ASHG 2026 · Tier 1 Academic

Washington University in St. Louis at ASHG 2026

St Louis, Missouri

Washington University in St. Louis at ASHG 2026 in Montréal: 17 presentations (14 posters, 3 platform talks); 12 research groups.

17
presentations on the program
12
research groups identified
3
sessions invited to or moderated
2
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Washington University in St. Louis
St Louis, Missouri
4 PIs · 4 PhD Students · 2 Postdocs · 2 Staff Scientists · 1 announced attending
Belloy Labbelloylab.wustl.edu
Dry lab~4 people
Analyzes functional genomics, multi-omics, MRI, PET and publicly available cohort data with bioinformatics tools. Identifies novel genetic risk variants and molecular mechanisms for drug development.
47 papers since 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease
Acta Neuropathologica, 2024
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer’s disease pathology
Neuron, 2024
Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference
Alzheimer s & Dementia, 2024
Source: OpenAlex author A5085487067
Funded by National Institutes of Aging, Cure Alzheimer’s Fund +1 more
National Institutes of Aging · active
“Our lab operates with support from: National Institutes of Aging”
Cure Alzheimer’s Fund · active
“Our lab operates with support from: Cure Alzheimer’s Fund”
Alzheimer’s Association · active
“Our lab operates with support from: Alzheimer’s Association”
Source: lab pages
7 platforms and techniques
Analyzes
MRI, PET
Techniques
functional genomics, bioinformatics analysis, transcriptomic analysis, Mendelian randomization, multi-omics analysis
Source: lab pages
Currently hiring
“Now hiring for open positions”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Long-Read Sequencing-Informed Genomic Analyses Elucidate Haptoglobin Structural Variation in Female-Specific Alzheimer’s Disease Risk
Complex Traits and Polygenic Disorders
Collaborators: Stanford University, University of Parma +3 more
Alzheimer’s diseaseGenome-wide association studyLong-read sequencingProteomics
Poster
Thu Oct 22
4:15 pm
Sex-stratified X-chromosome expression quantitative trait loci across brain cell types identify candidate genes in neurodegenerative diseases
Complex Traits and Polygenic Disorders
Collaborators: Columbia University Irving Medical Center
BioinformaticsCandidate geneIdentification of disease genesExpression quantitative trait loci
Poster
Fri Oct 23
2:30 pm
LocusBlend: an interactive multi-tagged visualization tool for complex genomic loci
Statistical Genetics and Genetic Epidemiology
Alzheimer’s diseaseExpression quantitative trait lociGenome-wide association studyLinkage disequilibrium
Talk
Sat Oct 24
9:45 am
★ Reviewers’ Choice
An APOE*4-informed genomic atlas of the X chromosome in Alzheimer’s disease
X,Y and Why? - Mechanism of Sex Bias in Neuronal Disorders
Collaborators: University of North Carolina at Chapel Hill, Vanderbilt University +8 more
Alzheimer’s diseaseCandidate geneGenomicsNeurogenetics
Baldridge Labdustinbaldridgelab.wustl.edu
Wet + dry lab~6 people
Develops deep mutational scanning and high-throughput cell-based assays, combining exome sequencing with linked electronic health-record data. Studies rare Mendelian disorders and variants of uncertain significance.
28 papers since 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC
Science, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5068371988
Funded by National Human Genome Research Institute, National Human Genome Research Institute +5 more
National Human Genome Research Institute · active
“National Human Genome Research Institute”
National Human Genome Research Institute, K08 · active
“He is a funded NHGRI K08 awardee”
Undiagnosed Diseases Network · active
“Undiagnosed Diseases Network”
+4 more on the lab page
Source: lab pages
11 platforms and techniques
Works with
Deep mutational scanning, High-throughput cell-based assays, Transcription factor reporter assays, Exome sequencing, Genome sequencing, Electronic health-record data
Techniques
Functional genomics, Variant-level analysis, Model-organism screening, Informatics, Variants-of-uncertain-significance classification
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Advancing deep mutational scanning through optimized reporter integration
Molecular Effects of Genetic Variation
Massively parallel sequencingRare variantsSomatic variantsVariant interpretation
Poster
Thu Oct 22
4:15 pm
Functional mapping of SMO via Deep Mutational Scanning to resolve missense Variants of Uncertain Significance
Molecular Effects of Genetic Variation
Variant interpretationMendelian disorderMassively parallel sequencingTranscription factor
Poster
Fri Oct 23
2:30 pm
Reproducible scoring and visualization for Sort-seq MAVEs
Omics Technologies
BioinformaticsComputational toolsGenetic variationVariant interpretation
Cruchaga Labcruchagalab.wustl.edu
Wet + dry lab~41 people
Generates and analyzes WGS, proteomics, metabolomics, transcriptomics and lipidomics from brain, plasma, CSF and iPSCs. Studies Alzheimer disease biomarkers, risk variants and drug targets.
197 papers since 2024
The Global Neurodegeneration Proteomics Consortium: biomarker and drug target discovery for common neurodegenerative diseases and aging
Nature Medicine, 2025
A cerebrospinal fluid synaptic protein biomarker for prediction of cognitive resilience versus decline in Alzheimer’s disease
Nature Medicine, 2025
Neuroinflammation in Alzheimer disease
Nature reviews. Immunology, 2024
Source: OpenAlex author A5040490170
Funded by National Institute of Ageing, CZI +2 more
National Institute of Ageing · active
“several grants from the National Institute of Ageing”
CZI · active
“several grants from the National Institute of Ageing, the CZI”
NIH, K01 · active
“currently leads an NIH K01-funded program”
+1 more on the lab page
Source: lab pages
13 platforms and techniques
Analyzes
Illumina sequencing WGS, Whole-exome sequencing, RNA sequencing, Short- and long-read single-nuclei RNA sequencing, Proteomics, Metabolomics, Lipidomics
Techniques
Machine learning and AI, Mendelian randomization, coloc and FUSION, GWAS, CRISPR-engineered stem cell models, iPSC-derived neurons, microglia and astrocytes, QTL analysis
Source: lab pages
Currently hiring
“The Cruchaga lab at Washington University School of Medicine has a fully funded Postdoctoral position”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Plasma Proteomics Reveals White Matter Hyperintensity-Specific Signatures and Predictive Biomarkers
Complex Traits and Polygenic Disorders
BioinformaticsBrain/nervous systemMachine learningNeurodegeneration
Poster
Fri Oct 23
2:30 pm
Integration of Human ADAD Models Implicates Neuronal ß-Oxidation as a Core Disease Mechanism and HADHA as a Treatment Target
Statistical Genetics and Genetic Epidemiology
Collaborators: Children's Hospital of Philadelphia
Alzheimer’s diseaseBioinformaticsIdentification of disease genesNeurodegeneration
Jin Labscjin.github.io
Wet + dry lab~13 people
Studies human disease with short- and long-read sequencing, transcriptomic, epigenomic and proteomic data. Seeks genetic mechanisms and diagnoses for cardiovascular, neurological and undiagnosed disorders.
36 papers since 2024
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Proceedings of the National Academy of Sciences, 2025
Injectable polyplex-loaded glycol chitosan thermogel for efficient and safe inner ear gene delivery
Journal of Controlled Release, 2025
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Brain, 2024
Source: OpenAlex author A5036776618
Funded by NIH, NIH +4 more
Cerebral Palsy Alliance Research Foundation, Project Grant · 2022-2027
“Cerebral Palsy Alliance Research Foundation Project Grant, 2022-2027”
NIH, R01NS131610: Molecular and Cellular Characterization of Congenital Hydrocephalus · active
The NIH's standard multi-year research project grant.
“R01NS131610: Molecular and Cellular Characterization of Congenital Hydrocephalus (Role: PI)(Active)”
NIH, U19NS130607: INTERCEPT: Integrated Research Center for Human Pain Tissues · active
“U19NS130607: INTERCEPT: Integrated Research Center for Human Pain Tissues (Role: Project 1 Co-PI and Data Core PI) (Active)”
+3 more on the lab page
Source: lab pages
10 platforms and techniques
Works with
short- and long-read genome sequencing, whole genome sequencing, single-cell RNA-sequencing, massively parallel reporter assays, CRISPR/Cas9 screens, high-throughput imaging
Techniques
zebrafish model systems, functional genomic assays, machine learning, quantitative phenotyping
Source: lab pages
Currently hiring
“The Jin Lab is seeking a talented and enthusiastic postdoctoral fellow to join our growing team”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
Proteomics reveals biomarkers and reproducible axonal injury signature of idiopathic peripheral neuropathy
Omics Technologies
Collaborators: Johns Hopkins University
NeurodegenerationProteomicsMulti-omicsCharacterization of disorders
Talk
Sat Oct 24
10:30 am
Large-scale integrative whole-genome analyses revealed a high prevalence of dominant MME variants and a rare NEFH promoter mutation in idiopathic peripheral neuropathy
Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms
Collaborators: Johns Hopkins University, Montreal Neurological Institute and Hospital
Exome/genome sequencingGenetic variationGenomicsNeurogenetics
Turner Labturnerlab.wustl.edu
Wet + dry lab~7 people
Runs PacBio HiFi, short-read and long-read sequencing, Hi-C and targeted sequencing to study neurodevelopmental genomic variation. Focuses on autism and related neurodevelopmental disorders.
28 papers since 2024
Time trends in the male to female ratio for autism incidence: population based, prospectively collected, birth cohort study
BMJ, 2026
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology, 2024
Examining Sex Differences in Autism Heritability
JAMA Psychiatry, 2024
Source: OpenAlex author A5065768941
Funded by National Institute of Mental Health, Eunice Kennedy Shriver National Institute of Child Health & Human Development +8 more
National Institute of Mental Health, R01MH126933 · active
The NIH's standard multi-year research project grant.
“National Institute of Mental Health (NIMH) | R01MH126933 | Noncoding mutations in neurodevelopmental disorders”
Eunice Kennedy Shriver National Institute of Child Health & Human Development, R03HD116062 · active
“R03HD116062 | A Comprehensive De Novo Variant Callset for the Gabriella Miller Kids First Pediatric Research Program Birth Defect Data”
National Institute of Child Health and Human Development, P50HD103525 · active
“P50HD103525 | Washington University Intellectual and Developmental Disabilities Research Center”
+7 more on the lab page
Source: lab pages
15 platforms and techniques
Runs
PacBio Revio, PacBio HiFi long-read whole-genome sequencing, Zymo HMW MagBead Kit, Maxwell RSC Cultured Cells DNA Kit, Maxwell RSC simplyRNA Cells Kit, Arima Kit for Hi-C, sageHLS CATCH, Illumina ATAC-sequencing
Techniques
Karyotype assessment, Hi-C, Targeted sequencing, Long-read sequencing, Short-read sequencing, Cultured HEK293 cells, Knockout mouse model
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Genomic configurations model genome-scale organization of autism-associated variation
Complex Traits and Polygenic Disorders
AutismGenomicsExome/genome sequencingNeurodevelopmental
Poster
Fri Oct 23
2:30 pm
High-Throughput Screening Of De Novo Noncoding Variants To Study Its Implication In Autism Spectrum Disorders.
Molecular Effects of Genetic Variation
Collaborators: The University of Texas Health Science Center at Houston, Boston Children's Hospital
AutismGenetic variationGenomicsRare variants
Laboratory Genetics and Genomics Fellowshippathology.wustl.edu/education/clinical-fellowships/laboratory-genetics-and-genomics-fellowship
~12 people
Trains fellows to interpret cytogenetic and molecular genetic assays across tumor, cell-free DNA, bone marrow, fibroblast and saliva specimens. Supports inherited and acquired disease diagnosis.
143 papers since 2024
Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation
Cell Metabolism, 2024
Biodegradable Janus sonozyme with continuous reactive oxygen species regulation for treating infected critical-sized bone defects
Nature Communications, 2024
Impaired degradation of PLCG1 by chaperone-mediated autophagy promotes cellular senescence and intervertebral disc degeneration
Autophagy, 2024
Source: OpenAlex author A5014323068
9 platforms and techniques
Analyzes
clinical cytogenetic tests, molecular genetic tests, genomic copy number variant testing, single-nucleotide variant testing, loss-of-heterozygosity testing
Techniques
cytogenetic methodologies, molecular genetic methodologies, assay development and validation, clinical interpretation of genetic diagnostic tests
Source: lab pages
No funding stated · No openings posted
Talk
Wed Oct 21
11:30 am
Molecular features of disorders of somatic mosaicism: Variant clustering and allele fraction patterns across 1,337 patients
Clone Wars: Mutability and Its Consequences
MosaicismSomatic variantsVariant interpretationRare variants
Long Life Family Study Data Management and Coordinating Center (DMCC)longlifefamilystudy.com/data-management-and-coordinating-center
Dry lab~14 people
Manages LLFS phenotype, GWAS, WGS, metabolome, transcriptome, methylome and proteome data through REDCap, SAS and dbGaP. Supports cleaned data releases and analyses for LLFS investigators.
49 papers since 2024
Polygenic prediction of body mass index and obesity through the life course and across ancestries
Nature Medicine, 2025
Genetic risk accentuates dietary effects on hepatic steatosis, inflammation and fibrosis in a population-based cohort
Journal of Hepatology, 2024
A microbiome-directed therapeutic food for children recovering from severe acute malnutrition
Science Translational Medicine, 2024
Source: OpenAlex author A5004832167
Funded by National Institute on Aging (NIA), U19 grant +1 more
U19 grant · active
“the single U19 grant”
National Institute on Aging (NIA)
“In response to a request for applications from the National Institute on Aging (NIA), the Long Life Family Study was initiated”
U01 grants
“previous LLFS funding mechanism of 5 linked U01s”
Source: lab pages
13 platforms and techniques
Analyzes
SAS, REDCap, dbGaP, Whole-genome sequencing, Whole-genome bisulfite sequencing, RNA-sequencing, Metabolome, Proteome
Techniques
Quality control, Quality assurance, Data harmonization, Data cleaning, Phenotypic harmonization
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Evidence of epistatic interactive effects of HK1 and GCK genes on circulating hemoglobin A1c levels
Statistical Genetics and Genetic Epidemiology
Collaborators: Columbia University Irving Medical Center, University of Minnesota +3 more
DiabetesGenetic epidemiologyGenome-wide association studyQuantitative trait
Lawson Lablawsonlab.wustl.edu
Wet + dry lab
Integrates whole-genome sequence and phenotypic data with mouse models. Studies parent-of-origin, diet and obesity-related metabolic traits, then translates findings to human datasets.
9 papers since 2024
A global view of human centromere variation and evolution
Nature, 2026
The Somatic Mosaicism across Human Tissues Network
Nature, 2025
Deciphering the impact of genomic variation on function
Nature, 2024
Source: OpenAlex author A5003462162
4 platforms and techniques
Analyzes
whole-genome sequence data
Techniques
mouse models, mouse phenotyping and husbandry, cultured cells
Source: lab pages
No funding stated · No openings posted
OutSMaHT Working Groupsmaht.org/working-groups
~2 people
Promotes SMaHT through social media, online videos, tutorials, workshops and website maintenance. Supports training around SMaHT products and data releases.
Funded by NIH Common Fund
NIH Common Fund · active
“SMaHT is funded by NIH Common Fund.”
Source: lab pages
No openings posted
Stitziel Labstitziellab.wustl.edu
Wet + dry lab~14 people
Maps cardiovascular disease genes with high-throughput genomic sequencing, human genetics, bioinformatics and single-cell multiomic technologies. Applies findings to polygenic prediction and patient care.
50 papers since 2024
Targeting immune–fibroblast cell communication in heart failure
Nature, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Deciphering the impact of genomic variation on function
Nature, 2024
Source: OpenAlex author A5068755630
7 platforms and techniques
Runs
high-throughput genomic sequencing, single-cell multiomic technologies
Techniques
human genetics and bioinformatics, genetic mapping, polygenic prediction, mouse models, single-cell multiomics
Source: lab pages
No funding stated · No openings posted
Moderator
Thu Oct 22
8:15 am
Dickson Lab
Works in rare disease and therapeutics.
Poster
Fri Oct 23
2:30 pm
Cotreatment of mucopolysaccharidosis type I heart disease with angiotensin receptor blockade and enzyme replacement therapy
Genetic Therapies and Precision Medicine
Cardiovascular systemLysosomal diseasesMendelian disorderMolecular therapeutics
Division of Statistical Genomics
Works in population genetics.
Poster
Fri Oct 23
2:30 pm
Genome-wide gene-alcohol interactions identify loci affecting blood pressure levels in over 1.1 million individuals from multiple populations
Complex Traits and Polygenic Disorders
Collaborators: University of Regensburg
BioinformaticsComplex diseasesGene environment interactionGenetic epidemiology

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