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
Ph.D.
Research: Microglia; Anxiety; Chronic anxiety disorder; Obsessive-compulsive spectrum disorder (OCSD); Compulsive grooming; Neuropsychiatric disorders
mario.capecchi@genetics.utah.edu
Richard M. Cawthon
M.D., Ph.D.
Research: Molecular gerontology; Healthspan; Lifespan; Rejuvenation
rcawthon@genetics.utah.edu
Clement Y. Chow
Ph.D.
Research: Rare disease; Modifier genes; Drug repurposing; Precision medicine
cchow@genetics.utah.edu
Marina Venero Galanternik
Ph.D.
Research: 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
Ph.D.
Research: Maintenance of embryo stem cells; Transcription pausing; Calcium mobilization in tissue patterning; Genome editing; Genetics of osteoarthritis
grunwald@genetics.utah.edu
Lynn B. Jorde
Ph.D.
Research: Disease-gene identification; Population genetics
lbj@genetics.utah.edu
Gabrielle Kardon
Ph.D.
Research: Muscle development, regeneration, and disease; Effects of viral infection on muscle structure and function
gkardon@genetics.utah.edu
Kristen Kwan
Ph.D.
Research: Eye morphogenesis, Zebrafish imaging, Extracellular matrix signaling
kmkwan@genetics.utah.edu
Suzanne L. Mansour
Ph.D.
Research: Mouse inner ear development; FGF signaling; Mouse models of human hearing loss; Genome engineering
suzi.mansour@genetics.utah.edu
Gabor Marth
D.Sc.
Research: DNA sequence variations; Computational algorithms; Comprehensive web tool system
gmarth@genetics.utah.edu
Charles Murtaugh
Ph.D.
Research: Pancreatic cancer; Differentiation; Signaling; Gene regulation
murtaugh@genetics.utah.edu
Aaron Quinlan
Ph.D.
Research: 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
Ph.D.
Research: Inherited neuromuscular disorders; Modifier genes; Pedigree studies
bob.weiss@genetics.utah.edu
Mark Yandell
Ph.D.
Research: Computational biology; Human population genetics; Image processing; Computer-assisted bioinformatics; Comparative genomics
myandell@genetics.utah.edu