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.
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.
We have state-of-the-art laboratory facilities for processing blood or saliva samples, extracting and storing DNA from whole blood or FFPE tissue, and performing genotyping and sequencing.
Utah Population Database (UPDB)
The UPDB was originally created in the Division of Genetic Epidemiology. 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 and demographic and exposure data. It is one of the world’s richest sources for genetic studies. This powerful resource helped lead the GenEpi team to the discovery and identification of genes that contribute to cancer (BRCA1, BRCA2, CDKN2A).
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 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.
Genetic data representing the entire genome is generated for related sampled affected individuals (genotypes at millions of markers, or sequence data for the entire genome) in each pedigree. The co-inheritance of the phenotype is considered in conjunction with the inheritance of regions of the genome in related affected individuals in these high risk pedigrees to measure evidence that a disease locus might be in a particular chromosomal region. This is accomplished using powerful tools, many developed by our team of statistical geneticists.