Jean-Loup Huret
Jean Loup Huret (born 1951) is a French scientist and medical practitioner specialist in genetics, honorary associate professor of medical genetics of the French Universities, working on chromosome abnormalities.[1][2]
Huret 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).
Huret 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, Huret received the French distinction of "chevalier dans l’ordre national du Mérite" for his encyclopedic works.[10] He is in the Who's Who in America – Marquis Who's Who, section Medicine and Healthcare since 2002, and in Who's Who in France since 2010.[11] He received the "Albert Nelson Marquis Lifetime Achievement Award" in 2019.[12]
Huret has also been interviewed by the press[8] for his long-standing activity - more than thirty years – in painting workshops in institutions for mentally handicapped children and adults.[13]
References
- ^ "Biographie Jean-Loup Huret Chercheur, Médecin, Universitaire". whoswho.fr.
- ^ "Marquis Who's Who on Demand — Search results for "huret, jean", page 1". Archived from the original on 2016-03-03. Retrieved 2015-01-18.
- ^ 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. S2CID 1591597.
- ^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.
- ^ Brooksbank, Cath (2001). "Chopping and changing". Nature Reviews Cancer. 1 (3): 179. doi:10.1038/35106056. S2CID 29705598.
- ^ Pearson, Helen (2001). "Browsing the cancer catalogue". Nature. doi:10.1038/news010531-8.
- ^ HighBeam
- ^ a b "Archived copy" (PDF). Archived from the original (PDF) on 2014-08-20. Retrieved 2015-01-18.
{{cite web}}: CS1 maint: archived copy as title (link) - ^ "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.
- ^ "Huret in Who's Who" (PDF). atlasgeneticsoncology.org/JLHuret_Whos_Who.pdf. Archived from the original (PDF) on 2019-08-28. Retrieved 2018-03-09.
- ^ "Albert Nelson Marquis Lifetime Achievement Award 2019".
- ^ Huret JL (December 2019). "Artistic creativity and mental handicap". Atlas Genet Cytogenet Oncol Haematol. 23 (12): 359–827. doi:10.4267/2042/70617.
