Research labs at University of Utah .

Aaron Quinlan Research Group

Computational genomicsRare disease geneticsStructural variation

Aaron Quinlan · Professor and Chair of Human Genetics

Which changes in a genome matter for disease, and how can researchers find them efficiently? The group combines genetics and genomic technologies with computer science and machine learning to analyze genetic variation. Researchers develop software for identifying candidate variants in rare familial disease and detecting structural changes such as deletions, duplications and inversions. Another direction examines genomic changes involved in cancer evolution, treatment resistance and relapse. The lab also maintains practical tools for manipulating and comparing large sequencing datasets, including BEDTOOLS, GEMINI and LUMPY.

Bellamkonda Kishore Research Group

Bellamkonda Kishore · Research Professor, Nephrology & Hypertension

How does purinergic signaling regulate renal water and sodium handling and metabolic responses to diet? The Kishore Lab investigates purinergic signaling mediated by extracellular nucleotides and nucleosides in renal physiology and pathophysiology. Researchers study specific P2Y receptors (P2Y2 and P2Y12) as targets for treating water-balance disorders and diet-induced obesity and insulin resistance. The group examines CD39 (NTPDase1) roles in kidney regulation of water and sodium handling using collaborative experimental models. Projects include inducing proliferation of erythropoietin-producing kidney cells as a potential therapy for anemia of chronic kidney disease.

Karen Eilbeck Research Group

Karen Eilbeck · Professor of Biomedical Informatics

How can structured ontologies improve analysis and sharing of genomic and biological data for precision medicine questions? The lab develops ontologies and ontology-enabled software to manage and analyze genomic and biological data. Researchers apply bioinformatics techniques and computer-science methods to organize biological data so it becomes more amenable to computational analysis. The group builds user interfaces and tools to query and visualize controlled genomic terminology and variant annotations for downstream interpretation. Ongoing work includes development and application of software and ontologies to support precision-medicine analyses of genomic variation.

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Katherine E. Varley Research Group

Katherine E. Varley · Professor

How are epigenetic gene regulation and DNA methylation patterns disrupted in breast cancer cells? The Varley Lab applies next-generation sequencing assays and computational analysis to map gene expression, transcription factor binding, and DNA methylation in breast cancer. The group integrates genomic assays with computational pipelines to discover candidate drug targets and biomarkers for breast cancer treatment. Ongoing projects include creation and application of sequencing-based assays and translational efforts to convert genomic discoveries into clinical tools.

Keke C. Fairfax Research Group

Keke C. Fairfax · Associate Professor of Microbiology and Immunology

How does Schistosoma mansoni infection alter immune development and protection against metabolic and inflammatory diseases? The laboratory uses Schistosoma mansoni infection models to study IL-4 driven immunomodulation and its consequences for B and T cell memory. Researchers use IL-4 reporter mice and antigen challenge to dissect IL-4 roles in maintaining follicular dendritic cells, lymphatic endothelial cells, and peripheral lymph node environments. The group performs transcriptional and metabolic profiling of hepatic macrophages to identify changes in phospholipid, cholesterol, and amino-acid pathways linked to infection-induced protection from metabolic disease. Projects include maternal schistosomiasis models to assess prenatal antigen exposure effects on offspring immune responsiveness.