ASHG 2026 · Tier 1 Academic

University of Alabama at Birmingham at ASHG 2026

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

Birmingham, Alabama

University of Alabama at Birmingham at ASHG 2026 in Montréal: 9 presentations (8 posters, 1 featured symposium); 7 research groups.

presentations on the program

research groups identified

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Organization	ASHG 2026 Attendance
University of Alabama at Birmingham Birmingham, Alabama	4 PhD Students · 2 Faculty · 1 PI
McDonald Laboratory of Integrative 'Omicssites.uab.edu/mcdonaldlab/home/people Dry lab~9 people Integrates gene, transcript, protein and metabolite data with deep disease phenotyping. Studies COPD, osteoarthritis and joint replacement, including work in the Million Veteran Program. 47 papers since 2024 › Translational genomics of osteoarthritis in 1,962,069 individuals Nature, 2025 Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk Nature Genetics, 2025 Chronic Obstructive Pulmonary Disease Exacerbations Increase the Risk of Subsequent Cardiovascular Events: A Longitudinal Analysis of the COPDGene Study Journal of the American Heart Association, 2024 Source: OpenAlex author A5029870208 10 platforms and techniques › Analyzes Electronic health records, Quantitative CT Techniques Genetic epidemiology, Statistical genetics, Bioinformatics, Network analysis, Differential expression analysis, qPCR, RNA extraction, Pharmacogenetic enrichment scores Source: lab pages Currently hiring › “Current openings include post-doctoral, pre-doctoral and student research assistants.” Source: lab positions page No funding stated	Poster Wed Oct 21 2:30 pm Candidate DNA repair genes associated with cognitive outcomes in Head and Neck Cancer Cancer CancerCandidate geneBrain/nervous system Poster Thu Oct 22 4:15 pm Pathway analysis identified biological mechanisms of hip osteoarthritis in the Million Veteran Program Complex Traits and Polygenic Disorders Collaborators: University of California, Los Angeles Complex traitsExpression quantitative trait lociGenome-wide association studyTranscriptome Poster Fri Oct 23 2:30 pm Spatial Transcriptomics of Skeletal Muscle in COPD and COPD Cachexia Reveal Dysregulation in Intracellular Communication and Mitochondrial Dysfunction Omics Technologies Collaborators: Harbor–UCLA Medical Center Spatial transcriptomicsMuscular abnormalitiesComplex diseasesMitochondria
Center for Computational Genomics and Data Sciencesites.uab.edu/cgds Dry lab~12 people Analyzes whole genome sequencing, RNA-seq, multi-omic profiling and clinical data with computational genomics tools. Supports rare-disease diagnosis, variant prioritization and precision medicine. 18 papers since 2024 › An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Genome Medicine, 2025 Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project Human Genomics, 2024 Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder Genetics in Medicine, 2024 Source: OpenAlex author A5006311402 Funded by ARPA-H, NIH › NIH, Center for Precision Animal Modeling, Grant No. 2U54OD030167-06 · through 2030 “CPAM has received renewed NIH funding (Grant No. 2U54OD030167-06) through 2030” ARPA-H, Biomedical Data Science · active “CGDS Awarded ARPA-H Funding as Part of $8.7M UAB-Led Initiative in Biomedical Data Science” Source: lab pages 11 platforms and techniques › Analyzes whole genome sequencing, RNA-seq, WES, bulk RNA-seq, single-cell atlas, VCF data Techniques gene regulatory network analysis, machine learning, systems biology, precision animal modeling, variant prioritization Source: lab pages Currently hiring › “We are always interested in talking to creative, motivated, and inquisitive individuals at various career stages.” Source: lab positions page	Poster Wed Oct 21 2:30 pm Integrative multi-omics reveals regulatory network rewiring and candidate genetic modifiers in heritable pulmonary arterial hypertension Molecular Effects of Genetic Variation Collaborators: University of Alabama Exome/genome sequencingGene regulationRare variantsRNA-seq Session Fri Oct 23 9:45 am Advocates in Action: ACGT Presentations and Networking Event
Chen Labbio.informatics.uab.edu Dry lab~8 people Builds computational models and AI tools for multi-omics, clinical, genomic and real-world data. Uses them for drug discovery, precision medicine and translational informatics. 85 papers since 2024 › Photo-neuro-immuno-endocrinology: How the ultraviolet radiation regulates the body, brain, and immune system Proceedings of the National Academy of Sciences, 2024 Comparison and optimization of biomass-derived hard carbon as anode materials for sodium-ion batteries Chemical Physics Letters, 2024 AI-readiness Criteria for Biomedical Data bioRxiv (Cold Spring Harbor Laboratory), 2024 Source: OpenAlex author A5058469124 Funded by NIH, NIH +4 more › NIH/NCATS, UM1 TR004771; UAB Center for Clinical and Translational Science · 2024-2031 “UM1: TR004771 NIH/NCATS ... UAB Center for Clinical and Translational Science (CCTS) ... 2024-2031” NIH, U54 OD036472; CONNECT · 2024-2029 “U54: OD036472 NIH ... CONNECT: Collaborative Network for Nurturing Ecosystems of Common Fund Team Science ... 2024-2029” NIH, U24 AG098157; ReCARDO · 2024-2029 “U24: AG098157 NIH ... ReCARDO: Using Real-World Data to Derive Common Data Elements for AD/ADRD Research ... 2024-2029” +3 more on the lab page Source: lab pages 9 platforms and techniques › Analyzes U-BRITE, Cell Maps for AI, N3C Techniques Network pharmacology, LLM agent swarms, Multi-omics integration, Digital twin simulation, Knowledge graphs, Privacy-preserving health informatics Source: lab pages Currently hiring › “A limited number of internship and volunteer positions are available each year” Source: lab positions page	Symposium Wed Oct 21 8:25 am The Bridge2AI Consortium Cell Maps for AI (CM4AI) Project: Accelerating functional genomics within the Common Fund Data Ecosystem Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem
Genomic Medicine & Program for Translational Pharmacogenomicsidm.uab.edu/cgi-bin/dir/query?key=GPZVFMAH&pop=1 Dry lab Analyzes genotype, clinical and drug-response data with candidate-gene, genome-wide association and exome approaches. Applies genotype-guided therapy to anticoagulant and antiplatelet response across UAB clinical care. 34 papers since 2024 › Splenic CD169 + Tim4 + Marginal Metallophilic Macrophages Are Essential for Wound Healing After Myocardial Infarction Circulation, 2025 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Advancing genomics to improve health equity Nature Genetics, 2024 Source: OpenAlex author A5079771081 Funded by National Human Genome Research Institute, State of Alabama › National Human Genome Research Institute, SouthEast Regional GEnomic Medicine eConsult Service (SEGEMS) · through February 2028 “a $2.9 million NIH grant awarded to [name], Pharm.D., Ph.D., will expand genomic medicine access through SEGEMS” State of Alabama, Alabama Genomic Health Initiative · active “Supported by the State of Alabama and driven by a shared goal to improve health outcomes” Source: lab pages 4 platforms and techniques › Techniques Candidate-gene analysis, Genotype-guided therapy, Prospective cohorts and randomized clinical trials, Genomic risk scores Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Precision Medicine for Brain Health: Early Experience Implementing Pharmacogenomics Across Three Clinical Settings at a Large Academic Institution Pharmacogenomics Collaborators: University of Alabama at Birmingham Hospital PharmacogenomicsClinical testingBrain/nervous system
Hugh Kaul Precision Medicine Instituteuab.edu/medicine/pmi/about/leadership-team Wet + dry lab~27 people Uses AI, bioinformatics, genomic engineering, lab science and mediKanren to study genetic disorders. Develops therapeutic strategies with patients, families, clinicians and researchers. 24 papers since 2024 › Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 Characteristics and determinants of pulmonary long COVID JCI Insight, 2024 De novo variants in DENND5B cause a neurodevelopmental disorder The American Journal of Human Genetics, 2024 Source: OpenAlex author A5086121459 Funded by ARPA-H, NIH › ARPA-H · active “PMI also leads ARPA-H initiatives focused on AI-driven data integration, drug repurposing for rare diseases” NIH · active “At UAB, Dr. Might's NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics” Source: lab pages 5 platforms and techniques › Analyzes mediKanren Techniques CRISPR-Cas9, Zebrafish models, Genomic engineering, AI-driven drug repurposing Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Near-term Impact of Type 2 Polygenic Risk Score Disclosure on Glycemic Monitoring and Treatment: The Electronic Medical Records and Genomics Study Complex Traits and Polygenic Disorders Collaborators: Icahn School of Medicine at Mount Sinai, University of Washington +7 more Complex diseasesDiabetesElectronic health recordsPolygenic risk score
Rizzardi Labsites.uab.edu/rizzardilab Wet lab~6 people Uses single cell and long-read sequencing, differentiated iPSC disease models, and CRISPR inhibition/activation screens. Studies cell type-specific regulatory mechanisms in neurodegenerative and neurodevelopmental diseases. 6 papers since 2024 › Single Cell Multiomics Across Nine Mammals Reveals Cell Type Specific Regulatory Conservation in the Brain bioRxiv (Cold Spring Harbor Laboratory), 2025 Multiomic profiling of transcription factor binding and function in human brain Nature Neuroscience, 2024 Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements The American Journal of Human Genetics, 2024 Source: OpenAlex author A5081312266 7 platforms and techniques › Runs single cell multiomics, ATAC+Gene Expression, long-read transcriptomics Techniques pooled CRISPR inhibition/activation screens, iPSC culture and differentiation, single-cell multiomics, long-read transcriptomics Source: lab pages Currently hiring › “is seeking a dedicated Researcher Senior to join in the laboratory of Dr. [name]” Source: lab positions page No funding stated	Poster Thu Oct 22 4:15 pm Uncovering Alzheimer’s Disease Specific Isoform Diversity using Single Cell Long Read Transcriptomics Complex Traits and Polygenic Disorders Collaborators: Johns Hopkins University Alternative splicingAlzheimer’s diseaseLong-read sequencingProteomics
Limdi Laboratory Works in clinical genetics and therapeutics.	Poster Thu Oct 22 4:15 pm Ancestry- and sex-specific pharmacogenomic architecture of warfarin-associated hemorrhage Pharmacogenomics PharmacogenomicsMetabolomics

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