ENGLISH N ENGLISH N ENGLISH N ENGLISH N ENGLISH N ENGLISH N ENGLISH HHapapMMapapNewsNews A Publication of the Coriell Institute for Medical Research, V olume 2, 2005 In the three years since it FirstFirst HapMapHapMap MilestoneMilestone ReachedReached started, the HapMap Project With a big celebration and press people. The samples studied to develop is already proving to be a conference in Salt Lake City, Utah, U.S. this resource were from: powerful resource for in October 2005, the International N Yoruba in Ibadan, Nigeria HapMap Consortium announced the researchers. Around the N Japanese in Tokyo, Japan completion of the basic HapMap. This N Han Chinese in Beijing, China world, scientists believe that resource, which includes a vast amount N CEPH (a Utah, U.S. community this valuable tool will help of data, shows the patterns of genetic with northern and western variation in DNA samples from 270 them to understand how European ancestry). continued genetics contributes to “While many people around the world have human health and diseases contributed to the HapMap Project, we are like cancer, heart disease, especially grateful to those who donated their diabetes and depression, as blood samples. Without their generosity, this well as aid them in finding project could not have been done.” the genes that affect people’s - Dr. Yusuke Nakamura, leader of the HapMap group at RIIKEN and the University of Tokyo in Japan responses to medicines. About the Coriell How to Contact Us Institute We encourage your community, through your Community Advisory Group, to let us know what other types of information you wish to receive. At the Coriell Institute, The Coriell Institute for Medical Dr. Jeanne Beck oversees the Institute’s involvement in the HapMap Project. Dr. Beck Research in Camden, New Jersey is a also coordinates outreach to participating communities and researchers. She can be not-for-profit basic research institute reached at: with an international reputation based on its accomplishments in genetics Dr. Jeanne Beck research and cell banking. Its cell Director, Coriell Cell Repositories repositories contain the world’s largest Coriell Institute for Medical Research cell culture collection for use in 403 Haddon Avenue research, forming a central and Camden, New Jersey 08103, USA irreplaceable resource for the worldwide Telephone: scientific community. 800-752-3805 in the United States 856-757-4822 from other countries Fax: 856-757-9737 Email: [email protected] Website: http://www.coriell.org FirstFirst GeneGene DiscoDiscovverereded UsingUsing thethe HapMapHapMap Even before the first phase of the macular degeneration. But it is an exams. Knowing about the genes relat- HapMap project was finished, the important first step. Based on this new ed to macular degeneration will help HapMap was used to help find genes knowledge, researchers may eventually doctors detect the disease earlier in peo- associated with people’s risk for devel- be able to develop a test to see which ple who already have it, and may some- oping several common conditions. The people have the form of the gene (the day lead to better treatment methods. first major success was the discovery of “variant”) that puts them at higher risk Other discoveries are on the horizon. several genes related to age-related to develop this disease. When people are For example, researchers are already macular degeneration. tested and have this variant, their doctors using the HapMap data to help identify Macular degeneration affects 25-30 can advise them about extra precau- genes associated with type 2 diabetes, million people and is one of the leading tions they should take to decrease their kidney disease, and the way different causes of blindness in people around chances of blindness – like not smok- people respond to some drugs. Future the world. ing, staying out of bright sunlight as issues of HapMap News will report on Of course, finding these genes will much as possible, eating more vegeta- some of the new discoveries that will not provide an immediate cure for bles, and having more frequent eye result from this and related research. continued from page 1 “While many people around the world N Tuscans in Tuscany, Italy “As samples from more groups are have contributed to the HapMap Project, N People of Mexican origin in Los studied, the HapMap will become an we are especially grateful to those who Angeles, California (U.S.) even more broadly useful and inclusive donated their blood samples. Without N Gujarati (India) in Houston, Texas resource,” said Dr. David Altshuler, leader their generosity, this project could not (U.S.). of the HapMap group at The Broad Institute and Massachusetts General have been done,” said Dr. Yusuke Comparing the patterns of genetic Hospital in Boston, MA (U.S.). While Nakamura, leader of the HapMap group variation in the samples from these each community that donated blood at RIIKEN and the University of Tokyo in groups will help researchers understand samples for the Project is unique, all Japan. how well the basic HapMap, developed participating communities share a Reaching this milestone was just with samples from the first four groups, common feature: they have all made a the first step in developing what will may work to find disease-related genes major, lasting contribution to the future eventually become an even more useful in people who live in or have ancestors health of people everywhere. resource. Starting soon, researchers will from other parts of the world. move into a new phase of the Project which will look at samples from seven additional populations: “As samples from more groups are studied, the N Luhya from Webuye, Kenya, HapMap will become an even more broadly N Maasai from Simba, Kenya useful and inclusive resource.” N People of African ancestry in the southwestern U.S. - Dr. David Altshuler, leader of the HapMap group at The Broad Institute N People from the Denver, Colorado and Massachusetts General Hospital in Boston, MA (U.S.) (U.S.) metropolitan Han Chinese community SpecialSpecial FeaturFeaturee This issue highlights three participating communities. Han Chinese in receiving information about the develop- Amendment of 1965 (which abolished ment of the Project itself and how the national origin quotas and opened immi- Beijing, China samples are being used by the larger gration), and people from Vietnam and The Han Chinese population is the scientific community. the People’s Republic of China who came largest of 56 ethnic groups in China and in the mid and late 1970’s, respectively. the largest single ethnic group in the The samples from the Denver, world. More than 90% of the Chinese Colorado community will be studied in population, and about 19% of the entire Phase 3 of the HapMap Project. Overall, world’s population, self-identify as Han. community members and the CAG were The name “Han” comes from the Han eager to participate in the community Dynasty, which ruled most parts of the engagement and sample collection activi- geographical heartland of China from ties. Many expressed hope that this genet- 202 BC to 220 AD. ic research will contribute to improving The Han Chinese samples collected in health and preventing diseases. Beijing were studied in Phase 1 and 2 of Members also reported that because the HapMap Project. These samples they feel somewhat suspicious and came from members of the residential cautious, they want genetic researchers to community at Beijing Normal University According to members of the Community be respectful and truthful about their (BNU), a large, highly respected educa- Advisory Group at Beijing Normal University research as well as knowledgeable about tional institution with 25 schools and (shown above) residents of this community the wide range of Chinese ethnic and departments, fourteen institutes, a night were honored to contribute samples. cultural diversity, cultural values and school, and continuing education practices without stereotyping individuals programs. The residential community at Denver, Colorado (U.S.) or their community. CAG members are BNU has almost 35,000 people, ranging looking forward to seeing how the sam- from faculty and students to their fami- Metropolitan Area ples collected from their community are lies, university staff, and a wide range of being used in genetic research and look professional and service workers. People Han Chinese forward to their ongoing relationships from many different backgrounds were Denver, Colorado, with a population of with each other and the Coriell Institute. involved in discussions about the approximately 557,000, is home to HapMap Project or donated samples for 100,000 Asian people, of whom about study, including people from 22 out of 31 15,600, or 6.4%, self-identify as Chinese. Chinese provinces, autonomous regions, The Denver, Colorado Metropolitan Area and municipalities. Chinese community is an especially The participants themselves under- heterogeneous community composed of stand that the HapMap Project will bene- people with many diverse emigration, fit the improvement of human health social and cultural experiences. The and medical research at large, and feel people include those whose families honored to have had the opportunity to immigrated to the area in the 1800’s, contribute on behalf of China. Although exchange students studying in Denver in there were some initial questions about the late 1940’s, individuals primarily from the future uses of the samples, and some Taiwan and Hong Kong regions who The celebration of the Dragon Boat Festival is questions about where the samples will came following the passage of the an important annual event for the Chinese be stored and distributed, the CAG enjoys Immigration and Nationality Act community in Denver, Colorado. CEPH (Utah, U.S. residents with northern and western European ancestry) These samples, which were studied for around Salt Lake City, Utah (population Phase 1 and 2 of the HapMap Project, approximately 220,000).