Bruno Reversade

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]

Bruno REVERSADE
Born1974 (age 48–49)
NationalityFrench
CitizenshipFrench / American
Alma materUniversity of California, Los Angeles[1]
Children>2
AwardsSociety-in-Science, Branco Weiss Fellow (2007), A*STAR Investigator (2008), EMBO Young Investigators (2012), National Research Foundation (2019)
Scientific career
FieldsMendelian Genetics, Developmental biology, Micropeptides, Hormones
Institutions

National University of Singapore

KAUST
Doctoral advisorEdward M. De Robertis
Other academic advisorsDavor Solter
Websitewww.reversade.com

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 Smart-Health Initiative Director and 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:

Year Gene Inheritance Mendelian disease Phenotype MIM number
2009 PYCR1 Recessive Cutis laxa, autosomal recessive, type IIB (wrinkly skin syndrome)[19][29] 614438
2010 CHSY1 Recessive Temtamy preaxial brachydactyly syndrome[30] 605282
2011 TGFBR1 Dominant Multiple Self-healing Squamous Epithelioma (Fergurson-Smith disease)[31] 132800
2012 IRX5 Recessive Hamamy 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 Dominant Dominant Cutis laxa type 3[20] 616603
2016 NLRP1 Dominant Multiple self-healing palmoplantar carcinoma[22][36] 615225
2016 NLRP1 Recessive familial keratosis lichenoides chronica (FKLC)[22][36] 615225
2016 USP9X Heterozygous X-linked syndromic mental retardation 99[26] 300968
2016 ELMO2 Recessive Primary intraosseous vascular malformation[37] 606893
2017 ENPP1 Recessive Cole disease[38] 615522
2017 CDK10 Recessive Al Kaissi syndrome[39] 617694
2017 LGI4 Recessive Neurogenic Arthrogryposis multiplex congenita with myelin defect[40] 617468
2017 KIAA1109 Recessive Alkuraya-Kucinskas syndrome[41] 617822
2017 SMCHD1 Dominant Bosma arhinia microphthalmia syndrome[42] 603457
2018 CAMK2A Recessive Mental 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
2019 NLRP1 Recessive Congenital juvenile recurrent respiratory papillomatosis (JRRP)[48] 618803
2020 UGDH Recessive Jamuar Syndrome[49] 603370
2020 MTX2 Recessive Mandibuloacral dysplasia progeroid syndrome[21] 619127
2020 NUAK2 Recessive Anencephaly 2[50] 619452
2021 C2orf69 Recessive Elbracht-Işikay Syndrome[51] 619423
2021 WLS Recessive Zaki Syndrome[52] 619648
2021 CIROP Recessive Visceral heterotaxy-12 (HTX12)[53][54] 619702
2022 DPP9 Recessive Hatipoğlu syndrome[55] 608258
2022 FOCAD Recessive Severe Liver congenital disease[56] 619991
2022 TMEM147 Recessive Neurodevelopmental disorder with facial dysmorphism & absent language[57] 620075
2023 TAPT1 Recessive Lethal Osteochondrodysplasia[58] 616897
2023 DRG1 Recessive Neurodevelopmental disorder[59] 603952
2023 RAF1 Recessive Progeroid 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]

  • ELABELA In 2013, he discovered and patented a novel hormone named Elabela (ELA).[67][68] This secreted circulating peptide works as an endogenous ligand for the Apelin receptor (a G protein-coupled receptor).[69][70] The genetic inactivation of ELA leads to cardiovascular defects,[71][72] predisposes to preeclampsia[73][74][75] and is needed for the self-renewal of human embryonic stem cells.[76] Analogues of Elabela have entered clinical trials by Amgen.[77]
  • BRAWNIN In 2020, he participated in the characterization of C12orf73, a protein-coding gene responsible for the making of a 71 amino-acid peptide called BRAWNIN. This small peptide is essential for respiratory chain complex III (CIII) assembly in human cells and zebrafish.[78]
  • C2orf69 In 2021, together with I. Kurth and colleagues,[51][27] his team identified a fatal syndrome caused by the homozygous inactivation of C2orf69. This gene codes for a 385 amino-acid peptide which can be secreted or associated with mitochondria. C2ORF69 possesses homology to esterase/lipase enzymes.[51]

Awards and recognition

References
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