CEPH and Genethon - French Genome Research
In 1991, the French Muscular Dystrophy Foundation (AFM) and the CEPH founded the genome research institute near Paris Genethon. In its high-tech laboratories, a whole set of robots and computers are used to accelerate the exploration of human DNA. Within a few years, scientists from the two institutes were able to construct maps of the genome which are an important prerequisite for the search of specific disease genes.
When the two French institutes were established, their research concept was both unique and heavily criticized. Rather than concentrating on a single chromosome (the human genome consists of 23 pairs of different chromosomes), as most gene researchers, Cohen and Dausset wanted to map the entire human genome instead.
In the early eighties, Cohen and Dausset started out at the Centre d'Etude du Polymorphisme Humaine to establish family libraries consisting of DNA probes from large size families. To make the DNA-"file" of any individual in the collection permanently available for hereditary studies, they conserved the genetic material as immortalized white blood cells. The CEPH's data base of reference families served for the construction of a physical map, thus providing a tool for hereditary studies in humans which helps geneticists to localize a disease gene on a chromosome.
Financial aspects regarding Cohen's and Dausset's project were also a source of skepticism: Though privately funded, all data collected by the institute (which was sponsored by a wealthy collector of art) are available to scientists all over the world - free of charge. The only condition the users have to fulfil, is to report their data, obtained with DNA samples of reference families, to CEPH. The idea was to collect lots of data as quickly as possible.
In 1991, again with private initiative, the French Muscular Dystrophy Foundation (AFM) and Daniel Cohen, then head of CEPH, founded the genome research center Genethon . The AFM financed the project to map the human genome in a large, industrial style with yearly donations of several millions of French Francs. Since then, 30 scientists and one hundred technicians, of whom Dr. Jean Weissenbach is the scientific head, have worked on the construction of genome maps. These geneticists also use a whole set of robots and computers.
This week, the journal NATURE (Vol. 377, N°. 6541, 1995), published the latest version of the physical map constructed by CEPH and Genethon. This map was constructed by using microsatellite markers (as anchor points on the map) developed by Dr. Jean Weissenbach and YACs (DNA-fragments stored in yeast cells) constructed at the CEPH. The map covers more than 75 percent of the entire human genome.
In order to find human genes, geneticists both need genetic and physical maps. Genetic maps provide a clue about which genes may be linked with certain diseases. The more frequent two different genes are inherited together, the closer their positions are on a specific chromosome. Genes are first positioned on a genetic map. Once the interval, in which the gene is assumed to be located, is narrow enough, a physical map (which relates specific DNA-pieces to a position on a chromosome) is needed. By using more and more detailed maps, geneticists can find a DNA-fragment that is most likely to contain the gene of interest. Once the right piece of DNA is isolated, it can be transferred into mouse cells. Creating animal models enables geneticists to study the function of a gene-product within a living organism.
By combining genetic and physical maps, diseases caused by single gene defects can be identified fairly well. However, geneticists still face a lot of problems exploring body malfunctions relating to the interaction of many different genes (complex genetic diseases) as represented by cancer or cardiovascular.
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