ASHG 2026 · Gov/NGO
National Human Genome Research Institute at ASHG 2026
Bethesda, Maryland
National Human Genome Research Institute at ASHG 2026 in Montréal: 38 presentations (31 posters, 4 featured symposia, 2 platform talks); 22 research groups; Booth 208.
38
presentations on the program
22
research groups identified
2
sessions invited to or moderated
1
Reviewers’ Choice abstracts
| Organization | ASHG 2026 Attendance |
|---|---|
National Human Genome Research Institute Bethesda, Maryland | 10 Staff Scientists · 7 PIs · 5 Postdocs · 2 PhD Students |
Booth Exhibiting at Booth 208 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Genomics of Autoimmune Rheumatic Disease Sectiongenome.gov/… Studies genetic ancestry, whole-blood DNA methylation and single-cell RNA-seq in SLE. Uses patient cohorts and multi-omics to study disease heterogeneity and health disparities.
| Poster Thu Oct 22 4:15 pm The architecture of haplotype-resolved X chromosome methylation in B and T cells in systemic lupus erythematosus Autoimmune disorderLong-read sequencingMethylation Poster Fri Oct 23 2:30 pm Clonal Hematopoiesis of Indeterminate Potential (CHIP) somatic mutations are associated with late age of onset and epigenetic remodeling in systemic lupus erythematosus (SLE) Autoimmune disorderEpigenome-wide association studiesMethylationMosaicism Poster Fri Oct 23 2:30 pm DNA methylation profiles are associated with geographically distinct immune-related signatures in systemic lupus erythematosus patients from Peru and the United States Autoimmune disorderGenomicsPopulation geneticsMethylation |
NIH Undiagnosed Diseases Program (UDP)genome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program Uses family genome sequencing, SNP-array testing, methylation testing and RNA-sequencing to investigate undiagnosed disease. Advances rare disease diagnostics and medical knowledge about rare and common diseases.
| Poster Wed Oct 21 2:30 pm From variant discovery to functional characterization: a novel homozygous SULT1B1 missense variant underlies peripheral thyroid hormone dysregulation in a rare undiagnosed disease Rare variantsMendelian disorderEndocrine systemAutoimmune disorder Poster Wed Oct 21 2:30 pm Patterns of Undiagnosed Diseases over 18 Years DiagnosticsGenomicsClinical geneticsClinical testing Poster Fri Oct 23 2:30 pm Structural variants in SETX contribute to the long diagnostic odyssey of individuals with spinocerebellar ataxia with axonal neuropathy 2 AtaxiaCopy number/structural variationLong-read sequencingMendelian disorder |
Childhood Complex Disease Genomics Sectiongenome.gov/… Uses whole genome sequencing, genomics, epigenomics and transcriptomics with well-phenotyped cohorts. Studies childhood diseases with global collaborators through CAfGEN and H3Africa.
| Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm IL12B transcription at the 5q33 candidate locus is induced by immune stimulation and localizes to B cell subtypes in a tissue-specific manner BioinformaticsExpression quantitative trait lociSingle-cellRNA-seq |
Center for Genomics and Data Science Researchgenome.gov/about-nhgri/Division-of-Intramural-Research/Center-for-Genomics-and-Data-Science-Research Analyzes long-read sequencing and whole-genome data, and runs CRISPR, oligo synthesis and yeast genetics. Studies genome function, variation and disease.
| Poster Wed Oct 21 2:30 pm Sex differences in placental gene expression and intraplacental variation in normotensive versus hypertensive pregnancies Reproductive geneticsRNA-seqTranscriptomeX-linked disease Poster Fri Oct 23 2:30 pm Reproducible autosomal gene expression changes with loss of typical X and Y complement across tumor types CancerBioinformaticsGenomicsTranscription |
Center for Research on Genomics and Global Healthgenome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
| Poster Wed Oct 21 2:30 pm Gene–Smoking Interaction Analysis Link SKAP2-Associated Immune Regulatory Pathways to Central Adiposity–Related Mortality Risk Expression quantitative trait lociGene environment interactionGenome-wide association studyObesity Poster Fri Oct 23 2:30 pm Single Nucleus RNA Sequencing of an Aldh7a1 Knockout Mouse Model Reveals Cell-Specific Effects on Energy Metabolism and Glucose Homeostasis Pathways Complex diseasesDiabetesObesitySingle-cell |
Extramural Research Program (ERP)genome.gov/about-nhgri/Organizational-chart Funds and manages programs involving genome sequencing and analytical approaches. Supports universities, research institutes and commercial entities.
| Poster Wed Oct 21 2:30 pm Evaluating the feasibility of genome-wide iPSC-based null allele phenotyping: funding trajectory, organizational structure, and early impact of the MorPhiC consortium Genome editing/CRISPRDatabasesStem cellPolicy issues Poster Wed Oct 21 2:30 pm The IGVF Consortium: Public Resources to inform Genomic Variant Analysis DatabasesGenetic variation |
Organic Acid Research Sectiongenome.gov/… Studies methylmalonic acidemia with AAV vectors, 13C isotopomer metabolism, mouse and zebrafish models, and patient cohorts. Develops gene therapies and evaluates renal and neurologic disease.
| Poster Wed Oct 21 2:30 pm Long-term morbidity and mortality following solid organ transplantation in mmut-methylmalonic acidemia Natural historyMetabolic disorderGenotype-phenotype correlationsBiochemical pathology Poster Fri Oct 23 2:30 pm Exploring the role of MCEE function in intermediary metabolism using zebrafish models Cellular metabolismComplex diseasesDevelopmentMetabolic disorder |
Venditti Labirp.nih.gov/pi/charles-venditti Runs patient natural-history studies, mouse and zebrafish models, AAV gene therapy, RNA profiling and 13C isotopomer metabolism. Focuses on methylmalonic acidemia and cobalamin disorders.
| Poster Thu Oct 22 4:15 pm Natural History Study Reveals Putative Biochemical-Clinical Correlations in Adenylosuccinate Lyase Deficiency Biochemical pathologyMetabolic disorder Poster Fri Oct 23 2:30 pm Exploring the methylmalonylome in neuronal and renal tissue in methylmalonic acidemia Biochemical pathologyMetabolic disorderMolecular pathophysiology |
Center for Research on Genomics and Global Health (CRGGH)genome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
| Talk Wed Oct 21 1:30 pm G6PD deficiency and sickle cell trait have different impacts on HbA1c screening for abnormal glucose tolerance and monitoring diabetes treatment in continental Africans DiabetesPublic healthPrecision medicineGenetic epidemiology Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice G6PD Deficiency and Sickle Cell Trait Have Different Impacts on HbA1c Screening for Abnormal Glucose Tolerance and Monitoring Diabetes Treatment in Continental AfricansClinical testingDiabetesGenetic epidemiologyPrecision medicine |
Office of the Directorgenome.gov/about-nhgri/Office-of-the-Director Oversees genomic data science and coordinates genomic research for NIH. Provides NHGRI leadership, policy, administration, and management strategy.
| Symposium Wed Oct 21 8:15 am Symposium Wed Oct 21 9:40 am Session Thu Oct 22 10:00 am |
Division of Genomics and Societygenome.gov/about-nhgri/Division-of-Genomics-and-Society Coordinates multidisciplinary ELSI research and training on genetic and genomic research. Addresses societal issues with individuals, families and communities.
| Poster Wed Oct 21 2:30 pm Connecting with NHGRI’s Ethical, Legal, and Social Implications (ELSI) research program Ethical, legal, and social implicationsGenomics Session Thu Oct 22 10:00 am |
Center for Precision Health Researchgenome.gov/Current-NHGRI-Clinical-Studies/Genomic-Services-Research-Program Develops genomic and informatic tools using UK Biobank, genotype/phenotype databases and electronic healthcare datasets. Supports rare-disease care, genetic-disorder trials and NIH Clinical Center studies.
| Poster Thu Oct 22 4:15 pm Piloting the v4 ACMG/AMP/ClinGen pathogenicity criteria on RYR1-MHS variant classification: Impact of weighting population data, case information and segregation Laboratory genetics and genomicsPharmacogenomicsPrecision medicineVariant interpretation |
Genomic Functional Analysis Sectiongenome.gov/… Analyzes Illumina DNA methylation arrays plus transcriptomic and chromatin data to study gene regulation in cancer and genetic disease. Develops blood-based cancer biomarkers.
| Poster Fri Oct 23 2:30 pm Building a staged cell-free DNA methylation and fragmentomics workflow for cancer screening and tumor tissue-of-origin prediction using EM-seq datasets CancerEpigeneticsMachine learningMethylation |
Metabolic Medicine Branchgenome.gov/research-at-nhgri/Investigators Runs AAV-vector, mouse, zebrafish, organoid and stem-cell studies alongside clinical metabolic research. Develops treatments for organic acidemias, mitochondrial disorders and skeletal dysplasias.
| Talk Sat Oct 24 8:15 am AAV gene addition therapy for MMACHC-related combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC) Metabolic disorderTransgenic modelGene therapy |
Reproductive Cancer Genetics Sectiongenome.gov/… Studies endometrial-tumor exomes and somatic mutations identified by next-generation sequencing. Functionally evaluates driver genes in clinically aggressive endometrial cancer.
| Poster Fri Oct 23 2:30 pm Permanent neurological sequelae associated with fluoroquinolone exposure: A case series PharmacogenomicsCharacterization of disordersGene environment interactionClinical history |
Division of Genome Sciencesgenome.gov/about-nhgri/Division-of-Genome-Sciences Supports genomic technology, RNA-seq and ChIP-seq programs. Builds shared resources for gene regulation, developmental expression and genomic variation.
| Session Thu Oct 22 10:00 am |
Division of Genomic Medicinegenome.gov/about-nhgri/Division-of-Genomic-Medicine Plans and facilitates multidisciplinary genomic-medicine research through grants, training grants and contracts. Advances genomic data use in diagnosis, treatment and prevention of disease.
| Session Thu Oct 22 10:00 am |
Precision Health Informatics Section Works in rare disease and population genetics. | Talk Thu Oct 22 1:30 pm Thiazide Diuretics Are Associated with Reduced Risk of Incident Dementia: A Phenomic-Genomic Study in All of Us, Mount Sinai Million, and UK Biobank Alzheimer’s diseaseCardiovascular systemLarge-scale biobanksPharmacogenomics Poster Thu Oct 22 4:15 pm Phenome and genome-guided discovery of Mendelian contributors to treatment-resistant hypertension in All of Us Clinical geneticsComplex traitsElectronic health recordsLarge-scale biobanks |
Comparative Genomics and Reproductive Health Section Works in computational genetics. | Poster Wed Oct 21 2:30 pm Chromosome level assemblies define the utility and limits of short read Y chromosome analyses Variant callingMethodologyCopy number/structural variationChromosomal structure/function |
Inflammatory Disease Section Works in computational genetics and clinical genetics. | Poster Wed Oct 21 2:30 pm Increased myeloid clonal hematopoiesis in Systemic Lupus Erythematosus Autoimmune disorderExome/genome sequencingMosaicismSomatic variants |
Precision Genomics Section Works in rare disease and clinical genetics. | Poster Thu Oct 22 4:15 pm Comparative functional analysis of AKT1 D323N and Proteus syndrome-associated AKT1 E17K variant reveals prolonged AKT1 signaling and delayed pathway attenuation by the AKT1 D323N variant Clinical geneticsGenomicsMosaicismPrecision medicine |
Undiagnosed Diseases Program Works in rare disease. | Poster Thu Oct 22 4:15 pm Biallelic pathogenic POLR3A variants in an adult proband with juvenile-onset progressive sensory ataxia mimicking Friedreich ataxia Alternative splicingAtaxiaGenotype-phenotype correlationsMendelian disorder |
| 4 more presenters — research group not yet identified | |
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