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Utah Population Database Draws World Leaders in Human Genetics

October 24, 2005 — They have found the genes for some of the deadliest diseases known -breast, prostate, and colon cancer, melanoma, cystic fibrosis and Huntington disease, to name just a few, and cracked the code for the human genome. Even the genes that make us old have come under their scrutiny.

On Tuesday, October 25, these leaders in human genetics will gather at Huntsman Cancer Institute at the University of Utah for a day-long symposium to commemorate the 30-year anniversary of the unique research tool they have used in their investigations-the Utah Population Database-and to look towards the future.

“Thirty years ago the Utah Population Database began as an interdisciplinary and collaborative effort among researchers. Today it is more vital and dynamic than ever,” said Geraldine Mineau, Ph.D., director of Population Sciences at Huntsman Cancer Institute and research professor, Department of Oncological Sciences at the University of Utah. “The resource draws researchers from genetics, epidemiology, population studies and many areas of medical research to conduct studies that would be difficult or impossible to do elsewhere.” Mineau has also directed the development and management of the Utah Population Database since 1994.

“The Utah Population Database is the future of medical research,” said Stephen M. Prescott, M.D., an investigator at Huntsman Cancer Institute and CEO of LineaGen, a nonprofit research enterprise that supports Utah Population Database-related research with industry partners. “The information and expertise provided by this resource will benefit everyone in the world.”

Headlining the symposium is Francis Collins, M.D., Ph.D., director of the National Human Genome Research Institute at the National Institutes of Health. In that role, Collins leads the U.S. government’s effort to map and sequence the human genome. Before that, his research had identified the genes for cystic fibrosis, neurofibromatosis, and Huntington disease.

Utah Governor Jon Huntsman Jr. is among the invited speakers, as well as researchers from the University of Utah, Harvard, Johns Hopkins University School of Medicine, and the University of Oxford.

Media note: Symposium runs from 8:30 a.m. – 4:30 p.m. with a noon break. At 1:00 p.m., Gov. Jon Huntsman, Jr. will speak, followed at 1:15 p.m. by Dr. Collins. At 3:15 p.m. there will be a short break, and Dr. Collins, Stephen Prescott, M.D., Huntsman Cancer Institute investigator and CEO of Lineagen, and others will be available for interviews.

Quick Facts about the Utah Population Database

  • The Utah Population Database (UPDB) is the largest and most complete population database in the US that is used for biomedical research. It includes information on 6.4 million individuals linked through 9 million records.

  • UPDB records include data from the Utah Bureau of Vital Records (birth, death and marriage certificates), Utah driver license records, Utah and Idaho Cancer Registries, and family history information from the Church of Jesus Christ of Latter-day Saints’ Utah Family History Library.

  • UPDB is administered by the University of Utah and managed by Huntsman Cancer Institute under the leadership of Dr. Mineau.

  • Researchers use UPDB to identify and study families that have higher than normal incidence of cancer or other disease, to analyze patterns of genetic inheritance, and to identify specific genetic mutations.

The cancer connection

The UPDB has been powerful in facilitating genetic research in cancer because of its access to a population-based, statewide cancer registry. Using this resource, discoveries such as the first breast cancer mutation, the P16 gene mutation in melanoma cancer, the APC gene mutation in colon cancer, and HPC2, a prostate susceptibility gene, were made by researchers at the University of Utah.

The genealogy connection

Utah family histories can go back as many as ten generations. Most families living in Utah are represented in the UPDB. Merging data from genealogy records of the Utah pioneers and their descendants with those from birth certificates allows information for new generations to be added to existing families. Birth and marriage records also help reconstitute Utah families that are not part of the genealogies. For example, 79 percent of the 21,463 individuals issued Utah birth certificates in 1950 have grandparent information in the UPDB, and 58 percent have seven or more previous generations documented.

A representative family in the Utah Population Database is pictured below, along with their pedigree chart. From genealogy records and birth certificates, information about this family spans 10 generations, from 1807 to 2003. The couple pictured here with nine of their twelve grown children has 3, 764 descendants (2003).

Huntsman Cancer Institute
Department of Communication and Public Affairs
2000 Circle of Hope, Room 5156, Salt Lake City, UT 84112