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The majority of our research is focused on searching for and understanding genes that increase a person's risk of developing various diseases. Knowledge about inherited predisposition to these diseases will help lead to the ability of health care professionals to treat, and eventually prevent, these illnesses with greater success.

We study the role of genetics in disease progression through different types of studies, including:

Familial Aggregation Studies Is there a genetic component to the disease, and what are the relative contributions of genes and the environment?
High-Risk Pedigree Studies Genotype and sequence data can tell us on which part of which chromosome the disease gene is located. 
Association Studies Which allele of which gene is associated with the disease?

We conduct our research in several ways, including examining large health databases to determine patterns and associations of various diseases, and enrolling participants to study families that have a high incidence of a particular disease. Our research is facilitated by several unique and effective resources, including a vast tissue bank, a first-rate laboratory, the Utah Population Database, a family studies database, and genealogical pedigrees.

Tissue Bank

With over 40,000 germline DNA samples from individuals who are members of high-risk pedigrees, Genetic Epidemiology has one of the largest human tissue banks within the University of Utah. 

Family Studies Database

Our large database is notable for the breadth of genetic, demographic, epidemiological, and medical data it contains on the 40,000 individuals we have studied and sampled, as well as their relatives. All precautions are taken to protect the confidentiality and privacy of this data.

Laboratory Work

We use our laboratory facilities for processing blood or saliva samples, extracting and storing DNA from whole blood or FFPE tissue, and performing genotyping and sequencing.

Pedigree Analysis

We use unique Utah genealogical resources linked to statewide medical data to identify pedigrees with a statistical excess of a phenotype of interest. These high-risk pedigrees are different from those studied in most populations not only because of their size (many generations deep), but also because they do not just include a large number of affected individuals, but they are validated to have a statistically significant excess of the phenotype of interest over what is expected in the Utah population.

Utah Population Database (UPDB)

The UPDB was originally created in the Genetic Epidemiology Research Program. We have analyzed this unique and powerful resource longer than any other group and have created a large set of tools for genetic analysis of any phenotype of interest. The UPDB is a genealogical and population database of >8 million individuals linked to high-quality medical, demographic and exposure data. It is one of the world’s richest sources for genetic studies. This powerful resource helped lead to the discovery and identification of genes that contribute to cancer (BRCA1, BRCA2, CDKN2A).

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