Research
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
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
Richard M. Cawthon
Research Associate Professor
Molecular gerontology; Healthspan; Lifespan; Rejuvenation
rcawthon@genetics.utah.edu
Clement Y. Chow
Associate Professor
Rare disease; Modifier genes; Drug repurposing; Precision medicine
cchow@genetics.utah.edu
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
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
Lynn B. Jorde
Professor and Chair
Disease-gene identification; Population genetics
lbj@genetics.utah.edu
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
Kristen Kwan
Associate Professor
Eye morphogenesis, Zebrafish imaging, Extracellular matrix signaling
kmkwan@genetics.utah.edu
Suzanne L. Mansour
Professor
Mouse inner ear development; FGF signaling; Mouse models of human hearing loss; Genome engineering
suzi.mansour@genetics.utah.edu
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
Charles Murtaugh
Associate Professor
Pancreatic cancer; Differentiation; Signaling; Gene regulation
murtaugh@genetics.utah.edu
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 cisease
aquinlan@genetics.utah.edu
Robert Weiss
Professor
Inherited neuromuscular disorders; Modifier genes; Pedigree studies
bob.weiss@genetics.utah.edu
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
Xiaoxu Yang
Assistant Professor
Mosaicism, Bioinformatics, Human Genetics
xiaoxu.yang@genetics.utah.edu