National Institutes of Health at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
National Institutes of Health brings 16 presentations from 15 research groups to ASHG 2026 in Montréal. Its program centres on rare disease diagnosis, population genomics, and computational methods at this meeting. Genomics of Early Growth and Cardio-Metabolic Health examines genetic effects on fetal growth, All of Us Research Program builds toward one million genomes, and Biostatistics & Computational Biology Branch studies HLA variation and psychiatric risk.
| Organization | ASHG 2026 Attendance |
|---|---|
National Institutes of Health Bethesda, Maryland | 4 Staff Scientists · 3 PIs · 2 Postdocs · 1 PhD Student |
Genomics of Early Growth and Cardio-Metabolic Healthannualreport.nichd.nih.gov/2024/tekola-ayele.html Analyzes genome-wide genotypes, placental methylation, placental gene expression, ultrasound and proteomics data. Studies fetal growth and cardio-metabolic outcomes in multi-ancestral pregnancy cohorts.
| Poster Wed Oct 21 2:30 pm Genetic contributions to early life growth progression GenomicsGenotype-phenotype correlationsStatistical geneticsSusceptibility locus Poster Thu Oct 22 4:15 pm Exploring the synchronicity of the maternal and fetal genetic effect in modulating birth weight Reproductive geneticsStatistical geneticsGenotype-phenotype correlationsDevelopment Session Fri Oct 23 1:30 pm |
All of Us Research Programallofus.nih.gov Offers a Researcher Workbench for survey, genomic, electronic health record, physical-measurement and wearable data. Supports precision medicine and more tailored care. | |
Biostatistics & Computational Biology Branchniehs.nih.gov/research/atniehs/labs/bcb/staff Develops statistical methods for whole-genome sequencing, epigenetic genotyping, metabolomics and environmental data. Supports environmental-health research across NIEHS, including the PEGS cohort.
| Poster Thu Oct 22 4:15 pm Human Leukocyte Antigen genetic variation and risk for psychiatric phenotypes Psychiatric geneticsPhenome-wide association |
Center for Alzheimer's and Related Dementias (CARD)nia.nih.gov/about/careers/center-alzheimers-and-related-dementias Generates iPSC models and long-read DNA sequencing data, and develops data-science tools for Alzheimer’s and related dementias. Collaborates with NINDS, ReDLat and UCSF’s Kampmann Lab.
| Poster Fri Oct 23 2:30 pm ASM-LR: A Phased QTL Mapping Framework for Detecting Allele-Specific Methylation Using Long-Read Sequencing Data Quantitative traitMethylationLong-read sequencingAlzheimer’s disease |
Childhood Complex Disease Genomics Section (CCDGS)irp.nih.gov/pi/neil-hanchard Uses long-read sequencing plus genomic, epigenomic and transcriptomic technologies with population and quantitative genetics. Studies childhood disease mechanisms in diverse populations, especially African ancestry.
| Poster Thu Oct 22 4:15 pm Ancestry-aware genetic architecture of a noninvasive dietary carotenoid biomarker Genome-wide association studyBioinformaticsEpidemiologyHeritability |
Data and Code Dissemination Working Groupgp2.org/working-groups/data-and-code-dissemination-working-group Shares GP2 cohort data and analytical code through AMP-PD. Supports open science while balancing participant privacy, regulations and data security.
| Poster Wed Oct 21 2:30 pm Genome-wide Discovery of GBA1 Modifiers in Parkinson's Disease Carriers across Populations from the Global Parkinson’s Genetics Program Complex diseasesPopulation geneticsNeurodegenerationTranslational studies and preclinical trials |
Epidemiology and Statistics Programnidcd.nih.gov/research/extramural Maintains resources including Add Health, NHIS and AudGenDB for population-based research. Covers communication disorders across hearing, balance, taste, smell, voice, speech and language.
| Poster Fri Oct 23 2:30 pm Genetic Insights into Tinnitus from a Population-Based GWAS: The National Longitudinal Study of Adolescent to Adult Health (Add Health) Complex traitsGenome-wide association study |
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 DNA Methylation Differences by SSA Serostatus in the Sjögren’s International Collaborative Clinical Alliance Autoimmune disorderEpigeneticsImmune systemMethylation |
NIH Intramural Center for Alzheimer's and Related Dementias (CARD)card.nih.gov Engineers iPSC cell models with CRISPR/Cas9 and analyzes genomic and proteomic data. Supports Alzheimer’s and related dementias research through public cell-line resources.
| Poster Fri Oct 23 2:30 pm Long-Read epigenetic clocks identify improved brain aging predictions MethylationLong-read sequencingBrain/nervous systemMachine learning |
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 Thu Oct 22 4:15 pm Identifying aberrant transcriptomic patterns in Undiagnosed Diseases Program (UDP) patients to enhance prioritization of candidate variants in rare disease diagnostics Alternative splicingDiagnosticsMulti-omicsRare variants |
Section on Molecular Dysmorphologynichd.nih.gov/research/atNICHD/Investigators/porter/personnel Studies cholesterol homeostasis and lysosomal dysfunction using iPSCs, zebrafish, mouse models and biomaterials. Develops therapies for SLOS, NPC1 and CLN3 through basic and clinical research.
| Talk Thu Oct 22 11:45 am CRISPRi functional genomics uncovers modifiers of neurodegeneration in Niemann-Pick disease, type C1 Genome editing/CRISPRBrain/nervous systemLaboratory genetics and genomicsExome/genome sequencing |
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.
| Session Thu Oct 22 10:00 am |
Neurogenomics Groupnia.nih.gov/research/card Works in population genetics and computational genetics.
| Poster Thu Oct 22 4:15 pm Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain Long-read sequencingNeurodegenerationExpression quantitative trait lociMethylation |
Poster Thu Oct 22 4:15 pm Describing the role of sex chromosomes in tumor heterogeneity with single-cell transcriptomics AneuploidyCancerChromosomal deletionsSingle-cell | |
Gahl Lab Works in rare disease and clinical genetics. | Talk Fri Oct 23 11:45 am A tiered functional evidence framework for rare disease diagnosis in the NIH Undiagnosed Diseases Program Alternative splicingDiagnosticsGenetic variationLysosomal diseases |
| 1 more presenter — research group not yet identified | |
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