On the Brink of Important Genetic Discoveries at the U
| Jun 25, 2012 3:00 PM
We are on the brink of huge genetic discoveries that will impact the way everyone practices medicine. These discoveries will motivate research for scientists all over the world. And if we have it our way, much of this revolution will center on the resources that are uniquely Utahn—rich family genealogies, world-class genetics researchers, and critical bioinformatics expertise. From the advances that will be possible with Utah resources, the dream of personalized medicine will move closer to reality.
The University of Utah is practically synonymous with the words “excellence in human genetics.” From Mario Capecchi’s work in knockout mice technology to the more than 30 human genes, including breast cancer genes, BRCA1 and BRCA2, first identified at the University, we have a remarkable legacy of outstanding research and discoveries. In Utah, we also particularly value not only families, but the careful recording of family relationships and extensive genealogical databases. In 1989, Ezra Taft Benson, president of the Church of Jesus Christ of Latter-day Saints , signed an agreement with then- president of the University, Chase Peterson, allowing the conduct of research using genealogical resources and other data, providing appropriate reviews were performed and projects approved. What is known as the Utah Population Database (UPDB) is the largest and most complete database of families that contains health data, medical records, driver’s license information, and more.
This kind of database is a gold mine for biomedical research because it is a uniquely powerful tool for understanding why some people develop certain diseases and others don’t. Until recently, the genome wide association studies (GWAS) required thousands of research subjects with and without a disease to identify a few candidate genes to research. By studying the genetics of families who are affected by specific diseases, our scientists need only study few members of few affected families to identify important disease-causing genes.
This summer, under the leadership of Lynn Jorde, chair of the Department of Human Genetics, we will start a project to conduct DNA sequencing on families who agree to participate in this important research. We will be asking community supporters to help fund this project as we also seek federal research grants. In our highly productive culture of collaboration and with our strong community commitment, we hope to advance science and protect the health of Utahns for generations to come.
Author: Vivian S. Lee, M.D., Ph.D., M.B.A.
About the Author: Dr. Vivian S. Lee is the Senior Vice President for Health Sciences at the University of Utah, Dean of the University of Utah School of Medicine, and CEO of University of Utah Health Care. Read her full bio herecomments powered by Disqus