ASHG 2026 · Gov/NGO

National Institutes of Health at ASHG 2026

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

Bethesda, Maryland

National Institutes of Health at ASHG 2026 in Montréal: 19 presentations (15 posters, 2 featured symposia, 2 platform talks); 16 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
National Institutes of Health Bethesda, Maryland	5 Staff Scientists · 3 PIs · 2 Postdocs · 1 PhD Student
Genomics of Early Growth and Cardio-Metabolic Healthannualreport.nichd.nih.gov/2024/tekola-ayele.html Dry lab~5 people 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. 4 papers since 2024 › Association of prenatal glycemic marker cumulative exposure with placental DNA methylation change The Journal of Clinical Endocrinology & Metabolism, 2026 Placental epigenetic clocks derived from crowdsourcing: Implications for the study of accelerated aging in obstetrics iScience, 2026 Multiethnic growth standards for fetal body composition and organ volumes derived from 3D ultrasonography American Journal of Obstetrics and Gynecology, 2024 Source: OpenAlex author A5113239193 Funded by Undergraduate Scholarship Program, NICHD › Undergraduate Scholarship Program · active “Undergraduate Scholarship Program awarded to Shila Deljookorani” NICHD, Director’s Strategic Planning grant · active “NICHD Director’s Strategic Planning grant to [name]” Source: lab pages 11 platforms and techniques › Analyzes Genome-wide genotypes, Placental methylation, Placental gene expression, Fetal biometry ultrasound, Glucose, HbA1c and insulin assays Techniques Genome-wide association studies, Meta-regression, Admixture mapping, Epigenetic clocks, Multi-omics integration, Polygenic risk scores Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Genetic contributions to early life growth progression Prenatal, Perinatal, Reproductive, and Developmental Genetics 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 Prenatal, Perinatal, Reproductive, and Developmental Genetics Reproductive geneticsStatistical geneticsGenotype-phenotype correlationsDevelopment Moderator Fri Oct 23 1:30 pm MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases
All of Us Research Programallofus.nih.gov Dry lab Offers a Researcher Workbench for survey, genomic, electronic health record, physical-measurement and wearable data. Supports precision medicine and more tailored care. Funded by National Institutes of Health › National Institutes of Health · active “Sponsor: National Institutes of Health” Source: lab pages 2 platforms and techniques › Analyzes Researcher Workbench Techniques artificial intelligence (AI) Source: lab pages No openings posted	Symposium Wed Oct 21 8:15 am Introduction The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine Symposium Wed Oct 21 8:20 am Building to 1 million genomes and more: How All of Us grew to the largest, most diverse public -omics resource and where it is going next The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine
Biostatistics & Computational Biology Branchniehs.nih.gov/research/atniehs/labs/bcb/staff Dry lab~31 people Develops statistical methods for whole-genome sequencing, epigenetic genotyping, metabolomics and environmental data. Supports environmental-health research across NIEHS, including the PEGS cohort. 2 papers since 2024 › Personalized Environment and Genes Study (PEGS) Dataset-a resource for genomic, exposomic, and geospatial data Scientific Data, 2026 1333-P: A Mutation Causing Glucose-6-Phosphate Dehydrogenase Deficiency Increases the Risk of Diabetes Complications in Men with African Ancestry Diabetes, 2024 Source: OpenAlex author A5085696377 Funded by Chan Zuckerberg Initiative, Susan G. Komen for the Cure › Chan Zuckerberg Initiative, Human Cell Atlas project · active Philanthropic science funding from the Chan Zuckerberg Initiative. “He was recently awarded two grants from the Chan Zuckerberg Initiative (CZI) through the Human Cell Atlas project.” Susan G. Komen for the Cure, Two Sister Study “Weinberg and colleagues have also carried out a family-based study, called the Two Sister Study, with funding from Susan G. Komen for the Cure.” Source: lab pages 16 platforms and techniques › Analyzes whole-genome sequencing, epigenetic genotyping, single-cell CyTOF drug perturbation data, spatial sequencing, sc RNA-seq, 16S microbiome data, metagenomics microbiome data, ChIP-seq Techniques boosted tree models, evolutionary algorithms, gene-environment interaction analysis, deep learning, multi-scale modeling, digital twin models, constrained statistical inference, environmental mixture analysis Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Human Leukocyte Antigen genetic variation and risk for psychiatric phenotypes Complex Traits and Polygenic Disorders Collaborators: King's College London Psychiatric geneticsPhenome-wide association
Center for Alzheimer's and Related Dementias (CARD)nia.nih.gov/about/careers/center-alzheimers-and-related-dementias Wet + dry lab 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. Funded by National Institute on Aging (NIA) › National Institute on Aging (NIA), Intramural Research Program (IRP) · active “NIA’s IRP is comprised of eight scientific laboratories and the Roy Blunt Center for Alzheimer's and Related Dementias (CARD).” Source: lab pages 11 platforms and techniques › Works with Long-read DNA sequencing, iPSC genome engineering, Automated proteomics pipeline, GenoML, Genome sequencing Techniques Functional genomics, iPSC genome engineering, Brain organoids, Proteogenomics, Automated machine learning, Long-read sequencing Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm ASM-LR: A Phased QTL Mapping Framework for Detecting Allele-Specific Methylation Using Long-Read Sequencing Data Statistical Genetics and Genetic Epidemiology Collaborators: National Institute on Aging Quantitative traitMethylationLong-read sequencingAlzheimer’s disease
Childhood Complex Disease Genomics Section (CCDGS)irp.nih.gov/pi/neil-hanchard Wet + dry lab~15 people 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. 22 papers since 2024 › An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Genome Medicine, 2025 Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Nature Communications, 2025 Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations Bioinformatics, 2024 Source: OpenAlex author A5064153770 Funded by NIH, Wellcome Trust +1 more › NIH, H3Africa · active “Funded by NIH, the United Kingdom-based Wellcome Trust charitable foundation, and the African Academy of Sciences” Wellcome Trust, H3Africa · active “Funded by NIH, the United Kingdom-based Wellcome Trust charitable foundation, and the African Academy of Sciences” African Academy of Sciences, H3Africa · active “Funded by NIH, the United Kingdom-based Wellcome Trust charitable foundation, and the African Academy of Sciences” Source: lab pages 9 platforms and techniques › Works with long-read sequencing, Biowulf supercomputer Techniques human genetics, epigenomics, transcriptomics, population genetics, quantitative genetics, cell models, DNA methylation Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Ancestry-aware genetic architecture of a noninvasive dietary carotenoid biomarker Statistical Genetics and Genetic Epidemiology Collaborators: National Human Genome Research Institute, Makerere University +1 more Genome-wide association studyBioinformaticsEpidemiologyHeritability
Data and Code Dissemination Working Groupgp2.org/working-groups/data-and-code-dissemination-working-group Dry lab~10 people Shares GP2 cohort data and analytical code through AMP-PD. Supports open science while balancing participant privacy, regulations and data security. 3 platforms and techniques › Analyzes AMP-PD Techniques Analytical pipeline review, Machine learning Source: lab pages No funding stated · No openings posted	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 Molecular Effects of Genetic Variation Collaborators: University of Lübeck Complex diseasesPopulation geneticsNeurodegenerationTranslational studies and preclinical trials
Epidemiology and Statistics Programnidcd.nih.gov/research/extramural Dry lab~5 people Maintains resources including Add Health, NHIS and AudGenDB for population-based research. Covers communication disorders across hearing, balance, taste, smell, voice, speech and language. Funded by NIDCD › NIDCD, Extramural Research · active “The NIDCD's extramural program funds research and training opportunities” Source: lab pages 4 platforms and techniques › Techniques epidemiologic studies, population-based research, community-based health surveys, trend analysis Source: lab pages No openings posted	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) Statistical Genetics and Genetic Epidemiology Collaborators: Johns Hopkins University Complex traitsGenome-wide association study
Genomics of Autoimmune Rheumatic Disease Sectiongenome.gov/… Dry lab~9 people 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. 14 papers since 2024 › Epigenetic attenuation of interferon signaling is associated with aging-related improvements in systemic lupus erythematosus Science Translational Medicine, 2025 The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research Nature Medicine, 2024 Changes in DNA methylation are associated with systemic lupus erythematosus flare remission and clinical subtypes Clinical Epigenetics, 2024 Source: OpenAlex author A5082388906 Funded by Office of Autoimmune Disease Research, Office of Research on Women’s Health, NIH, NIH › Office of Autoimmune Disease Research, Office of Research on Women’s Health, NIH, Intramural Collaborative Research Awards · 2025 “Meet the Recipients of the 2025 Office of Autoimmune Disease Research Intramural Collaborative Research Awards” NIH, Diversity supplement R01 · 2020 The NIH's standard multi-year research project grant. “Dr Lanata received the NIH Diversity supplement R01 award (2020)” Source: lab pages 7 platforms and techniques › Analyzes Whole-blood DNA methylation, Single-cell RNA-seq Techniques Population genomics, Integrative multi-omics, Genome-wide association studies, Epigenome-wide association studies, Transcriptomic analysis Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm DNA Methylation Differences by SSA Serostatus in the Sjögren’s International Collaborative Clinical Alliance Epigenomics Collaborators: National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases +3 more Autoimmune disorderEpigeneticsImmune systemMethylation
Institute of Human Genetics (IHG)nih.upm.edu.ph/institute/ihg Wet lab Provides cytogenetics, molecular genetics, tandem mass spectrometry and microarray testing for Filipino genetic disorders. Supports diagnosis, newborn screening and research on common and inherited diseases. 13 papers since 2024 › Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome Case Reports in Genetics, 2025 Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 International Journal of Neonatal Screening, 2024 Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of Networks Genes, 2024 Source: OpenAlex author A5033139991 15 platforms and techniques › Runs Fluorescence in situ hybridization (FISH), Tandem mass spectrometry (FIA-MS/MS), Gas chromatography-mass spectrometry (GC-MS), Ultra high performance liquid chromatography (UPLC), Alpha Globin Multiplex PCR, HbCS Targeted Sequencing, Microarray Whole-Genome Genotyping, Microarray Methylation Assay Techniques Chromosome analysis, High-resolution banding, C-banding, DNA extraction, PBMC isolation, RNA purification, DNA biobanking Source: lab pages No funding stated · No openings posted	Poster Wed Oct 21 2:30 pm Cytogenetic Profile of Edwards Syndrome: A 30-Year Retrospective Analysis from a Philippine Referral Laboratory (1991–2020) Cancer Collaborators: University of the Philippines Manila, Philippine General Hospital Clinical geneticsChromosomal abnormalitiesAneuploidy
Laboratory of Neurogeneticsniaaa.nih.gov/research/division-intramural-clinical-and-biological-research/lng-section-human Wet + dry lab~17 people Studies human genetics using massively parallel sequencing, array and capillary-electrophoresis genotyping, clinical datasets and transcriptome analyses. Focuses on alcoholism, addiction and related psychiatric disorders. 42 papers since 2024 › Mapping the genetic landscape across 14 psychiatric disorders Nature, 2025 Hepatology consultation is associated with decreased early return to alcohol use after discharge from an inpatient alcohol use disorder treatment program Hepatology Communications, 2024 Associations of history of alcohol use disorder with loneliness, social support, and mental health during the COVID-19 pandemic Psychiatry Research, 2024 Source: OpenAlex author A5041766549 10 platforms and techniques › Runs Massively parallel sequencing, Array-based genotyping, Capillary electrophoresis-based genotyping Techniques Human research protocols, In vitro functional analyses, In vivo functional analyses, Genome-wide association studies, Genome-wide epigenetic analyses, Transcriptome analyses, Genome informatics Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm Recurrent Copy Number Variants in Native American Populations Are Potential Risk Loci for Psychiatric Disorders Genetic, Genomic, and Epigenomic Resources and Databases BehaviorCopy number/structural variationGenotype-phenotype correlationsRare variants
NIH Intramural Center for Alzheimer's and Related Dementias (CARD)card.nih.gov Wet + dry lab 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. 6 platforms and techniques › Works with iPSC cell-line repository, FAIMS-DIA mass spectrometry Techniques CRISPR/Cas9-based genetic engineering, Automated parallel cell culture, iPSC-derived brain cell models, Genomic and proteomic studies Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm Long-Read epigenetic clocks identify improved brain aging predictions Epigenomics Collaborators: University of Cambridge, University College London +1 more MethylationLong-read sequencingBrain/nervous systemMachine learning
NIH Undiagnosed Diseases Program (UDP)genome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program Wet + dry lab~35 people 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. 62 papers since 2024 › Rare diseases: challenges and opportunities for research and public health Nature Reviews Disease Primers, 2024 Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Science Translational Medicine, 2024 Source: OpenAlex author A5082442398 Funded by NIH Common Fund, Multiple NIH Institutes and Centers › Multiple NIH Institutes and Centers, UDN Phase III · active “will continue to receive support and oversight from multiple NIH Institutes and Centers” NIH Common Fund, Undiagnosed Diseases Network · 2013-2022 “The UDN was funded by the NIH Common Fund from 2013-2022.” Source: lab pages 8 platforms and techniques › Runs Family genome sequencing, SNP-array testing, Methylation testing, RNA-sequencing Techniques Patient phenotyping, Genomic variant analysis pipelines, Functional evidence for variant causality, Rare-disease data sharing Source: lab pages No openings posted	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 Omics Technologies Collaborators: National Human Genome Research Institute Alternative splicingDiagnosticsMulti-omicsRare variants
Section on Molecular Dysmorphologynichd.nih.gov/research/atNICHD/Investigators/porter/personnel Wet lab~7 people 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. 25 papers since 2024 › Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells Annals of Biomedical Engineering, 2025 Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1 Journal of Lipid Research, 2024 Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1 International Journal of Molecular Sciences, 2024 Source: OpenAlex author A5043346952 Funded by NIH Clinical Center, Ara Parseghian Medical Research Foundation +3 more › NIH Clinical Center, Bench-to-Bedside awards “This work has been supported by NIH Clinical Center Bench-to-Bedside awards” Ara Parseghian Medical Research Foundation “the Ara Parseghian Medical Research Foundation and Dana’s Angels Research Trust” Dana’s Angels Research Trust “the Ara Parseghian Medical Research Foundation and Dana’s Angels Research Trust” +2 more on the lab page Source: lab pages 11 platforms and techniques › Runs i3neuron platform, High-throughput drug screens, Adeno-associated vector system Techniques Induced pluripotent stem cells, Zebrafish models, Mouse models, Neuronal cell lines, High-throughput chemical and genetic screens, Gene therapy, Biomarker identification and validation, Natural history trials Source: lab pages No openings posted	Talk Thu Oct 22 11:45 am CRISPRi functional genomics uncovers modifiers of neurodegeneration in Niemann-Pick disease, type C1 Uptown Funk(tion): Don’t Believe Me, Just Perturb Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development Genome editing/CRISPRBrain/nervous systemLaboratory genetics and genomicsExome/genome sequencing
Neurogenomics Groupnia.nih.gov/research/card Works in population genetics and computational genetics. 35 papers since 2024 › NeuroBooster Array: A Genome‐Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations Movement Disorders, 2024 Profiling complex repeat expansions in RFC1 in Parkinson’s disease npj Parkinson s Disease, 2024 Haplotype-Resolved Long-Read Sequencing in Hundreds of Diverse Brains Identifies Structural Variant Impacts on Expression and Allele-Specific Methylation bioRxiv (Cold Spring Harbor Laboratory), 2024 Source: OpenAlex author A5004869403	Poster Thu Oct 22 4:15 pm Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain Molecular Effects of Genetic Variation Collaborators: Université de Montréal, Baylor College of Medicine +6 more Long-read sequencingNeurodegenerationExpression quantitative trait lociMethylation
Plaisier Labfaculty.engineering.asu.edu/plaisier/people Works in cancer genetics.	Poster Thu Oct 22 4:15 pm Describing the role of sex chromosomes in tumor heterogeneity with single-cell transcriptomics Cancer 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 Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches Alternative splicingDiagnosticsGenetic variationLysosomal diseases
1 more presenter — research group not yet identified

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