Bruno Reversade

Bruno Reversade (born 1978) is an American developmental biologist and human geneticist. He is a Director of the Institute of Medical Biology at A*STAR (Singapore) and holds several faculty positions at other universities. Reversade is known for identifying mutated genes that cause Mendelian diseases in humans and for his research on the genetics of identical twins.[2][3][4]

Bruno Reversade
Born1978 (age 41–42)
CitizenshipUS
Alma materUniversity of California, Los Angeles[1]
AwardsSociety-in-Science, Branco Weiss Fellow (2007), A*STAR Investigator (2008), EMBO Young Investigators (2012)
Scientific career
FieldsMendelian Genetics, Developmental biology, Micropeptides
Institutions
Doctoral advisorEdward M. De Robertis
Other academic advisorsDavor Solter
Websitewww.reversade.com

Early life and education

Bruno Reversade was born in 1978 into a French-American family. He was raised in Grenoble (France) and Washington, D.C. (US).

Scientific career

Reversade became interested in developmental biology in 1997 when studying at the University of Western Ontario (Canada) under the tutelage of Greg Kelly.[5][6]

He earned his master's degree at the Pasteur Institute (Paris, France), where he studied head development in the mouse embryo.[5][7] He then moved to the United States to work at the HHMI laboratory of Edward M. De Robertis at the University of California, Los Angeles. There he studied the specification of the dorsal-ventral axis during vertebrate development using Xenopus embryos.[8] In 2005, Reversade and De Robertis detailed how multiple extracellular proteins allow embryos that are cut in two to self-regulate consistently.[9][10][11]

In 2006, Reversade earned his PhD from the Pierre and Marie Curie University.[12] In 2008, he received the A*STAR investigatorship (Singapore) award and set up his team in 2008 at the Institute of Medical Biology to carry out human embryology and genetic research.[12][1][13] In 2015, he became a Director at A*STAR.[14] Also in 2015, he received AAA Fellowship from the Vrije Universiteit Amsterdam and was appointed Professor of Human Genetics at the Centre for Reproductive Medicine at the University's Academic Medical Center.[15] Since 2016, Reversade is a Distinguished Professor of Human Genetics at Koç University (Turkey).[16]

Research areas

Mendelian genetics

His laboratory works on the genetic characterization and clinical description of monogenic conditions in humans.[17][18] Reversade has identified mutations responsible for progeroid syndromes in humans,[19][20] NLRP1 inflammasome-related diseases,[21][22] and self-healing cancers.[23][21] Reversade's team has identified germline mutations in the following genes to be responsible for these Mendelian diseases:

Year Mendelian disease Gene Inheritance Phenotype MIM number
2009 Cutis laxa, autosomal recessive, type IIB (wrinkly skin syndrome)[19][24] PYCR1 Recessive 614438
2010 Temtamy preaxial brachydactyly syndrome[25] CHSY1 Recessive 605282
2011 Multiple Self-healing Squamous Epithelioma (Fergurson-Smith disease)[26] TGFBR1 Dominant 132800
2012 Hamamy syndrome[27][28] IRX5 Recessive 611174
2012 Punctate palmoplantar keratoderma, type IA[23] AAGAB Recessive 148600
2014 Lissencephaly with Microcephaly 6[29] KATNB1 Recessive 616212
2015 Al-Raqad syndrome[30] DCPS Recessive 616459
2015 Dominant Cutis laxa type 3[20] ALDH18A1 Dominant 616603
2016 Multiple self-healing palmoplantar carcinoma[21][31] NLRP1 Dominant 615225
2016 X-linked syndromic mental retardation 99[32] USP9X Heterozygous 300968
2016 Primary intraosseous vascular malformation[33] ELMO2 Recessive 606893
2017 Cole disease[34] ENPP1 Recessive 615522
2017 Al Kaissi syndrome[35] CDK10 Recessive 617694
2017 Neurogenic Arthrogryposis multiplex congenita with myelin defect[36] LGI4 Recessive 617468
2017 Alkuraya-Kucinskas syndrome[37] KIAA1109 Recessive 617822
2017 Bosma arhinia microphthalmia syndrome[38] SMCHD1 Dominant 603457
2018 Mental retardation, autosomal recessive 63[39][40] CAMK2A Recessive 618095
2018 Tetraamelia syndrome with pulmonary agenesis[41][42][43] RSPO2 Recessive 618021
2019 PAPPA syndrome[44] TBX4 Recessive 601719
2020 Jamuar Syndrome[45] UGDH Recessive 603370

Developmental biology and identical twinning

Reversade's investigations in developmental biology have relied on various animal model organisms (C. elegans, Drosophila, zebrafish, Xenopus and transgenic mice) and covered such embryonic processes as neural induction,[8] limb development,[25][41][44] and various human diseases causing birth defects.[38]

In 2005, during his Ph.D. thesis in the laboratory of Edward De Robertis, the scientists published two discoveries,[9][46] pertaining to the self-regulation of an embryonic morphogenetic field mediated by the extracellular Chordin/BMP/Sizzled pathway.[10] This helped provide a molecular framework for how embryos split in two halves can develop into perfect, albeit smaller, identical twinned embryos.[47]

Reversade also researches the genetics of dizygotic and monozygotic twinning in humans.[48][5][4] He has been searching for genes responsible for monozygotic twinning from rare population isolates.[49]

Micropeptides

Reversade's research is also focused on the annotation of novel micropeptides.[50] In 2013, he discovered and patented a novel hormone named ELABELA (ELA).[50][51] This secreted circulating peptide works as an endogenous ligand for the Apelin receptor (a G protein-coupled receptor).[52][53] The genetic inactivation of ELA leads to cardiovascular defects,[54][55] predisposes to preeclampsia[56][57][58] and is needed for the self-renewal of human embryonic stem cells.[59]

Awards and recognition
gollark: It would not. The role is just in the list and I can't be bothered to check.
gollark: Found it.
gollark: It seems to be antimemetic or in the roles somewhere.
gollark: <@160279332454006795> How do I add pingable to people?
gollark: I may need to quarantine you utterly.

References
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  7. Zakin, Lise; Reversade, Bruno; Virlon, Bérangère; Rusniok, Christophe; Glaser, Philippe; Elalouf, Jean-Marc; Brûlet, Philippe (2000-12-19). "Gene expression profiles in normal and Otx2−/− early gastrulating mouse embryos". Proceedings of the National Academy of Sciences of the United States of America. 97 (26): 14388–14393. doi:10.1073/pnas.011513398. PMC 18928. PMID 11114168.
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  51. US patent 20160311880A1
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