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Human Genome Diversity Project

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The Human Genome Diversity Project ( HGDP ) was started by Stanford University 's Morrison Institute in 1990s along with collaboration of scientists around the world. It is the result of many years of work by Luigi Cavalli-Sforza , one of the most cited scientists in the world, who has published extensively in the use of genetics to understand human migration and evolution. The HGDP data sets have often been cited in papers on such topics as population genetics , anthropology , and heritable disease research.

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25-447: The project has noted the need to record the genetic profiles of indigenous populations, as isolated populations are the best way to understand the genetic frequencies that have clues into our distant past. Knowing about the relationship between such populations makes it possible to infer the journey of humankind from the humans who left Africa and populated the world to the humans of today. The HGDP-CEPH Human Genome Diversity Cell Line Panel

50-654: A certain person's right(s) based on lack of conformity to a certain race's genetic model. Eight of nine DNA groups under Ctrl/South category belong to Pakistan even though India is in the same group with about seven times the population of Pakistan and with far more numerous racial diversities. However, it is noteworthy that Rosenberg et al. found that the sampled Pakistani populations are more genetically diverse than 15 Indian populations that were explicitly compared. Use of HGDP genetic materials for nonmedical purposes not agreed to by indigenous donors, especially purposes that create possibilities for human rights violations, has been

75-858: A genetic mutation with a disease; it is becoming clear that these associations are population-dependent and that understanding human diversity will be a major step toward increasing the power to find genes associated with disease. To gain a full assessment of human development , scientists must engage in diversity research. This research needs to be conducted as quickly as possible before small native populations such as those in South America become extinct. Another benefit of genomic diversity mapping would be in disease research . Diversity research could help explain why certain ethnic populations are vulnerable to or resistant to certain diseases and how populations have adapted to vulnerabilities (see race in biomedicine ). The study of human populations has been at

100-579: A map that includes genetic markers of human chromosomes using a resource of immortalised cell cultures. In his 2005 addendum to his biography for the 1980 Nobel Prize , Jean Dausset noted that, thanks to his Nobel Prize and a grant from the French Téléthon, he had been able in 1984 to create the Human Polymorphism Study Centre (CEPH), which soon after became Foundation Jean Dausset-CEPH. Dausset founded CEPH with

125-472: A matter of concern. For example, Kidd et al. described the use of DNA samples from indigenous populations to explore a forensic identification capability based on ethnic origins. Anthropologist Jonathan M. Marks stated: "As any anthropologist knows, ethnic groups are categories of human invention, not given by nature." Some indigenous peoples have refused to take part in the HGDP due to concerns about misuse of

150-464: A primary value on accuracy . In this book and in Why I Am Not a Scientist , he argues that anthropologists have an ambiguous relationship with science because their goal of illuminating the human condition requires both scientific and humanistic frameworks. In reference to the titles of his books, Marks has stated that "he would like it to be known, for the record, that he is about 98% scientist, and not

175-810: Is a resource of 1,063 cultured lymphoblastoid cell lines (LCLs) from 1,050 individuals in 52 world populations, banked at the Fondation Jean Dausset-CEPH in Paris. The HGDP is not related to the Human Genome Project (HGP) and has attempted to maintain a distinct identity. The whole genome sequencing and analysis of the HGDP was published in 2020, creating a comprehensive resource of genetic variation from underrepresented human populations and illuminating patterns of genetic variation, demographic history and introgression of modern humans with Neanderthals and Denisovans. The HGDP includes

200-413: Is a significant gap between scientists' knowledge of genetics and their understanding of its functional significance. In opposition to biological determinism , Marks explores evidence for synergy between genetic and cultural factors in shaping human traits such as body shape, school performance, athleticism, and even menstrual cycles. Marks' published works include many scholarly articles and essays. He

225-683: Is an outspoken critic of scientific racism , and has prominently argued against the idea that " race " is a natural category. In Marks's view, "race" is a negotiation between patterns of biological variation and patterns of perceived difference. He argues that race and human diversity are different subjects, and do not map on to one another well. This view is now the stated consensus of the American Association of Biological Anthropologists . As described in his book Is Science Racist? , Marks considers science to have four epistemic qualities: naturalism , experimentalism , rationalism , and

250-591: Is the project with the largest scope among the various human diversity databases available. So far 148 papers have been published using the HGDP database. Authors using HGDP data work in the US, Russia, Brazil, Ireland, Portugal, France, and other countries. More specifically, HGDP data has been used in studies of evolution and expansion of modern human populations. Diversity research is relevant in various fields of study ranging from disease surveillance to anthropology . Genomewide-association studies (GWAS) try to associate

275-582: The University of Arizona , completing his doctorate in 1984. When Marks was beginning his career, few anthropologists held degrees in genetics. The Charlotte Observer quotes him as saying, “Twenty-five years ago I was sort of avant garde. Now it’s much more common.” Marks is a leading figure in anthropology, especially when it comes to public discussions of race. His work has been praised by scholars such as Alondra Nelson , Agustín Fuentes , and Barbara J. King . Marks did post-doctoral research in

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300-612: The genetics of humans and other apes , and for his critiques of scientific racism , biological determinism , and what he argues is an overemphasis on scientific rationalism in anthropology. He is a fellow of the American Association for the Advancement of Science . Born in 1955, Marks studied at the Johns Hopkins University in Baltimore and took graduate degrees in genetics and anthropology from

325-403: The 51 populations from around the world. A description of the populations that were studied can be found in a 2005 review paper by Cavalli-Sforza: One of the most important tenets of the HGDP debate has been the social and ethical implications for indigenous populations, specifically the methods and ethics of informed consent. Some questions include: These questions are specifically addressed by

350-407: The Advancement of Science in 2006. In 2009, Santa Fe's School for Advanced Research awarded him its J. I. Staley Prize for his book What It Means to be 98% Chimpanzee: Apes, People and their Genes. In their award citation, the review panel noted that the book "is being read across anthropological disciplines" and "engages with issues directly relevant to the future of humanity." He received

375-831: The First Citizens Bank Scholars Medal in 2012, honoring his career of intellectual inquiry. Since then he has been a Templeton Fellow (2013-2014) and a Director's Fellow (2019-2020) at the University of Notre Dame 's Institute for Advanced Study, and a visiting research fellow at the Max Planck Institute for the History of Science in Berlin and at the ESRC Genomics Forum at the University of Edinburgh . Marks' 2002 book What it Means to be 98% Chimpanzee argued that there

400-502: The Foundation Jean Dausset-CEPH. 48°52′32″N 2°22′07″E  /  48.875592°N 2.368539°E  / 48.875592; 2.368539 Jonathan M. Marks J. I. Staley Prize First Citizens Bank Scholars Medal Jonathan Mitchell Marks (born February 8, 1955) is a professor of biological anthropology at the University of North Carolina at Charlotte . He is known for his work comparing

425-401: The HGDP's "Model Ethical Protocol for Collecting DNA Samples". The scientific community has used the HGDP data to study human migration, mutation rates, relationships between different populations, genes involved in height, and selective pressure. HGDP has been instrumental in assessing human diversity and in providing information about similarities and differences in human populations. The HGDP

450-705: The HGDP's goals based on perceived issues of scientific racism , colonialism , biocolonialism, and informed consent . The Action Group on Erosion, Technology and Concentration (ETC Group) has been a major critic of the HGDP, speculating that issues of racism and stigmatization could occur should the HGDP be completed. One major concern with the research project has been the potential, in certain countries, for racism resulting from use of HGDP data. Critics feel that when governments are armed with genetic data linked to certain racial groups, those governments might deny human rights based on this genetic data. For example, countries could define races purely in genetic terms and deny

475-789: The HGP and not as a separate project. A number of the principal collaborators in the HGDP have been involved in the privately funded Genographic Project launched in April 2005 with similar aims. Fondation Jean Dausset-CEPH The Fondation Jean Dausset-CEPH or CEPH , formerly the Centre d'Etude du Polymorphisme Humain (the Center for the Study of Human Polymorphisms ), is an international genetic research center located in Paris , France . It produced

500-411: The addition of numerous gene markers and made it feasible to publish the first genetic map and, later on, the first physical map of the human genome . An exhaustive study of human populations around the world has also produced important publications from CEPH. Besides this, DNA samples from sibships of people over 95 years old and a bank of centenarians now provide a valuable research resource at

525-494: The collaboration of Professors Howard Cann and Daniel Cohen. The scientific director of CEPH is currently Jean-François Deleuze and its president is François d'Aubert , a French politician, an auditor at the Cour des Comptes and a former minister delegate to research. Numerous collaborators working on the same large families as Dausset had collected for his Nobel Prize-winning studies on the human leukocyte antigen system, led to

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550-494: The concerns discussed above (regarding racism, weapons development, etc.), they would also prevent researchers from achieving many of the benefits that were to be gained from the project. Some members of the Human Genome Project (HGP) argued in favor of engaging in diversity research on data gleaned from the Human Genome Diversity Project, although most agreed that diversity research should be done by

575-627: The data: "In December [1993], a World Council of Indigenous Peoples in Guatemala repudiated the HGDP." In 1995, the National Research Council (NRC) issued its recommendations on the HGDP. The NRC endorsed the concept of diversity research, also pointing out some concerns with the HGDP procedure. The NRC report suggested alternatives such as keeping sample sources anonymous (i.e., sampling genetic data without tying it to specific racial groups). While such approaches would eliminate

600-486: The forefront of genomic and clinical research since the Human Genome Project (HGP) was completed. Projects similar to HGDP are the 1000 Genomes Project and the HapMap Project. Each has its own specificities and each has been used by scientists to a large extent for overlapping purposes. Denouncing the project since its outset, some indigenous communities , NGOs , and human rights organizations have objected to

625-601: The genetics department at UC-Davis from 1984-1987, then taught at Yale for ten years and Berkeley for three, before settling in Charlotte where he is now a professor at the University of North Carolina-Charlotte. Marks has also served on the board of directors of the Indigenous Peoples Council on Biocolonialism , Nixon, Nevada . He was elected to a fellow of the American Association for

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