ASHG 2026 · Tier 1 Academic

Northwestern University at ASHG 2026

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

Evanston, Illinois

Northwestern University at ASHG 2026 in Montréal: 11 presentations (8 posters, 2 featured symposia, 1 lightning talk); 9 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
Northwestern University Evanston, Illinois	6 PIs · 4 PhD Students · 1 Staff Scientist · 1 Undergrad
HEART-GeN Labkrotosbenjamin.github.io/about-heart-gen Wet + dry lab~12 people Analyzes postmortem brain, bulk RNA-seq and snRNA-sequencing data with computational tools and human organoid/iPSC models. Studies genetic ancestry in neurological disorders. 13 papers since 2024 › Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry Nature Neuroscience, 2024 Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus Nature Communications, 2024 Human archetypal pluripotent stem cells differentiate into trophoblast stem cells via endogenous BMP5/7 induction without transitioning through naive state Scientific Reports, 2024 Source: OpenAlex author A5022973669 Funded by NIH/NIMHD, Alzheimer’s Association +3 more › Alzheimer’s Association, MOSAIC · 09/01/2025-08/31/2028 “Grant: 25AARG-1413315; Funding Source: Alzheimer’s Association; Date(s): 09/01/2025-08/31/2028” NIH/NIMHD, K99/R00 · 12/01/2021-03/31/2027 “Grant: K99/R00 MD0169640; Funding Source: NIH/NIMHD; Date(s): 12/01/2021-03/31/2027” Brain & Behavior Research Foundation, Young Investigator Award · Pending (07/15/2026-06/15/2028) “Grant: Young Investigator Award; Funding Source: Brain & Behavior Research Foundation (BBRF); Date(s): Pending” +2 more on the lab page Source: lab pages 10 platforms and techniques › Analyzes bulk RNA-seq, snRNA-sequencing, DNA methylation (DNAm) Techniques human organoids, iPSC-derived glial and vascular cells, local-ancestry-aware xQTL mapping, differential expression analysis, machine learning and deep learning, elastic net regression with boosting, isoform switching Source: lab pages Currently hiring › “Open position: bioinformatics (snRNA-sequencing experience)” Source: lab positions page	Session Tue Oct 20 10:00 am Modeling Choices in Omics: Implications for Health Disparities in Human Genetics Talk Wed Oct 21 1:47 pm SNP-based heritability distinguishes genetically anchored and environmentally patterned methylation variation in the Black American postmortem brain Genetic Variation: From Catalogs to Consequences Collaborators: KG College of Arts and Science, Spelman College HeritabilityMethylationNeurogeneticsGene regulation Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice SNP-based heritability distinguishes genetically anchored and environmentally patterned methylation variation in the Black American postmortem brain Epigenomics Collaborators: KG College of Arts and Science, Spelman College Gene regulationHeritabilityMethylationNeurogenetics Poster Thu Oct 22 4:15 pm Ancestry-Aware Environmentally Driven Epigenetic Associations for Neurological Diseases Complex Traits and Polygenic Disorders Collaborators: KG College of Arts and Science MethylationEpigeneticsNeurogeneticsGene environment interaction
Guemez-Gamboa Labsites.northwestern.edu/guemezgamboalab/contact-us Wet lab Studies neural circuit assembly using human genetics, next-generation sequencing, iPSCs, CRISPR-edited lines and forebrain organoids. Models neurodevelopmental disorders for therapeutic strategies and personalized medicine. Funded by NIH, NIH +1 more › NIH, NINDS R01 · active The NIH's standard multi-year research project grant. “Results from our current projects (funded by NIH NINDS R01)” PACS1 Syndrome Research Foundation · active “our biomarker discovery efforts (funded by the PACS1 Syndrome Research Foundation)” NIH, NINDS K99/R00 Award “This work was funded by a NIH NINDS K99/R00 Award.” Source: lab pages 8 platforms and techniques › Techniques human genetics, next-generation sequencing, disease modeling, CRISPR-edited iPSC lines, forebrain organoids, mouse models, molecular and cellular biology, imaging techniques Source: lab pages Currently hiring › “We are always seeking motivated, passionate and audacious individuals with a strong interest in science and research to join our team!” Source: lab positions page	Poster Thu Oct 22 4:15 pm Defining functional consequences of PCDH19 missense variation using multiplexed cell-based assays Molecular Effects of Genetic Variation Neurodevelopmental Poster Fri Oct 23 2:30 pm The PACS1 syndrome causative variant diverges from loss-of-function model in iNeurons, suggesting alternative pathogenic mechanism Molecular Effects of Genetic Variation NeurodevelopmentalStem cellRare variantsProteomics
Perera Labpereralab.mystrikingly.com Wet + dry lab Integrates genomic DNA, transcriptomic mRNA, pharmacokinetic and clinical data. Uses African American primary hepatocytes to study drug-response genetics in minority populations. 18 papers since 2024 › Investigation of Genomic and Transcriptomic Risk Factors of Clopidogrel Response in African Americans Clinical Pharmacology & Therapeutics, 2025 Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics npj Genomic Medicine, 2025 Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry Blood Advances, 2024 Source: OpenAlex author A5022639503 Funded by Not stated › Not stated, U54 Collaborative Consortium grant “the U54 Collaborative Consortium grant I had put in over a year ago was funded!” Source: lab pages 5 platforms and techniques › Techniques Pharmacogenomics, Primary hepatocytes, Genetic association studies, GWAS and sequencing-data analysis, High-throughput basic science Source: lab pages Currently hiring › “We are hiring!” Source: lab positions page	Session Tue Oct 20 10:00 am Modeling Choices in Omics: Implications for Health Disparities in Human Genetics Symposium Fri Oct 23 8:15 am Introduction Pharmacogenomics: Moving Beyond Gene-Drug Pairs Symposium Fri Oct 23 8:20 am Multiomic analysis of hepatocyte models – discovery of pharmacogenomics insights in African Americans Pharmacogenomics: Moving Beyond Gene-Drug Pairs
Center for Education & Career Developmentnucats.northwestern.edu ~7 people Trains Northwestern’s translational research workforce through education, mentoring and clinical-research programs. Serves early-career faculty, fellows, trainees and clinical research professionals. Funded by National Institutes of Health (NIH) › National Institutes of Health (NIH), K12 and T32 training grants · active “We have two National Institutes of Health (NIH) training grants affiliated with NUCATS: K12 and T32.” Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Assessing the clinical utility of a Genome Informed Risk Assessment (GIRA) for the management of atrial fibrillation Health Services Research and Implementation Science Collaborators: Vanderbilt University, Icahn School of Medicine at Mount Sinai +1 more Polygenic risk scoreGenomicsGenetic counselingElectronic health records
Center for Genetic Medicinecgm.northwestern.edu Wet + dry lab~113 people Provides 10x Chromium, microarray, DNA sequencing and EHR/biobank services through NUSeq and NUgene. Supports cancer, cardiovascular disease, neurogenomics and precision-medicine research. Funded by Northwestern Medicine, National Institutes of Health +5 more › Northwestern Medicine, NUgene Project · active “It is funded by Northwestern Medicine.” NIH, Grant 1S10OD025120 for the 10x Chromium · active “We would also like to acknowledge NIH Grant 1S10OD025120 for the 10x Chromium housed in the NUSeq Facility.” NIH, Grant CA60553 · active “supported in part by NIH grant CA60553 to the Robert H. Lurie Comprehensive Cancer Center at Northwestern University” +4 more on the lab page Source: lab pages 16 platforms and techniques › Runs 10x Chromium, Illumina NovaSeq X Plus, MiSeq i100, PacBio Revio, Oxford Nanopore technologies, RNA-seq, ATAC-seq, methyl-seq Techniques CRISPR/Cas9 gene editing, Transgenic mice, Gene targeting, ES cell injection, Induced pluripotent stem cells, Epigenetic profiling, Polygenic risk scores, Gene therapy Source: lab pages Currently hiring › “The NUSeq (Genomics) Core Facility invites applications for a Core Technologist to join a dynamic team advancing cutting-edge genomics research.” Source: lab positions page	Poster Thu Oct 22 4:15 pm Cumulative Genetic Risk for Asthma Contributes to Disease Severity in Children with Asthma Complex Traits and Polygenic Disorders Collaborators: University of Chicago, Lurie Children's Hospital +11 more AsthmaPolygenic risk scoreComplex traitsCharacterization of disorders
Molecular Diagnostics Laboratoryluriechildrens.org/en/specialties-conditions/genetics-laboratory-services Wet lab Provides diagnostic testing with microarray, MLPA, Sanger sequencing, NGS panels, PCR and methylation assays. Studies inherited and acquired genetic disorders from blood, saliva and tissue. 34 papers since 2024 › An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Genome Medicine, 2025 ATP13A4 gates extracellular polyamine levels to control excitatory synaptogenesis medRxiv, 2025 Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis American Journal of Medical Genetics Part A, 2024 Source: OpenAlex author A5016163101 13 platforms and techniques › Runs Microarray, MLPA, Sanger sequencing, Next Generation Sequencing panels, PCR, Gel electrophoresis, Realtime-PCR, High-density array comparative genomic hybridization Techniques Trinucleotide repeat sizing, STR chimerism analysis, Methylation status analysis, RNA fusion transcript characterization, PHOX2B full-gene sequencing Source: lab pages No funding stated · No openings posted	Poster Wed Oct 21 2:30 pm Long-Read Genome Sequencing as a Unified Diagnostic Paradigm for Complex Genomic Variation: Application to PHOX2B and CCHS Laboratory Genetics and Genomics Collaborators: Lurie Children's Hospital Long-read sequencingLaboratory genetics and genomicsClinical testingCopy number/structural variation
Adult Epilepsy Genetics Teamsites.northwestern.edu/carvilllab/team Wet lab~4 people Studies epilepsy genetics using DNA sequencing and cellular models. Recruits patients and families for genetic-cause and variant studies. 28 papers since 2024 › Identification of Distinct Biological Groups of Patients With Cryptogenic NORSE via Inflammatory Profiling Neurology Neuroimmunology & Neuroinflammation, 2025 Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication Neurology, 2024 Trends in management of patients with new‐onset refractory status epilepticus ( NORSE ) from 2016 to 2023: An interim analysis Epilepsia, 2024 Source: OpenAlex author A5045425222 Funded by NIH/NINDS, NIH/NINDS +4 more › Orphan Disease Center, Million Dollar Bike Ride Pilot Grant · 2023 “Orphan Disease Center 2023 Million Dollar Bike Ride Pilot Grant (PI: Carvill).” NIH/NINDS, R01 · active The NIH's standard multi-year research project grant. “NIH/NINDS R01 (PI: Carvill) “Poison Exons in Neurodevelopment and Disease”.” NIH/NINDS, U54 · active “NIH/NINDS U54 (PI: Multiple) “EpiMVP: Epilepsy Multiplatform Variant Prediction GVCC”.” +3 more on the lab page Source: lab pages 6 platforms and techniques › Runs Multiplexed Assays of Variant Effect (MAVEs), TADC-Hi-C Techniques CRISPR-Cas9 gene editing, Patient-cell reprogramming, Neuronal differentiation, Multiplexed variant-effect assays Source: lab pages No openings posted	Moderator Sat Oct 24 8:15 am Translational and Technological Advances in Genetic Therapies
BRIGHT Lab (Bridging Research In Genetics and Health Translation)sites.northwestern.edu/younglab ~7 people Studies equitable implementation of genetics using family systems, health psychology and implementation science. Works with underserved populations and families with rare or undiagnosed conditions. 18 papers since 2024 › Hybrid hydrogel–extracellular matrix scaffolds identify biochemical and mechanical signatures of cardiac ageing Nature Materials, 2025 The Rise of Mechanobiology for Advanced Cell Engineering and Manufacturing Advanced Materials, 2025 Photochemistry as a tool for dynamic modulation of hydrogel mechanics Cell Reports Physical Science, 2025 Source: OpenAlex author A5007756654 Funded by NIH › NIH, K01 Mentored Research Scientist Career Development Award · active “recently funded by an NIH K01 Mentored Research Scientist Career Development Award” Source: lab pages 6 platforms and techniques › Runs ethanol patch testing Techniques family systems, health psychology, implementation science, cascade genetic testing, psychosocial education Source: lab pages No openings posted	Moderator Thu Oct 22 1:30 pm Global and Cultural Perspectives on Genomic Risk and Implementation
Urbanek Lab Works in computational genetics and reproductive and prenatal genetics.	Poster Wed Oct 21 2:30 pm Exploring the genetic architecture of polycystic ovary syndrome (PCOS) through whole exome sequencing Complex Traits and Polygenic Disorders Collaborators: Nationwide Children's Hospital, University of Utah +1 more Rare variantsComplex traitsExome/genome sequencingMetabolic disorder

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