ASHG 2026 · Tier 1 Academic

Icahn School of Medicine at Mount Sinai at ASHG 2026

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

New York, New York

Icahn School of Medicine at Mount Sinai at ASHG 2026 in Montréal: 32 presentations (23 posters, 5 platform talks, 3 featured symposia); 20 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Icahn School of Medicine at Mount Sinai New York, New York	8 PhD Students · 7 Postdocs · 6 PIs · 3 Faculty
Kenny Laboratorylabs.icahn.mssm.edu/eimearkennylab/team Dry lab~7 people Develops computational methods for genomic, electronic health record, biobank and whole-genome sequencing data. Uses them for equitable risk prediction, rare-disease discovery and clinical genomic care. 65 papers since 2024 › Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants Science, 2025 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Source: OpenAlex author A5046822527 Funded by NHGRI, NHGRI +4 more › NHGRI, PRS Center for Admixed Populations & Health Equity · active “NHGRI U01 HG011715 (CAPE) – PRS Center for Admixed Populations & Health Equity (MPI)” NHGRI, Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems · active “NHGRI R01 HG011345 – Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems (MPI)” NHGRI, Population Architecture using Genomics and Epidemiology (PAGE III) · active “NHGRI R01 HG010297 (PAGE III) – Population Architecture using Genomics and Epidemiology (Co-I)” +3 more on the lab page Source: lab pages 10 platforms and techniques › Analyzes Whole-genome sequencing, Exome sequencing, Illumina MEGA / GSA / GDA arrays Techniques Population-structure modeling, Identity-by-descent mapping, Fine-scale ancestry inference, Polygenic risk scores, Admixture mapping, Deep phenotyping, Phenotype-driven diagnosis Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Polygenic risk identifies early-life LDL-C elevation and highlights treatment opportunities in a U.S. clinical population Complex Traits and Polygenic Disorders Collaborators: University of Alabama at Birmingham, University of Washington Medical Center +6 more Cardiovascular systemGenetic testingPolygenic risk scorePrecision medicine Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Cryptic founder structure empowers Mendelian disease discovery and diagnostic refinement in an EHR-linked biobank Mendelian Phenotypes Mendelian disorderLarge-scale biobanksPopulation structureBioinformatics Poster Fri Oct 23 2:30 pm The impact of genomic risk information on perceived risk is context dependent, and greater in individuals without prevalent disease Genetic Counseling, ELSI, and Education Collaborators: Columbia University, University of Alabama at Birmingham +7 more Genetic counselingPolygenic risk scorePrecision medicinePsychosocial issues Session Sat Oct 24 11:15 am Globalizing Human Genetics: From Discovery Through Implementation ★1 invited symposium speaker
Roussos Lablabs.icahn.mssm.edu/roussos-lab Wet + dry lab~53 people Generates single-nucleus RNA-seq, ATAC-seq, ChIP-seq and Hi-C data in human brain tissue. Studies schizophrenia, bipolar disorder and Alzheimer’s disease. 102 papers since 2024 › Genomics yields biological and phenotypic insights into bipolar disorder Nature, 2025 Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program Science, 2024 Single-cell genomics and regulatory networks for 388 human brains Science, 2024 Source: OpenAlex author A5074488210 Funded by National Institute on Aging, National Institute of Mental Health +12 more › National Institute of Health/Aging, R01AG082185 · 2023 – 2028 The NIH's standard multi-year research project grant. “2023 – 2028: R01AG082185, National Institute of Health/Aging (Roussos MPI)” National Institute on Aging, R01AG078657 · 2023 – 2027 The NIH's standard multi-year research project grant. “2023 – 2027: R01AG078657, National Institute on Aging (Roussos MPI)” National Institute of Mental Health, R01MH133703 · 2023 – 2026 The NIH's standard multi-year research project grant. “2023 – 2026: R01MH133703, National Institute of Mental Health (Roussos MPI)” +11 more on the lab page Source: lab pages 15 platforms and techniques › Works with single-nucleus RNA-seq, single-nucleus ATAC-seq, ATAC-seq, RNA-seq, ChIP-seq, Hi-C, whole-genome/exome sequencing, genome-wide SNP arrays Techniques single-cell molecular approaches, fluorescence activated nuclei sorting, GWAS and QTL colocalization, machine learning, iPSC-derived neurons, cortical organoids, human postmortem brain tissue Source: lab pages Currently hiring › “is available for Data Manager.” Source: lab positions page	Poster Wed Oct 21 2:30 pm A single-cell transcriptomic atlas of sex differences in the human brain Complex Traits and Polygenic Disorders Collaborators: Mental Illness Research, Education and Clinical Centers, James J. Peters VA Medical Center Alzheimer’s disease Talk Thu Oct 22 11:00 am Cell-type-resolved multiomic mapping of bipolar disorder risk in the human subgenual anterior cingulate cortex Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders Collaborators: California Institute of Technology Psychiatric geneticsMulti-omicsEpigeneticsDatabases Poster Fri Oct 23 2:30 pm Somatic mosaicism reveals distinct developmental and mutational landscapes in Schizophrenia and Bipolar Disorder Complex Traits and Polygenic Disorders BioinformaticsGenetic variationGenomicsMosaicism
Beckmann Lablabs.icahn.mssm.edu/beckmannlab/team Dry lab~8 people Analyzes multi-omics, RNA-seq, whole-genome sequencing, EHR and brain-imaging data with network models. Uses these data to study disease progression, mechanisms and therapeutic targets. 54 papers since 2024 › Sex Differences in Long COVID JAMA Network Open, 2025 Persistent complement dysregulation with signs of thromboinflammation in active Long Covid Science, 2024 2024 Update of the RECOVER-Adult Long COVID Research Index JAMA, 2024 Source: OpenAlex author A5077594919 11 platforms and techniques › Analyzes RNA-seq, Whole-genome sequencing, Array-based data, Electronic health records, Brain imaging Techniques Machine learning, Network modeling, Longitudinal disease-timeline modeling, Sample mislabeling correction, Technical-replicate modeling, iPSC model analysis Source: lab pages No funding stated · No openings posted	Poster Wed Oct 21 2:30 pm Genetics Factors Do Not Drive the Strongest Reproducible Blood-Brain Gene Expression Concordance Signals Molecular Effects of Genetic Variation Expression quantitative trait lociTranscriptomeBrain/nervous systemRNA-seq Poster Wed Oct 21 2:30 pm Genome-Wide Associations with Temporal Modeling of Alzheimer’s Disease Progression Supports a Novel Paradigm for Disease Risk Artificial Intelligence and Machine Learning Genome-wide association studyAlzheimer’s diseaseNeurodegenerationPolygenic risk score
Raj Laboratoryrajlab.org Wet + dry lab~20 people Works across genomics, bulk and single-cell RNA seq, proteomics and deep multi-omics profiling of immune cells. Studies Alzheimer’s, Parkinson’s disease and ALS. 52 papers since 2024 › Single-cell genomics and regulatory networks for 388 human brains Science, 2024 Single-cell multi-cohort dissection of the schizophrenia transcriptome Science, 2024 A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex Science, 2024 Source: OpenAlex author A5050747458 Funded by NIH, NINDS +3 more › PacBio, 2025 NYC Core Labs SMRT grant · 2025 “getting 2025 NYC Core labs SMRT grant from PacBio” NIH, R21 NIH Exploratory Grant · 2024 “helping us get an R21 NIH Exploratory Grant for the project “Genetic Determinants of TF Binding in Pooled Microglia”” Target ALS, foundation grant · 2024 “Jack received a large foundation grant from Target ALS to extend the spinal cord work” +2 more on the lab page Source: lab pages 9 platforms and techniques › Works with bulk RNA-seq, single-cell RNA-seq, proteomics, long-read RNA-seq Techniques computational genetics, iPSC technology, pluripotent stem cell models, chromatin accessibility and transcription-factor binding, fluid biomarker discovery Source: lab pages Currently hiring › “We're looking for postdoctoral fellows, data scientist and statistical geneticists” Source: lab positions page	Poster Fri Oct 23 2:30 pm Mapping genetic effects on myeloid transcription factor binding in Alzheimer's disease Epigenomics Collaborators: Columbia University, New York Genome Center Alzheimer’s diseaseBioinformaticsQuantitative traitTranscription factor Poster Fri Oct 23 2:30 pm A Meta-Analysis of Myeloid eQTLs Linking Genetic Risk to Brain Disorders Molecular Effects of Genetic Variation Collaborators: Sungkyunkwan University, Samsung Medical Center +1 more NeurodegenerationGenomicsExpression quantitative trait lociAlzheimer’s disease
Ron Laboratorylabs.icahn.mssm.edu/dolab/people Dry lab~11 people Uses machine learning on human genotyping, sequencing, functional, clinical and EHR-linked biobank data. Studies disease risk, gene discovery and therapeutic outcomes. 65 papers since 2024 › AHA PREVENT Equations and Cardiovascular Disease Risk in Diverse Health Care Populations Journal of the American College of Cardiology, 2025 Gene therapy and genome editing for lipoprotein disorders European Heart Journal, 2025 Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities Cell Metabolism, 2024 Source: OpenAlex author A5075343690 10 platforms and techniques › Analyzes Exome sequencing, Small RNA sequencing, Mount Sinai Data Warehouse Techniques Machine learning, Genome-wide association studies, Polygenic risk scores, Mendelian randomization, Rare variant association studies, Variant pathogenicity prediction, Population genetics Source: lab pages Currently hiring › “We are always looking for talented and enthusiastic individuals to join the lab.” Source: lab positions page No funding stated	Symposium Wed Oct 21 9:05 am Genetic prioritization frameworks to inform drug discovery and development Beyond GWAS: Translating Human Genetic into Therapeutic Targets and Clinical Development Poster Wed Oct 21 2:30 pm Large-scale validated gene discovery for ultra-rare coding variants in rare diseases using deep learning Artificial Intelligence and Machine Learning Artificial intelligenceRare variantsGenome-wide association studyPhenome-wide association
Huang Lab \| Precision Omicslabs.icahn.mssm.edu/kuanhuanglab/members Dry lab~7 people Develops statistical-genetics and machine-learning methods on biobank-scale genomic cohorts, DNA-Seq, proteomics and multi-omics data. Uses them to predict disease risk, treatment response and drug targets. 57 papers since 2024 › A clinical benchmark of public self-supervised pathology foundation models Nature Communications, 2025 Machine learning–based penetrance of genetic variants Science, 2025 Machine learning models identify predictive features of patient mortality across dementia types Communications Medicine, 2024 Source: OpenAlex author A5032718790 7 platforms and techniques › Analyzes DNA-Seq, Proteomics Techniques Statistical genetics, Machine learning/AI, Multi-omics integration, Rare and structural variant analysis, Reverse genetics screens Source: lab pages Currently hiring › ““We are recruiting instructors, postdoctoral scholars, or scientists with expertise in Statistical Genomics, Multi-Omics, and Machine Learning.”” Source: lab positions page No funding stated	Talk Wed Oct 21 1:39 pm Machine learning-based penetrance of genetic variants using metabolomics data Advancing Precision Oncology with AI, Functional Genomics, and Multi-Omics: From Risk Prediction to Tumor Evolution and Therapeutic Discovery Electronic health recordsGenetic variationLarge-scale biobanksMachine learning Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Machine learning-based penetrance of genetic variants using metabolomics data Artificial Intelligence and Machine Learning Electronic health recordsGenetic variationLarge-scale biobanksMachine learning
Asgari system immunology Lablabs.icahn.mssm.edu/samira-asgari-lab Dry lab~6 people Integrates bulk expression, DNA methylation, proteomics, single-cell expression and biobanks with computational models. Studies immune-disease risk using Mount Sinai, UK Biobank and All of Us. 16 papers since 2024 › Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden Arthritis & Rheumatology, 2025 High-dimensional phenotyping to define the genetic basis of cellular morphology Nature Communications, 2024 Paired analysis of host and pathogen genomes identifies determinants of human tuberculosis Nature Communications, 2024 Source: OpenAlex author A5084151026 Funded by NIH/NIGMS, Mount Sinai Institute for Liver Research +4 more › NIH/NIGMS, R35 · active “NIH/NIGMS R35, application R35GM160530” Mount Sinai Institute for Liver Research, Pilot Award · active “Mount Sinai Institute for Liver Research Pilot Award” VEXAS Foundation, philanthropic gift · active “VEXAS Foundationphilantropic gift” +3 more on the lab page Source: lab pages 11 platforms and techniques › Analyzes exome and genome sequencing, bulk expression, DNA methylation, proteomics, single-cell expression Techniques large-scale genetic association studies, somatic variant detection, colocalization, Mendelian randomization, viral exposure history profiling, ex vivo antiviral pathway activation Source: lab pages Currently hiring › “We actively seek talented people at all levels to join us.” Source: lab positions page	Moderator Thu Oct 22 1:30 pm Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Evidence for shared genetic architecture and widespread genetic correlation among infectious diseases Complex Traits and Polygenic Disorders Complex diseasesGenome-wide association studyImmune systemInfectious disease
Lowther Labthelowtherlab.com/team Dry lab~4 people Develops computational methods for structural variants using whole-genome sequencing and EHR-linked genetic data. Studies disease risk, developmental disorders and clinical variant interpretation. 5 platforms and techniques › Analyzes Whole-genome sequencing Techniques In silico mutagenesis screens, Predictive modeling, iPSC validation, Computational SV interpretation Source: lab pages Currently hiring › “We are always looking for motivated postdoctoral fellows to join our dynamic and growing human genetics and genomics lab.” Source: lab positions page No funding stated	Session Fri Oct 23 9:45 am Advocates in Action: ACGT Presentations and Networking Event Poster Fri Oct 23 2:30 pm Rare copy number variants affecting dosage sensitive loci are common in a multi-ancestry hospital-embedded biobank Laboratory Genetics and Genomics Collaborators: LAM Therapeutics Copy number/structural variationLarge-scale biobanksExome/genome sequencingPrecision medicine
Artificial Intelligence and Human Health Teamicahn.mssm.edu/about/artificial-intelligence/faculty Dry lab~36 people Applies AI to electronic health records, genomic sequencing and real-time clinical data streams. Supports diagnosis, drug discovery and personalized care across Mount Sinai Health System. Funded by Canadian Institutes of Health Research › Canadian Institutes of Health Research, Banting Fellowship · 2010 “Banting Fellowship” Source: lab pages 12 platforms and techniques › Works with Electronic health records linked to DNA samples, Whole-exome sequencing, Exome-chip genotyping, Mount Sinai Data Warehouse, Real-time streaming clinical data platform, Large supercomputers Techniques Machine learning and AI, PheWAS, Admixture analysis and PCA, Gene burden analysis, Natural language processing, Random Forest classification Source: lab pages Currently hiring › “we are seeking promising early to mid-career candidates” Source: lab positions page	Poster Thu Oct 22 4:15 pm Optimizing the use of longitudinal data in electronic health records for genome-wide association studies Statistical Genetics and Genetic Epidemiology Genome-wide association studyStatistical geneticsGenetic epidemiologyElectronic health records
Center for Artificial Intelligence in Child Healthicahn.mssm.edu/about/artificial-intelligence/research/ai-child-health-center Dry lab~8 people Analyzes pediatric electrocardiogram, cardiac CT and CMR data with AI. Targets child-health diagnostics and care delivery under Mindich Child Health and Development Institute. 127 papers since 2024 › Sociodemographic biases in medical decision making by large language models Nature Medicine, 2025 A foundation model for clinician-centered drug repurposing Nature Medicine, 2024 Large Language Models Are Poor Medical Coders — Benchmarking of Medical Code Querying NEJM AI, 2024 Source: OpenAlex author A5030539003 7 platforms and techniques › Analyzes electrocardiogram (ECG), cardiac CT, CMR Techniques artificial intelligence, machine learning, secure data pipelines, clinical informatics Source: lab pages No funding stated · No openings posted	Talk Thu Oct 22 2:00 pm Systematic evaluation of diagnostic delay in rare disease in an electronic health systems and the United States EHR-Based Computational and AI Approaches in Clinical Genetics Mendelian disorderPhenotypeLarge-scale biobanksEpidemiology
Davis Lablabs.icahn.mssm.edu/davislab/team Dry lab~14 people Analyzes genomic SNP, copy number variation, DNA/RNA sequencing, EHR and biobank phenotype data. Studies complex traits, substance-use disorders and sex differences with PsycheMERGE and PGC. 73 papers since 2024 › Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder Nature Genetics, 2024 Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference Nature Genetics, 2024 Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood Science, 2024 Source: OpenAlex author A5045051798 Funded by Sir Henry Wellcome, Vanderbilt Genomic Medicine Training Program +1 more › Mindich, Mindich grant · 2025 “Rachana for winning the Mindich grant to study DLD detection in the electronic health records” Vanderbilt Genomic Medicine Training Program · active “supported on the Vanderbilt Genomic Medicine Training Program” Sir Henry Wellcome, Postdoctoral Fellowship · four-year “supported by a four-year Sir Henry Wellcome Postdoctoral Fellowship” Source: lab pages 11 platforms and techniques › Analyzes Genomic SNP data, Copy number variation data, DNA sequencing, RNA sequencing, Electronic health record data, Biobank phenotypes Techniques Advanced statistical methods, Polygenic approaches, Genome-wide association analyses, Phenome-wide association studies, Machine-learning prediction Source: lab pages Currently hiring › “Current job opening: Postdoc” Source: lab positions page	Symposium Wed Oct 21 8:35 am Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record Genomics of Sex Differences and Reproductive State Across the Life Course: Context, Timing, and Biological Transitions
Gelb Lablabs.icahn.mssm.edu/gelblab/team Wet + dry lab~11 people Models RASopathies and heart defects with iPSCs; analyzes whole-exome, whole-genome, RNA-seq and DNA-methylation data. Studies congenital-heart-defect outcomes through the Pediatric Cardiac Genomics Consortium. 68 papers since 2024 › Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk Nature Genetics, 2025 Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease Nature Genetics, 2024 The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants The American Journal of Human Genetics, 2024 Source: OpenAlex author A5086328119 Funded by NHLBI › NHLBI, Pediatric Cardiac Genomics Consortium (PCGC) · active “The Gelb group is one of five main sites for the NHLBI-funded Pediatric Cardiac Genomics Consortium (PCGC).” Source: lab pages 11 platforms and techniques › Works with Human induced pluripotent stem cell (iPSC) technology, Drosophila RAF1 model, Whole-exome sequencing, Whole-genome sequencing, RNA-seq, DNA methylation studies Techniques Gene editing, Drug and chemical library screening, Drosophila disease modeling, CRIMIC technology, iPSC-derived cardiomyocyte models Source: lab pages No openings posted	Talk Thu Oct 22 8:15 am Largest GWAS meta-analysis across congenital heart disease phenotypes identifies phenotype-specific loci and novel developmental candidate genes Genetic Associations and Mechanisms in Cardiovascular Disease Collaborators: Child Health and Development Institute, Institute for Molecular Medicine Finland +8 more Genome-wide association studyCardiovascular systemComplex traitsDevelopment
Institute for Genomic Healthicahn.mssm.edu/research/institute-genomic-health Dry lab~14 people Uses health systems data, health systems based biobanks, and genetic, clinical, and lifestyle data. Applies genomic discovery to screening, risk prediction, and routine clinical care. 65 papers since 2024 › Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants Science, 2025 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Source: OpenAlex author A5046822527 Funded by National Heart, Blood, and Lung Institute, National Heart, Lung, and Blood Institute +1 more › National Heart, Blood, and Lung Institute, R21 grant · 2022 “awarded R21 grant funding from the National Heart, Blood, and Lung Institute” National Heart, Lung, and Blood Institute, R01 grant · 2022 The NIH's standard multi-year research project grant. “were awarded an R01 by the National Heart, Lung, and Blood Institute” Sinsheimer Scholar Award · 2022 “awarded a $150,000 two-year grant” Source: lab pages 6 platforms and techniques › Techniques population genetics, machine learning, functional genomics, clinical informatics, polygenic risk scores, genomic screening Source: lab pages No openings posted	Symposium Wed Oct 21 8:20 am DNA-based population screening (DNAPS) in adults – Building programs that prepare for the future and learn from the past Adult DNA-Based Population Genomic Screening: Moving from Pilots to Practice
molecular epidemiology Laboratoryprofiles.icahn.mssm.edu/jia-chen Wet + dry lab~6 people Analyzes gene expression, SNPs, methylation and microRNA data from population studies and placentas. Develops biomarkers for cancer, birth outcomes and child neurodevelopment. 180 papers since 2024 › Shock or empowerment? Artificial intelligence technology and corporate ESG performance Economic Analysis and Policy, 2024 Biodegradable piezoelectric polymer for cartilage remodeling Matter, 2024 Ground-Based Mobile Measurements to Track Urban Methane Emissions from Natural Gas in 12 Cities across Eight Countries Environmental Science & Technology, 2024 Source: OpenAlex author A5086814847 Funded by NIH, NIEHS › NIH, R01 · active The NIH's standard multi-year research project grant. “Her lab has recently been awarded an R01 from NIH to establish an atlas for human placenta.” NIEHS, Center on Health and Environment Across the LifeSpan (HEALS) · active “She is a member of the Mount Sinai Institute for Exposomic Research and its NIEHS-funded Center on Health and Environment Across the LifeSpan (HEALS).” Source: lab pages 9 platforms and techniques › Analyzes gene expression, SNPs, methylation, microRNAs Techniques placenta model system, animal and in vitro models, genetic and epigenetic profiling, bioinformatics, functional epi/genetic analyses Source: lab pages No openings posted	Talk Fri Oct 23 11:00 am Placental expression quantitative trait loci (eQTLs) shed light on the biology of the prenatal origins of anthropometric measurements and cardiometabolic complex traits. Genetics of Cardiometabolic Traits Collaborators: Environmental Health, University of the Basque Country DevelopmentExpression quantitative trait lociGenomicsIdentification of disease genes
O'Reilly Lablabs.icahn.mssm.edu/oreillylab Dry lab~8 people Develops statistical methods for GWAS and multi-omics-informed polygenic risk scores. Applies them to diverse populations and brain disorders. 5 papers since 2024 › tadesouaiaia/tails-paper: v2.2 Zenodo (CERN European Organization for Nuclear Research), 2026 tadesouaiaia/tails-paper: v1.2 Zenodo (CERN European Organization for Nuclear Research), 2026 tadesouaiaia/tails-paper: v1.3 Zenodo (CERN European Organization for Nuclear Research), 2026 Source: OpenAlex author A5130310268 7 platforms and techniques › Analyzes GWAS Techniques Polygenic risk scores, Pathway-specific PRS, Multi-trait GWAS, Admixture mapping, Bayesian predictive modelling, Functional genomics Source: lab pages Currently hiring › “to enquire about our open student and postdoc positions.” Source: lab positions page No funding stated	Poster Fri Oct 23 2:30 pm Investigating the impact of the genome-wide distribution of genetic effects on complex traits and disease risk Statistical Genetics and Genetic Epidemiology Complex traitsComputational toolsMathematical modelingPolygenic risk score
Turro Grouplabs.icahn.mssm.edu/turrolab Dry lab~5 people Develops statistical genomics methods for whole-genome, whole-exome, RNA-seq and biobank data. Applies them to rare diseases, neurodevelopmental disorders and platelet traits. 29 papers since 2024 › Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Nature Genetics, 2025 Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders Nature Medicine, 2024 Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Nature Genetics, 2024 Source: OpenAlex author A5010947173 Funded by Wellcome, NIH NHLBI +4 more › Wellcome · active “We are grateful to Wellcome, the NIH NHLBI, the NIH NICHD and the Lowy Foundation USA for providing extramural funding supporting our work.” NIH NHLBI · active “We are grateful to Wellcome, the NIH NHLBI, the NIH NICHD and the Lowy Foundation USA for providing extramural funding supporting our work.” NIH NICHD · active “We are grateful to Wellcome, the NIH NHLBI, the NIH NICHD and the Lowy Foundation USA for providing extramural funding supporting our work.” +3 more on the lab page Source: lab pages 7 platforms and techniques › Analyzes Whole-genome sequencing, Whole-exome sequencing, RNA-seq Techniques Rare-disease genetic association inference, Gene-expression and splicing modeling, Statistical integration of genetic and omics data, Platelet activation and clot-formation quantification Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Clinical spectrum, molecular mechanisms, and natural history of ReNU and ReNU2 syndromes, prevalent monogenic neurodevelopmental disorders caused by variants in RNU4-2 and RNU2-2 genes Laboratory Genetics and Genomics Genotype-phenotype correlationsNatural historyNeurodevelopmentalNon-coding RNA
Pinto Labpintolab.mssm.edu Wet + dry lab~8 people Integrates exome/WGS, short- and long-read RNA-seq, epigenetic and clinical data. Studies autism, epilepsy, schizophrenia and intellectual disability with Mount Sinai clinical teams. 31 papers since 2024 › Mapping the genetic landscape across 14 psychiatric disorders Nature, 2025 Single-cell genomics and regulatory networks for 388 human brains Science, 2024 Single-cell multi-cohort dissection of the schizophrenia transcriptome Science, 2024 Source: OpenAlex author A5088479227 Funded by National Institute of Mental Health › National Institute of Mental Health · active “NIMH-funded project” Source: lab pages 12 platforms and techniques › Works with Exome sequencing, Whole-genome sequencing, Short-read RNA-seq, Long-read RNA-seq, Full-length RNA sequencing, Single-cell RNA-seq Techniques CNV/SNV/indel discovery, Differential expression and splicing analysis, Isoform, co-expression and network analysis, iPSC-derived neural progenitor cells, Functional validation and cell culture, High-throughput targeted genetic screening Source: lab pages Currently hiring › “Postdoc positions available!” Source: lab positions page	Moderator Sat Oct 24 9:45 am Move Over SNPs: Structural Variants, Repeat Expansions, and More
Mindich Child Health and Development Institute Works in rare disease and population genetics.	Poster Thu Oct 22 4:15 pm Phenome-wide association study and mediation analysis of G6PD deficiency reveals cardiometabolic effects, including in female heterozygotes Mendelian Phenotypes Collaborators: Child Health and Development Institute Mendelian disorderPhenome-wide associationX-linked diseaseMetabolic disorder
Sharp Lab Works in population genetics.	Talk Sat Oct 24 10:30 am Phenome-wide association studies of short tandem repeats in the UK Biobank identify novel pathogenic repeat expansions and common repeat polymorphisms underlying diverse human traits Move Over SNPs: Structural Variants, Repeat Expansions, and More Copy number/structural variationGenetic variationGenome-wide association studyTriplet and other repeats
Windreich Department of Artificial Intelligence and Human Health Works in computational genetics.	Poster Fri Oct 23 2:30 pm RarePT-Based Phenotype Imputation for Prioritizing Individauls Harboring Rare Disease Variants for Clinical Follow-up Artificial Intelligence and Machine Learning Rare variantsPhenotypeDiagnosticsGenomics
5 more presenters — research group not yet identified

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