Stanislas Lyonnet is a
French geneticist. As of 2012 he was Professor of genetics at
Paris Descartes University
Paris Descartes University (french: Université Paris 5 René Descartes, links=no), also known as Paris V, was a French public university located in Paris. It was one of the inheritors of the historic University of Paris, which was split into 13 ...
, and a clinical geneticist in the Department of Medical Genetics at the
Hôpital Necker - Enfants Malades. His research is aimed at isolating the genes that cause congenital malformation and birth defects.
Biography
Lyonnet studied Paediatrics and Genetics at the
Pierre-and-Marie-Curie University
Pierre and Marie Curie University (french: link=no, Université Pierre-et-Marie-Curie, UPMC), also known as Paris 6, was a public research university in Paris, France, from 1971 to 2017. The university was located on the Jussieu Campus in the L ...
. He obtained his Doctorate in Medicine, specializing in Pediatrics, in 1989.
He obtained a Master of Science degree from the
Institut Cochin and a PhD in Genetics from Necker in 1992.
In 1995 he was made a Full Professor in the Genetic Department of the Paris Descartes Medical School.
He was responsible for the Rare Disease Research Program of the French national agency for research (ANR).
Lyonnet has been a member of the board of the
European Society of Human Genetics
The European Society of Human Genetics (ESHG) is a non-profit organization that promotes research, facilitates communication and encourages best practice in applications of human and medical genetics, particularly in Europe.
The society organizes t ...
and its scientific program committee.
He is a section editor of the ''
European Journal of Human Genetics
The ''European Journal of Human Genetics'' is a monthly peer-reviewed scientific journal published by the Nature Publishing Group on behalf of the European Society of Human Genetics. It covers all aspects of human genetics.
Abstracting and inde ...
'',
and is on the editorial boards of ''
Human Molecular Genetics
''Human Molecular Genetics'' is a semimonthly peer reviewed scientific journal published by the Oxford University Press. It covers all topics related to human molecular genetics. In addition, two "special review" issues are published each year. ...
'' and ''
Clinical Dysmorphology''.
He teaches in the European Master of Genetics program at the Paris Descartes and Paris Diderot universities.
He is also a member of the
INSERM Scientific Advisory Board.
Research
In 2007, he created the ''Laboratoire International Associé Franco-Marocain of Genetics'', co-directed by Professor Abdelaziz Sefiani of the
University of Rabat
Mohammed V University (, french: Université Mohammed-V de Rabat), in Rabat, Morocco, was founded in 1957 under a royal decree ( Dahir). It is the first modern university in Morocco after the University of al-Qarawiyyin in Fez.
History
The uni ...
Medical School in Morocco. He is principal investigator and leader of the
Institut National de la Santé et de la Recherche Médicale group on "Genetics and embryology of congenital malformations".
This group is a founding member of the Imagine Foundation (Institut des Maladies Génétiques).
His research team at Imagine focuses on forms of
neurocristopathy
Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. The term was coined by Robert P. Bolande in 1974.
After th ...
and fetal syndromes that result from abnormal development of primary cilium and planar polarity.
In 2009 INSERM awarded him a prize for his research.
Publications
A selection of Lyonnet's publications:
*Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Begeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000, 26 : 332-5.
*Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A 2000, 97 : 268-73.
*Bolk S*, Salomon R* (* : equal contribution), Pelet A, Angrist M, Amiel J, Fornage, Attié-Bitach T, Olson JM, Steffann J, Hofstra R, Buys C, Munnich A, Lyonnet S, Chakravarti A. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002, 31: 89-93.
*Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Polyalanine expansion and frame shift mutations of the paired-lik homeobox gene PHOX2B in congenital central hypoventilation syndrome (Ondine’s curse). Nat Genet 2003, 33: 459-461.
*Trochet D, Bourdeault F, Janoueix I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J.
Germline mutation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mu ...
of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 2004, 74: 761-4.
*Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2005, 76: 421-6.
*Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attie-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet. 2007 Apr;39(4):454-6.
*Thomas S, Thomas M, Wincker P, Babarit C, Xu P-T, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC. Human neural crest cells share a complex molecular signature with embryonic stem cells. Hum Mol Genet 2008, 17: 3411-25.
*Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MN, Picard A, Temple I, Thomas P, Vazquez MP, Vekemans M, Roest-Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, FitzPatrick D, Lyonnet S. Disruption of very distant highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence. Nat Genet 2009, 41: 359-64.
*Putoux A, Thomas S, et al. Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet 2011, in press.
References
Citations
Sources
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{{DEFAULTSORT:Lyonnet, Stanislas
Living people
French geneticists
Year of birth missing (living people)