Jean-Loup Huret
Jean Loup Huret (born 1951) is a French scientist and medical practitioner specialist in genetics working at the University and University Hospital of Poitiers (France) on chromosome abnormalities.[1][2]
He has discovered the first case of Down syndrome with a normal karyotype. He proved, in collaboration with Pierre Marie Sinet's team, that it was due to a microduplication (less than 3 Mb) of DNA on chromosome 21, demonstrating that only a very few genes alteration could be responsible for most of the phenotype in a chromosome aberration syndrome.[3] From this further arose the concept of critical region in chromosome syndromes (e.g Down syndrome critical region).
He is the creator in 1997 and editor in chief of the "Atlas of Genetics and Cytogenetics in Oncology and Haematology",[4] an encyclopaedia, scientific journal, and database in free access on the Internet[5][6][7] (45,000 pages, of which more than 10,000 pages have been written by more than 3,000 authors, 4,500 visitors a day[8][9]), the director of the database is Philippe Dessen. This web site is devoted to Cancer Genetics, and provides review articles, cards and figures on genes and chromosomes alterations in all types of cancer.
In 2011, he received the French distinction of "chevalier dans l’ordre national du Mérite" for his encyclopedic works.[10]
He was also interviewed by the Press for his long lasting activity in painting with mentally deficient pupils.[8]
References
- ↑ "Biographie Jean-Loup Huret Chercheur, Médecin, Universitaire". whoswho.fr.
- ↑ https://cgi.marquiswhoswho.com/OnDemand/Default.aspx?last_name=huret&first_name=jean
- ↑ Huret JL (March 1987). "Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality". Hum Genet. 75 (3): 251–7. doi:10.1007/bf00281069. PMID 2951317.
- ↑ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.
- ↑ http://www.nature.com/nrc/journal/v1/n3/full/nrc1201-179b.html
- ↑ http://www.nature.com/news/2001/010530/full/news010531-8.html
- ↑ http://www.highbeam.com/doc/1G1-75819619.html
- 1 2 http://www.7apoitiers.fr/uploads/archives/2e2b1a843fa02bc5f22477afea878603b9fc51d2.pdf
- ↑ "L'Atlas de Jean-Loup Huret permet de sauver des vies". lanouvellerepublique.fr.
- ↑ "Ordre national du Mérite - Nominations, promotions et élévations du 14-05-2010". france-phaleristique.com.