Jean Loup Huret (born 1951) is a French

scientist A scientist is a person who conducts scientific research to advance knowledge in an area of the natural sciences. In classical antiquity, there was no real ancient analog of a modern scientist. Instead, philosophers engaged in the philosoph ...

and medical practitioner specialist in

genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...

, honorary associate professor of medical genetics of the French Universities, working on

chromosome abnormalities A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where ther ...

. Huret has discovered the first case of

Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...

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 genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological pr ...

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 The Atlas of Genetics and Cytogenetics in Oncology and Haematology, created in 1997 by Jean-Loup Huret (with bioinformatics by Philippe Dessen) is a collection of resources on genes, Chromosome abnormality, chromosomes anomalies, leukemias, solid ...

", an

encyclopaedia An encyclopedia (American English) or encyclopædia (British English) is a reference work or compendium providing summaries of knowledge either general or special to a particular field or discipline. Encyclopedias are divided into articles ...

, scientific journal, and

database In computing, a database is an organized collection of data stored and accessed electronically. Small databases can be stored on a file system, while large databases are hosted on computer clusters or cloud storage. The design of databases s ...

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. This web site is devoted to Cancer Genetics, and provides review articles, cards and figures on genes and

chromosomes A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

alterations in all types of

cancer Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...

. In 2011, Huret received the French distinction of "chevalier dans l’ordre national du Mérite" for his encyclopedic works. 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. He received the "Albert Nelson Marquis Lifetime Achievement Award" in 2019. Huret has also been interviewed by the press for his long-standing activity - more than thirty years - in painting workshops in institutions for mentally handicapped children and adults.

References

{{DEFAULTSORT:Huret, Jean-Loup 1951 births Living people French geneticists