GENETICS IN UTAH
The LDS temple in downtown Salt Lake City.
The University of Utah in Salt Lake City has gained international renown in human genetic research, thanks to a unique gift from the people of Utah. Many of Utah's residents belong to the Church of Jesus Christ of Latter-day Saints, also known as the Mormon or LDS Church. And that has been a modern day gold rush for genetic research. "More human disease genes have been discovered in Utah than in any other place in the world," says Ray Gesteland, Vice President for Research and Distinguished Professor of Human Genetics at the University of Utah.
Genealogy - Following in the Genetic Footsteps of Disease
How can a religious culture contribute so much to science? To understand the basis of inherited diseases, scientists need to track the way illnesses move through generations of a family. And to do that, there's one thing they need above all else: a family history.
Many people create their family history as a hobby. But to the Mormons, genealogy is a sacred duty.
Members of the LDS church believe that genealogy is their sacred duty.
Mormons pursue genealogy for theological reasons. They believe that helping the world preserve its family records is a religious mandate. "That's why the Church spends big bucks and has spent a lot of years - from 1836 on - bringing together records worldwide," says Donald Jessee, manager of special projects for the LDS Church.
This massive effort has resulted in the formation of the church's Family History Library. With a collection of about eight billion names, the Library is the largest collection of genealogical records in the world, and it's located in downtown Salt Lake City.
Mining Utah's Past for Population Data
The LDS church Family History Library is located in downtown Salt Lake City.
By the 1950s, geneticists began to take notice of Utah's gold mine of heredity data. In the 1970s, several researchers in different disciplines - including cancer geneticist Mark Skolnick and cardiovascular researcher Roger Williams - forged an agreement with the Family History Library and began compiling information that would aid them in their genetic research.
With the active cooperation of the LDS Church, the researchers culled records on people who met very specific criteria - they were born, died, or married in Utah or on the Mormon Pioneer Trail (a migratory route the Mormons traveled from Illinois to Utah in the mid-1800s). The researchers pulled records on about 170,000 families, which they added to the newly-created Utah Population Database (UPDB).
The Family History Library has genealogical information recorded on more than 2.3 million rolls of microfilm and 180,000 microfiches, and in 288,000 books and 4,500 periodicals.
Geri Mineau, now the director of the UPDB, got involved with the project soon after it began in the mid-70s. She recalls having had a "great relationship with the genealogy library. They did copying for us and gave us stacks and stacks of pages. They were so cooperative in letting us pull records."
The original genealogical records on the 170,000 families now translates to data on 1.6 million individuals. In addition, the UPDB collects annual updates on Utah births, deaths, and cancer records.
LDS pioneers cross the frozen Mississippi River in February 1846, leaving behind their homes in Nauvoo, Illinois. (Image courtesy of BYU Museum of Art)
The UPDB includes records of people who were born as early as the late 1700s. Some of the families in the database are traced back to seven generations.
So, why are these family histories important? It might be fun to trace the lineage of old John Doe (to give a fictitious example), who, back in the days of Mormon polygamy, migrated to Utah from Missouri with his three wives. Perhaps the wives all gave birth on the Pioneer Trail, and the three branches of descendants have themselves branched until Doe's grandchildren and great-grandchildren number in the many hundreds.
But as important as social history may be, there's more at stake. Although Doe's genealogy records show how people are related, they don't tell researchers whether, for example, Doe's wife suffered from Huntington's Disease and passed it to her daughter, who then passed it to her own son. To be meaningful for medical research, family histories have to be linked to information about disease.
For some rare diseases, researchers have had to rely on manual data collection. They sit down with a family that has been affected by a particular hereditary disease, and together trace the incidence of the disease through past generations.
Searching for the Family Origins of Cancer
When it comes to tracing the hereditary patterns of cancer, genetic researchers in Utah have discovered a more sophisticated tool. Since 1966, the Utah Cancer Registry has documented all cancer cases in the state. Scientists can link this remarkable storehouse of medical information with the genealogy records in the UPDB, and - voila! - they can identify instances where a particular cancer "runs in the family."
To determine if a particular disease is hereditary, blood samples are collected from affected and unaffected members of a family.
"That would make us very suspicious that there is a version of a gene within that extended family that is predisposing people to cancer," says Gesteland "So we'd get blood samples from the family, from both affected and unaffected folks. And by analyzing the DNA, see if there is some gene that is inherited in the same pattern through the family as the cancer is. Then we can focus on that particular gene, looking at larger populations."
The data warehouse and the UPDB genealogy records have about a million records in common, and they are now available to researchers. "It's a first step," says Mineau.
Clean and Homogenous Living
An unusually intense genealogical interest is not the only gift people in Utah have given to genetic research. Another is the propensity to multiply. Families with five or more children are common here.
Scientists are more likely to find evidence of a disease gene in families with more than five children.
As Mineau puts it, "You can't do genetics if people just have one child." Because of the way genes are passed down from generation to generation, not every child of an affected parent will inherit a particular disease. When scientists need to see genes transmitted across generations, they are much more likely to find evidence of the disease gene in a family with five or seven children. Women in Utah also tend to give birth at a relatively young age, which means that there are more generations of family within a shorter time span.
Also helpful to researchers is that these large families tend to live long, healthy lives. Since the LDS Church frowns on smoking and drinking, some of the factors that are believed to contribute to disease are eliminated. And, as Gesteland says, environmental factors are more constant in Utah. With a fairly homogenous population, largely of Scandinavian descent, people tend to eat similar diets and lead similar lifestyles.
Although such homogeneity may sound unexciting, it's actually quite thrilling for genetic researchers. It means they can more easily separate genetic influences from other, lifestyle-related causes of illness.
Deborah Neklason, an instructor in the University of Utah's Department of Oncological Sciences, says the fact that so few Mormons smoke is a really big deal. "Cigarette smoking is a large factor in colon cancer. So when we look at these families for colon cancer, we can kind of rule out some of that cancer caused by environmental factors. We know we've got a much cleaner data set."
In 2002, Utah ranked lowest in smoking prevalence in the US. Only 12.7 percent of men and women smoke.
The "No Smoking" rule in Utah's LDS population will also be useful in a major new genetic study - the search for the genes of addiction. Since the culture in Utah discourages smoking, those that do smoke may be responding to the biochemistry of a truly addictive nature, rather than to societal pressure, Gesteland explains. In other parts of the country, social pressure may be the dominant effect encouraging smoking. In Utah, smokers must be willing to defy social norms in order to smoke, and that information gives Utah researchers the advantage in studying the biochemical side of addiction.
Utah has given genetics researchers plenty of useful data. But one of the primary reasons genetics research excels in Utah is the state's extremely helpful and cooperative populace. Researchers tell of being invited to huge family reunions and setting up a booth where family members eagerly sign consent forms and give blood samples; behaviors Gesteland calls "typical in Utah and unheard of in other places." Mineau describes a well-educated population that understands medical research and the importance of participating. And Neklason raves that Utah residents are "interested in research. We have one of the highest participation rates in the country in research, because they take a vested interest in their family and medicine and the future of medicine."
In Utah, science doesn't merely exist. It prospers. And for geneticists, the state has proven a generous beneficiary with a wealth of scientific data to contribute.
Funding for this feature was provided by a Science Education Partnership Award (SEPA) [No. 1 R25 RR16291-01] from the National Center for Research Resources, a component of the National Institutes of Health. The contents provided here are solely the responsibility of the authors and do not necessarily represent the official views of NCRR or NIH.
Author: Robin Sussingham, with additional contributions by Stephanie Watson, Jennifer Logan, Harmony Starr and Kevin Pompei.
Genetics for genealogists
In Utah, it's not just geneticists delving into genealogical records, but also genealogists exploring genetics.
The Sorenson Molecular Genealogy Foundation (SMGF) is a Utah-based non-profit organization that is building the world's foremost collection of DNA and corresponding genealogical information.
SMGF was inspired by discussions in 1999 between philanthropist James LeVoy Sorenson and BYU Professor Scott Woodward about using DNA in genealogy.
Since that time, SMGF has collected more than 60,000 DNA samples, together with four-generation pedigree charts, from volunteers in more than 100 countries around the world.
Visit the SMGF website, search for your family name, and learn how you can participate.