Studying relatively isolated gene pools helps geneticists understand how some medical conditions that are relatively common in those communities are inherited. Here are examples of ongoing studies:
Dr. Alan Shuldiner, medical director of the Joslin Center at the University of Maryland Medical System, has been working with the Amish community in Lancaster County, Pa., since 1993 to learn more about the genetic origins of diabetes.
“While diabetes does not occur more frequently in the Amish than in other population groups, the Amish are a closed population with a fixed gene pool and have very large families and essentially complete genealogies dating back 14 generations,” he says. The study has been expanded to assess thyroid conditions, osteoporosis and longevity.
To aid his search for carriers of his family’s Beta-Thalassemia trait, Stanley Diamond began an initiative that’s grown into a nonprofit organization known as Jewish Records Indexing-Poland, an Internet-based database of Jewish vital records in Poland. This database is helping geneticists and Jewish families, particularly those at increased risk for hereditary conditions and diseases, trace their medical histories. Diamond’s work has provided geneticists with the greatest number of generations ever reconstructed in the study of Beta-Thalassemia trait in an isolated gene pool.
Dr. Robert Burk, professor of epidemiology at the Albert Einstein College of Medicine at Yeshiva University, is studying prostate cancer in the Jewish population as principal investigator of the Cancer Longevity, Ancestry and Lifestyle project. “Through the establishment of a searchable database from Poland, careful analysis of the relationship between individuals will be possible at both the familial and the molecular level,” says Burk. “This will afford us the opportunity to learn not only more about the Creator’s great work, but will also allow researchers new opportunities to dissect the cause of many diseases in large established pedigrees.”
In 1996, Decode Genetics launched a controversial project to build a database of all known Icelanders for the past 1,100 years. Eventually it aims to include more than 700,000 individuals—half of all the people who’ve ever lived in the isolated island nation. Relatively homogeneous, Icelanders have also been meticulous record-keepers. But the project has raised ethical issues about the privacy of genetic information.
In August 1999, the Louisiana State University Medical Center organized a conference, Genetics of the Acadian People, to create an awareness of the unique genetic history of people from the former Acadia region in eastern Canada. Acadians are at increased risk for some genetic diseases, which can range from 35 to 250 percent higher among Acadians and Cajuns than the national average. The Acadians were French settlers who were exiled from Canada in the 1750s; Cajuns are their descendants who settled in Louisiana.