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.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.
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", an encyclopaedia, scientific journal, and database in free access on the Internet (45,000 pages, of which more than 10,000 pages have been written by more than 3,000 authors, 4,500 visitors a day), the director of the database is Philippe Dessen.