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The Center for the Study of Human Polymorphism (CEPH)/ foundation Jean Dausset was created in 1984 by Professor Jean Dausset (Nobel Prize in Medicine 1980) and his collaborators: Professors Daniel Cohen and Howard Cann , and Doctor Mark Lathrop. The Jean Dausset Foundation - Center for the Study of Human Polymorphism participates in national and international research efforts to better determine the role of genetic polymorphism in humans, especially in complex diseases, in order to better understand them, diagnose them and participate in Development of a personalized medicine. Aim of the foundation is to identify genes involved in these diseases, to customize the treatment of patients affected by certain pathologies and to limit their side effects and to participate in the building of scientific networks, the development of new technologies, ethical reflections, medical training and interaction with biotechnology companies.
Research achievements of CEPH include genetic mapping program in 1990, first genetic map of a human chromosome, chromosome 20, constructed with microsatellites in 1992, and first physical map of the human genome in 1993, identification of the first gene responsible for a multifactorial disease, the CARD15 gene involved in Crohns disease in 2001 and to recent one in 2014 sequencing of the Neanderthal man genome. The CEPH biobank is a large-scale Biological Resource Center (CRB) that receives human samples, fresh or frozen blood, tissues, cell pellets, sera or plasma, cell lines, oral specimens or DNA to store and / or transform Biological materials, with a view to research projects and immediate or subsequent distribution to collaborators.
The main collections are 60 CEPH reference families, which have enabled the construction of genetic maps and are included for some in the HapMap panel. These DNAs from large families, comprising 41 grandparents and an average of more than 8 children, have been distributed by the CEPH since 1985. A total of 91 trios (including the Hapmap trios) are also distributed. The CEPH family reference panel contributed to the publication of nearly 200 publications. Since 2003 the genetic diversity study panel HGDP-CEPH made available to the scientific community.
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