ASHG 2026 · Tier 2–3 Academic

University of Arizona at ASHG 2026

Tucson, Arizona

University of Arizona at ASHG 2026 in Montréal: 5 presentations (2 posters, 1 featured symposium, 1 lightning talk); 3 research groups.

5
presentations on the program
3
research groups identified
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Arizona
Tucson, Arizona
3 PhD Students · 1 PI
Karnes Labkarnes.lab.arizona.edu
Dry lab~11 people
Uses All of Us, electronic health records, GWAS and single cell-RNA-TCR-CITE-seq to study cardiovascular and immune pharmacogenomics. Aims to improve genotype-guided prescribing for anticoagulant safety.
25 papers since 2024
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
Communications Biology, 2024
Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension
Circulation, 2024
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension
Science Translational Medicine, 2024
Source: OpenAlex author A5009496216
Funded by NIH/National Heart, Lung, and Blood Institute, NIH/National Heart, Lung, and Blood Institute +8 more
NIH/National Heart, Lung, and Blood Institute, R01HD111125 · 08/01/2023-05/31/2028
The NIH's standard multi-year research project grant.
“R01HD111125 (PI: Erickson) 08/01/2023-05/31/2028 NIH/National Heart, Lung, and Blood Institute”
NIH/National Heart, Lung, and Blood Institute, R01 HL156993 · 07/01/2022-06/30/2026
The NIH's standard multi-year research project grant.
“R01 HL156993 (PI: Karnes) 07/01/2022-06/30/2026 NIH/National Heart, Lung, and Blood Institute”
NIH/National Heart, Lung, and Blood Institute, R01 HL158686 · 08/01/2021-05/31/2026
The NIH's standard multi-year research project grant.
“R01 HL158686 (PI: Karnes) 08/01/2021-05/31/2026 NIH/National Heart, Lung, and Blood Institute”
+7 more on the lab page
Source: lab pages
8 platforms and techniques
Analyzes
All of Us Research Program, Electronic health records, Single cell-RNA-TCR-CITE-seq
Techniques
Genome-wide association studies, Phenome-wide association studies, Machine learning, Functional genomics, Local ancestry
Source: lab pages
Currently hiring
“A postdoctoral position is available in the laboratory of Dr. [name]”
Source: lab positions page
Talk
Wed Oct 21
2:23 pm
Phenome-wide association of pharmacogenomic metabolizer and functional status in the All of Us research program
Clinical Genetics Across the Lifespan: From Gene Discovery to Prenatal, Developmental, and Pharmacogenomic Insights
Phenome-wide associationPharmacogenomicsElectronic health recordsPopulation genetics
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Phenome-wide association of pharmacogenomic metabolizer and functional status in the All of Us research program
Pharmacogenomics
Electronic health recordsPharmacogenomicsPhenome-wide associationPopulation genetics
Symposium
Fri Oct 23
8:50 am
Kruer Labkruerlab.org
Wet + dry lab
Uses whole-exome trio studies and validates genes in Saccharomyces, Drosophila and patient-derived iPSC neurons. Targets genetic causes of cerebral palsy and pediatric movement disorders.
65 papers since 2024
Influenza-Associated Acute Necrotizing Encephalopathy in US Children
JAMA, 2025
A programmed decline in ribosome levels governs human early neurodevelopment
Nature Cell Biology, 2025
Uncertainties Regarding Cerebral Palsy Diagnosis
Neurology Clinical Practice, 2024
Source: OpenAlex author A5042270742
Funded by National Institutes of Health, National Institutes of Health +2 more
National Institutes of Health, R01 NS106298, Genomic Insight into the Neurobiology of Cerebral Palsy · active
The NIH's standard multi-year research project grant.
“His lab is partially funded by his award, NIH Grant No R01 NS106298, Genomic Insight into the Neurobiology of Cerebral Palsy.”
National Institutes of Health, 1R01DK123113-01A1, Molecular mechanism underlying the regulation of manganese homeostasis · active
The NIH's standard multi-year research project grant.
“He is also a co-investigator on NIH Grant No 1R01DK123113-01A1, Molecular mechanism underlying the regulation of manganese homeostasis.”
Dystonia Medical Research Foundation
“His research has been supported by the Dystonia Medical Research Foundation”
+1 more on the lab page
Source: lab pages
7 platforms and techniques
Works with
whole-exome trio studies, fluorescent microscopy
Techniques
functional validation, Saccharomyces model systems, Drosophila model systems, patient-derived iPSC neuron model systems, in vitro cellular morphometry
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Expanding the phenotypic spectrum of the recurrent de novo FBXO31 p.Asp334Asn variant: Evidence for a novel neurodevelopmental disorder (Kruer syndrome)
Mendelian Phenotypes
Collaborators: Phoenix Children's Hospital, Pitié-Salpêtrière Hospital +3 more
Candidate geneCharacterization of syndromesClinical geneticsDevelopment
Romanoski Labsites.arizona.edu/romanoski-lab/home/people
Wet + dry lab~5 people
Studies endothelial-cell gene regulation using single-cell RNA sequencing. Targets atherosclerosis, hypertension and GWAS loci.
13 papers since 2024
Single-cell RNA sequencing reveals sex differences in the subcellular composition and associated gene-regulatory network activity of human carotid plaques
Nature Cardiovascular Research, 2025
Lipid raft proteomics identify endothelial myosin-9 (MYH9) as a regulator of low-density lipoprotein transcytosis and atherosclerosis
Proceedings of the National Academy of Sciences, 2025
Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro
Arteriosclerosis Thrombosis and Vascular Biology, 2024
Source: OpenAlex author A5088744297
Funded by Not stated
Not stated, Interdisciplinary Training in Cardiovascular Research (T32) · July 2025
“Kyla Vazquez received the grant Interdisciplinary Training in Cardiovascular Research (T32)!”
Source: lab pages
6 platforms and techniques
Analyzes
single-cell RNA sequencing
Techniques
systems genetics, transcriptional network determination, functional genetics of GWAS loci, CRISPR transfection, epigenomics and functional genomics
Source: lab pages
Currently hiring
“If you are interested in joining our team, email the lab.”
Source: lab positions page
Talk
Thu Oct 22
9:15 am
Single-cell profiling of genetic risk for cardiovascular disease in endothelial cell ‘populations-in-a-dish’ under athero-prone and athero-protective shear stress
Genetic Associations and Mechanisms in Cardiovascular Disease
Cardiovascular systemExpression quantitative trait lociSingle-cellComplex diseases

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