Gene Expression and Health Risks

An important area of research involves learning how gene expression influences health and disease risks. The parts of the genome that regulate gene expression are cis-regulatory elements. Gregg and colleagues took an unusual approach to discover these cis-regulatory elements by analyzing the genomes of species that evolved disease resistance “superpowers”. Continue reading → Gene Expression and Health Risks

Analyzing Human Pedigrees to Advance Genetics and Health

Well curated human pedigrees like the iconic pedigrees maintained by the Centre d’Etude du Polymorphism Humain (CEPH) provide an invaluable resource for fundamental discoveries in human genetics and health. The CEPH collection includes families collected by R. White (Utah), J. Dausset (French), J. Gusella (Venezuelan), and J. Egeland (Amish). Continue reading → Analyzing Human Pedigrees to Advance Genetics and Health

Defining Essential Regions of the Human Genome

There is a longstanding interest in identifying the subset of our genome that is the most essential to life and normal development. Quinlan and colleagues studied genetic variation detected among >120,000 human exomes to reveal focal coding regions that lack variation in healthy individuals. Continue reading → Defining Essential Regions of the Human Genome

Rapid Identification of Microbial Pathogens

The rapid identification of microbial pathogens is critical for timely and successful treatments. Improved capabilities in pathogen identification were the focus of a collaboration between physicians and scientists in the departments of Biomedical Informatics, Human Genetics, and Pathology. Continue reading → Rapid Identification of Microbial Pathogens

Genetic Risk for Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is characterized by excessive androgen hormone, irregular menstrual cycles, and polycystic ovaries on ultrasound. Affected women also frequently experience metabolic disturbances, including obesity, and face increased risk for type 2 diabetes. University of Utah Health investigator Corrine Welt, MD, and collaborators performed an international meta-analysis of whole genome association studies combining over 10 million genetic markers in more than 10,000 European women with PCOS and 100,000 controls. Continue reading → Genetic Risk for Polycystic Ovary Syndrome