Cooray Groupherschel.uci.edu/lab-members
Dry lab~16 people
Analyzes SPHEREx, Euclid and Herschel/SPIRE survey data with machine learning, photometric modeling and spectral analysis. Studies cosmic infrared background, galaxy evolution and strong gravitational lensing.
78 papers since 2024
Euclid
Astronomy and Astrophysics, 2024
Source: OpenAlex author A5072280155
Funded by NSF CAREER Award, McCormick Fellowship
NSF CAREER Award · 2007
“NSF CAREER Award — 2007”
McCormick Fellowship, University of Chicago Physical Sciences Division · 1997-2000
“McCormick Fellowship, University of Chicago Physical Sciences Division — 1997–2000”
Source: lab pages
12 platforms and techniques
Analyzes
SPHEREx, Euclid, HST/ACS, Herschel/SPIRE Fourier Transform Spectrometer
Techniques
Photometric modeling, Survey simulation, Source classification, Machine-learning signal extraction, Precision photometry, Spectral analysis, Automated pipelines, Convolutional neural networks
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Autonomous AI Interpretation of Genomic Data and Extraction of Clinical Data from FDA Drug Labels
Artificial Intelligence and Machine Learning
Artificial intelligenceGenetic testingGene therapyGenomics
Genomes2Veteransgenomes2people.org/research/genomes2veterans
Research group.
Poster
Fri Oct 23
2:30 pm
Change in patient activation after receiving polygenic risk score results: Findings from the GenoVA randomized trial
Complex Traits and Polygenic Disorders
Collaborators: VA Boston Healthcare System, Brigham and Women's Hospital +2 more
Genetic testingPolygenic risk scoreClinical geneticsGenetic counseling

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