Genetics Researchers Collaborate with Utah Families

In 1990, the doors of the Eccles Institute of Human Genetics were opened to a small group of researchers who quickly established an international reputation for achievement in genetics. Utah rapidly became known for creating the first genetic map, finding genetics for disorders including Neurofibromatosis and colon cancer, and participating in the Human Genome Project.

How did Utah become a prominent leader in human genetics research? the answer involves a unique collaboration between scientists and genealogists.

In the 1970s, news stories announcing identification of disease-causing genes were uncommon. It had only been 20 years since scientists had begun to understand the structure of DNA. Researchers were only beginning to look for genes that cause specific diseases. To do this, they needed to construct large family trees that would allow them to trace disease inheritance patterns.

Early on, George Cartwright, then-chairman of the University of Utah's department of medicine, recognized an unmatched natural resource for genetic studies in large Utah families who often keep extensive genealogy records. Mark Skolnik, now chief scientific officer at Myriad Genetics, was recruited to the University of Utah in the early 1970s and began a project to computerize 200,000 genealogical records held by the Utah Genealogical Society.

Skolnik's project was the first step in building a database for genetic research. The database was officially established by executive order of the governor in 1982 and is now known as the Resource for Genetic Epidemiology (RGE). It provides the two key ingredients needed for genetic studies: individual medical information and family tree structures.

Utah scientists who want to study the genetic factors of a certain condition are now able to use the RGE to find families to study. After giving their consent to participate, families donate blood samples (for DNA) and provide medical histories. Some families have even invited the scientists to come to their family reunions to collect blood samples. With the help of Utah families, scientists have tracked down genes involved in epilepsy, heart disease, hypertension, cancer, sleeping disorders, and many others.

"This is a family-oriented state. People here are more willing to participate in research that will eventually help others who have a disease that exists in their family," comments Jean Wylie, director of the RGE. "Utahns don't have a lot of suspicion about genetic research," notes Ray Gesteland, Ph.D., vice president for research at the University of Utah. "It's a helpful community."

Lynn Jorde, Ph.D., a professor of human genetics at the U., says he came to work here because of the high quality of the researchers and also because "it seemed like the most exciting place in terms of the potential both in genealogical records and local families." Dr. Jorde has used data from Utah families for his studies of genes causing ulnar mammary syndrome, autism, spina bifida, and other disorders.

The large size of Utah families has been particularly helpful to Jorde, because each child represents a new combination of its parents' genes. The RGE helps by showing how these large families are related to each other several generations back, allowing the scientists to build a more extensive family tree. "Large families aren't useful if we don't know how they are connected," says Dr. Jorde.

In the early 1980s, Raymond White, Ph.D., and Mark Leppert, Ph.D., professors of human genetics at the U., built the first genetic marker map using DNA from Utah families. The map consists of many sections of DNA sequence that function as road signs by helping researchers identify the exact location of the gene they are studying. Researchers around the world have used this map. Now many of these same families are participating in a study of the role genes play in aging, a project headed by Richard Cawthon, M.D., Ph.D., an assistant professor of human genetics at the U.

Many of the families in Dr. Cawthon's study have three living generations with an average of 10 children in the third-generation, characteristics that are helpful for studying genetics traits among families. Dr. Cawthon examines the family members' DNA for changes consistent among long- lived people.

"The RGE helps find genes that influence variation in aging-related traits," says Dr. Cawthon. "It's wonderful that the Utah Genealogical Society has decided to let their records be used for biomedical research. It speeds progress in medicine tremendously in the long run."

Support and willingness to participate, combined with extensive records and large families are enabling Utah scientists to embark on more complex genetic studies, such as studies of alcohol addiction. This project seeks to identify genes that play a role in brain biochemistry and explain why some people are much more susceptible to addiction than others. Scientists on this and other projects have had a positive view of their collaboration with Utah families. "In almost every way, it's been a real success story," says Dr. Jorde.