Research

Functional Genetics and Genomics
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Evolution and Population Genetics
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Genetics of Health and Disease
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Computational Genomics
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Education

genetics of health and disease

The Department of Human Genetics has a long and distinguished history of discovering and characterizing genes that influence human health and disease. Using resources such as the Utah Population Database and through institutional initiatives such as the Utah Genome Project and Center for Genomic Medicine as well as individual lab and collaborative efforts, we are identifying genes critical for health and underlying common, complex diseases.

Mario Capecchi

Mario Capecchi

Professor; H.A. and Edna Benning Presidential Endowed Chair

Microglia; Anxiety; Chronic anxiety disorder; Obsessive-compulsive spectrum disorder (OCSD); Compulsive grooming; Neuropsychiatric disorders

mario.capecchi@​genetics.utah.edu
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Richard M. Cawthon

Richard M. Cawthon

Research Associate Professor

Molecular gerontology; Healthspan; Lifespan; Rejuvenation

rcawthon@​genetics.utah.edu
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Clement Y. Chow

Clement Y. Chow

Associate Professor

Rare disease; Modifier genes; Drug repurposing; Precision medicine

cchow@​genetics.utah.edu
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David Jonah Grunwald

David Jonah Grunwald

Professor

Maintenance of embryo stem cells; Transcription pausing; Calcium mobilization in tissue patterning; Genome editing; Genetics of osteoarthritis

grunwald@​genetics.utah.edu
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Lynn B. Jorde

Lynn B. Jorde

Professor and Chair

Disease-gene identification; Population genetics

lbj@​genetics.utah.edu
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Gabrielle Kardon

Gabrielle Kardon

Professor; H.A. and Edna Benning Presidential Endowed Chair

Muscle development, regeneration, and disease; Effects of viral infection on muscle structure and function

gkardon@​genetics.utah.edu
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Kristen Kwan

Kristen Kwan

Associate Professor

Eye morphogenesis, Zebrafish imaging, Extracellular matrix signaling

kmkwan@​genetics.utah.edu
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Suzanne L. Mansour

Suzanne L. Mansour

Professor

Mouse inner ear development; FGF signaling; Mouse models of human hearing loss; Genome engineering

suzi.mansour@​genetics.utah.edu
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Gabor Marth

Gabor Marth

Professor; Co-Director, Utah Center for Genetic Discovery; H.A. and Edna Benning Presidential Endowed Chair

DNA sequence variations; Computational algorithms; Comprehensive web tool system

gmarth@​genetics.utah.edu
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Charles Murtaugh

Charles Murtaugh

Associate Professor

Pancreatic cancer; Differentiation; Signaling; Gene regulation

murtaugh@​genetics.utah.edu
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Aaron Quinlan

Aaron Quinlan

Professor; Associate Director, Utah Center for Genetic Discovery

Human genome interpretation; Application of genomics to clinical care; Chromosome stability and somatic genome evolution; Algorithm and genomics software development; Cancer genetics; Nucleotide repeat disorders; Population genomics; Genetics of complex disease

aquinlan@​genetics.utah.edu
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Marina Venero Galanternik

Marina Venero Galanternik

Assistant Professor

Meninges; zebrafish; developmental and vascular biology; meningeal cells; neuroanatomy; perivascular meningeal cells; lymphatic system; lymphatic vessels; meningeal layers; high-resolution microscopy

marina.venero@​genetics.utah.edu
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Robert Weiss

Robert Weiss

Professor

Inherited neuromuscular disorders; Modifier genes; Pedigree studies

bob.weiss@​genetics.utah.edu
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Mark Yandell

Mark Yandell

Professor; H.A. and Edna Benning Presidential Endowed Chair; Director, Eccles Institute Bioinformatics program; Technical Director, Utah Genome Project; Co-Director, USTAR Center for Genetic Discovery

Computational biology; Human population genetics; Image processing; Computer-assisted bioinformatics; Comparative genomics

myandell@​genetics.utah.edu
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Xiaoxu Yang

Xiaoxu Yang

Assistant Professor

Mosaicism, Bioinformatics, Human Genetics

xiaoxu.yang@​genetics.utah.edu
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