Bruno Reversade

Last updated
Bruno REVERSADE
Born1974 (age 49–50)
NationalityFrench
CitizenshipFrench / American
Alma mater University of California, Los Angeles [1]
Children4
AwardsSociety-in-Science, Branco Weiss Fellow (2007), A*STAR Investigator (2008), EMBO Young Investigators (2012), National Research Foundation (2019)
Scientific career
Fields Mendelian Genetics, Developmental biology, Micropeptides, Hormones
Institutions

National University of Singapore

KAUST
Doctoral advisor Edward M. De Robertis
Other academic advisors Davor Solter
Website www.reversade.com

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

Contents

Early life and education

Bruno Reversade was born in 1974 into a French-American family. He was raised in Grenoble (France) and Washington, D.C. (US). Bruno Reversade studied at the University Joseph Fourier, Pierre and Marie Curie University and UCLA.

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] In 2023, Reversade became a bioscience Professor at KAUST in the Kingdom of Saudi Arabia.

Research areas

Mendelian genetics

Reversade's team works on the genetic characterization and clinical description of inherited conditions in humans. [17] [18]

They have identified mutations responsible for progeroid syndromes in humans, [19] [20] [21] NLRP1 inflammasome-related diseases, [22] [23] [24] self-healing cancers [25] [22] and numerous diseases causing birth defects [26] [27] [28]

Reversade's group has identified the following genes to be responsible for novel Mendelian diseases:

YearGeneInheritanceMendelian diseasePhenotype MIM number
2009 PYCR1 RecessiveCutis laxa, autosomal recessive, type IIB (wrinkly skin syndrome) [19] [29] 614438
2010 CHSY1 RecessiveTemtamy preaxial brachydactyly syndrome [30] 605282
2011 TGFBR1 DominantMultiple Self-healing Squamous Epithelioma (Fergurson-Smith disease) [31] 132800
2012 IRX5 RecessiveHamamy syndrome [32] [33] 611174
2012 AAGAB Recessive Punctate palmoplantar keratoderma, type IA [25] 148600
2014 KATNB1 Recessive Lissencephaly with Microcephaly 6 [34] 616212
2015 DCPS Recessive Al-Raqad syndrome [35] 616459
2015 ALDH18A1 DominantDominant Cutis laxa type 3 [20] 616603
2016 NLRP1 DominantMultiple self-healing palmoplantar carcinoma [22] [36] 615225
2016 NLRP1 Recessivefamilial keratosis lichenoides chronica (FKLC) [22] [36] 615225
2016 USP9X HeterozygousX-linked syndromic mental retardation 99 [26] 300968
2016 ELMO2 RecessivePrimary intraosseous vascular malformation [37] 606893
2017 ENPP1 RecessiveCole disease [38] 615522
2017 CDK10 RecessiveAl Kaissi syndrome [39] 617694
2017 LGI4 RecessiveNeurogenic Arthrogryposis multiplex congenita with myelin defect [40] 617468
2017 KIAA1109 RecessiveAlkuraya-Kucinskas syndrome [41] 617822
2017 SMCHD1 DominantBosma arhinia microphthalmia syndrome [42] 603457
2018 CAMK2A RecessiveMental retardation, autosomal recessive 63 [43] [44] 618095
2018 RSPO2 Recessive Tetraamelia syndrome with pulmonary agenesis [28] [45] [46] 618021
2019 TBX4 Recessive PAPPA syndrome [47] 601719
2019NLRP1RecessiveCongenital juvenile recurrent respiratory papillomatosis (JRRP) [48] 618803
2020 UGDH RecessiveJamuar Syndrome [49] 603370
2020MTX2RecessiveMandibuloacral dysplasia progeroid syndrome [21] 619127
2020 NUAK2 Recessive Anencephaly 2 [50] 619452
2021C2orf69RecessiveElbracht-Işikay Syndrome [51] 619423
2021WLSRecessiveZaki Syndrome [52] 619648
2021CIROPRecessiveVisceral heterotaxy-12 (HTX12) [53] [54] 619702
2022 DPP9 RecessiveHatipoğlu syndrome [55] 608258
2022FOCADRecessiveSevere Liver congenital disease [56] 619991
2022TMEM147RecessiveNeurodevelopmental disorder with facial dysmorphism & absent language [57] 620075
2023TAPT1RecessiveLethal Osteochondrodysplasia [58] 616897
2023DRG1RecessiveNeurodevelopmental disorder [59] 603952
2023RAF1RecessiveProgeroid disease [60] 164760

Developmental biology and 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, [30] [28] [47] and various human diseases causing birth defects. [42] [50] [52]

In 2005, during his Ph.D. thesis in the laboratory of Edward De Robertis, the scientists published two discoveries, [9] [61] 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. [62]

Reversade also researches the genetics of dizygotic and monozygotic twinning in humans. [63] [5] [4] He has been searching for genes responsible for monozygotic (MZ) twinning from rare population isolates. [64]

In 2021, together with the VU Amsterdam, his group revealed that MZ twins harbor an epigenetic signature in their somatic tissue even decades after their birth. [65] This stable DNA mark could be employed to retrospectively assess if a person is a MZ twin even if his/her co-twin vanished in utero. [66]

Hormones and Micropeptides

Reversade's research has also pioneered the annotation of novel micropeptides. [67]

Awards and recognition

Related Research Articles

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  2. ↑ Segal, Nancy L. (2017). Twin Mythconceptions: False Beliefs, Fables, and Facts about Twins. Academic Press. p. 54. ISBN   978-0-12-803994-6 – via Google Books.
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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. Bibcode:2000PNAS...9714388Z. doi: 10.1073/pnas.011513398 . PMC   18928 . PMID   11114168.
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  36. 1 2 Boh, Samantha (2016-11-02). "Singapore team sheds light on what causes skin cancer". The Straits Times . Archived from the original on 2016-11-02. Retrieved 2019-12-15.
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  39. ↑ Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; et al. (2017-09-07). "CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays". American Journal of Human Genetics . 101 (3): 391–403. doi:10.1016/j.ajhg.2017.08.003. PMC   5591019 . PMID   28886341.
  40. ↑ Xue, Shifeng; Maluenda, Jérôme; Marguet, Florent; et al. (2017-04-06). "Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita". American Journal of Human Genetics . 100 (4): 659–665. doi:10.1016/j.ajhg.2017.02.006. PMC   5384038 . PMID   28318499.
  41. ↑ Gueneau, Lucie; Fish, Richard J.; Shamseldin, Hanan E.; et al. (2018-01-04). "KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis". American Journal of Human Genetics . 102 (1): 116–132. doi:10.1016/j.ajhg.2017.12.002. PMC   5777449 . PMID   29290337.
  42. 1 2 Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; et al. (2017-01-09). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nature Genetics . 49 (2): 249–255. doi:10.1038/ng.3765. PMID   28067911. S2CID   205353193.
  43. ↑ Chia, Poh Hui; Zhong, Franklin Lei; Niwa, Shinsuke; et al. (2018-05-22). "A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability". eLife . 7. doi: 10.7554/eLife.32451 . PMC   5963920 . PMID   29784083.
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