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

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

Richard M. Cawthon

M.D., Ph.D.

Research: Molecular gerontology; Healthspan; Lifespan; Rejuvenation

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

Clement Y. Chow

Ph.D.

Research: Rare disease; Modifier genes; Drug repurposing; Precision medicine

cchow@​genetics.utah.edu
Marina Venero Galanternik

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

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

Lynn B. Jorde

Ph.D.

Research: Disease-gene identification; Population genetics

lbj@​genetics.utah.edu
Gabrielle Kardon

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

Kristen Kwan

Ph.D.

Research: Eye morphogenesis, Zebrafish imaging, Extracellular matrix signaling

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

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

Gabor Marth

D.Sc.

Research: DNA sequence variations; Computational algorithms; Comprehensive web tool system

gmarth@​genetics.utah.edu
Charles Murtaugh

Charles Murtaugh

Ph.D.

Research: Pancreatic cancer; Differentiation; Signaling; Gene regulation

murtaugh@​genetics.utah.edu
Aaron Quinlan

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

Robert Weiss

Ph.D.

Research: Inherited neuromuscular disorders; Modifier genes; Pedigree studies

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

Mark Yandell

Ph.D.

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

myandell@​genetics.utah.edu
Xiaoxu Yang

Xiaoxu Yang

Ph.D.

Research: Mosaicism, Bioinformatics, Human Genetics

xiaoxu.yang@​genetics.utah.edu