Bruno Reversade (born 1978) is an American human geneticist and

developmental biologist Developmental biology is the study of the process by which animals and plants grow and develop. Developmental biology also encompasses the biology of regeneration, asexual reproduction, metamorphosis, and the growth and differentiation of stem c ...

. He is a Director of the Institute of Molecular and Cellular Biology and the

Genome Institute of Singapore The Agency for Science, Technology and Research (A*STAR) is a statutory board under the Ministry of Trade and Industry of Singapore. The agency supports R&D that is aligned to areas of competitive advantage and national needs for Singapore. ...

A*STAR The Agency for Science, Technology and Research (A*STAR) is a statutory board under the Ministry of Trade and Industry of Singapore. The agency supports R&D that is aligned to areas of competitive advantage and national needs for Singapore ...

(

Singapore Singapore (), officially the Republic of Singapore, is a sovereign island country and city-state in maritime Southeast Asia. It lies about one degree of latitude () north of the equator, off the southern tip of the Malay Peninsula, borde ...

) 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.

Early life and education

Bruno Reversade was born in 1974 into a French-American family. He was raised in

Grenoble lat, Gratianopolis , commune status = Prefecture and commune , image = Panorama grenoble.png , image size = , caption = From upper left: Panorama of the city, Grenoble’s cable cars, place Saint- ...

(

France France (), officially the French Republic ( ), is a country primarily located in Western Europe. It also comprises of Overseas France, overseas regions and territories in the Americas and the Atlantic Ocean, Atlantic, Pacific Ocean, Pac ...

) and

Washington, D.C. ) , image_skyline = , image_caption = Clockwise from top left: the Washington Monument and Lincoln Memorial on the National Mall, United States Capitol, Logan Circle, Jefferson Memorial, White House, Adams Morgan, ...

( US). Bruno Reversade studied at the

University Joseph Fourier Joseph Fourier University (UJF, french: Université Joseph Fourier, also known as Grenoble I) was a French university situated in the city of Grenoble and focused on the fields of sciences, technologies and health. It is now part of the Universit ...

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 university, public research university in Paris, France, from 1971 to 2017. The university was located on the Jussi ...

and

UCLA The University of California, Los Angeles (UCLA) is a public land-grant research university in Los Angeles, California. UCLA's academic roots were established in 1881 as a teachers college then known as the southern branch of the California St ...

Scientific career

Reversade became interested in

developmental biology Developmental biology is the study of the process by which animals and plants grow and develop. Developmental biology also encompasses the biology of Regeneration (biology), regeneration, asexual reproduction, metamorphosis, and the growth and di ...

in 1997 when studying at the

University of Western Ontario The University of Western Ontario (UWO), also known as Western University or Western, is a Public university, public research university in London, Ontario, London, Ontario, Canada. The main campus is located on of land, surrounded by resident ...

(

Canada Canada is a country in North America. Its ten provinces and three territories extend from the Atlantic Ocean to the Pacific Ocean and northward into the Arctic Ocean, covering over , making it the world's second-largest country by tot ...

) under the tutelage of Greg Kelly. He earned his master's degree at the

Pasteur Institute The Pasteur Institute (french: Institut Pasteur) is a French non-profit private foundation dedicated to the study of biology, micro-organisms, diseases, and vaccines. It is named after Louis Pasteur, who invented pasteurization and vaccines f ...

(

Paris Paris () is the capital and most populous city of France, with an estimated population of 2,165,423 residents in 2019 in an area of more than 105 km² (41 sq mi), making it the 30th most densely populated city in the world in 2020. S ...

), where he studied head development in the mouse embryo. He then moved to the United States to work at the

HHMI The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization based in Chevy Chase, Maryland. It was founded in 1953 by Howard Hughes, an American business magnate, investor, record-setting pilot, engineer, fi ...

laboratory of Edward M. De Robertis at the

University of California, Los Angeles The University of California, Los Angeles (UCLA) is a public land-grant research university in Los Angeles, California. UCLA's academic roots were established in 1881 as a teachers college then known as the southern branch of the California St ...

. There he studied the specification of the dorsal-ventral axis during vertebrate development using

Xenopus ''Xenopus'' () (Gk., ξενος, ''xenos''=strange, πους, ''pous''=foot, commonly known as the clawed frog) is a genus of highly aquatic frogs native to sub-Saharan Africa. Twenty species are currently described within it. The two best-known ...

embryos. In 2005, Reversade and De Robertis detailed how multiple extracellular proteins allow embryos that are cut in two to self-regulate consistently. In 2006, Reversade earned his PhD from the

. In 2008, he received the

investigatorship (

) award and set up his team in 2008 at the Institute of Medical Biology to carry out human embryology and genetic research. In 2015, he became a Director at A*STAR. Also in 2015, he received AAA Fellowship from the

Vrije Universiteit Amsterdam The Vrije Universiteit Amsterdam (abbreviated as ''VU Amsterdam'' or simply ''VU'' when in context) is a public research university in Amsterdam, Netherlands, being founded in 1880. The VU Amsterdam is one of two large, publicly funded research ...

and was appointed Professor of Human Genetics at the Centre for Reproductive Medicine at the university's Academic Medical Center. Since 2016, Reversade is a Distinguished Professor of Human Genetics at

Koç University Koç University ( tr, Koç Üniversitesi) is a non-profit private university in Istanbul, Turkey. It started education in temporary buildings in İstinye in 1993, and moved to its current Rumelifeneri campus near Sarıyer in 2000. Koç University ...

(

Turkey Turkey ( tr, Türkiye ), officially the Republic of Türkiye ( tr, Türkiye Cumhuriyeti, links=no ), is a list of transcontinental countries, transcontinental country located mainly on the Anatolia, Anatolian Peninsula in Western Asia, with ...

Research areas

Mendelian genetics

Reversade's team works on the genetic characterization and clinical description of inherited conditions in humans. They has identified mutations responsible for progeroid syndromes in humans,

NLRP1 NLRP1 encodes NACHT, LRR, FIIND, CARD domain and PYD domains-containing protein 1 in humans. NLRP1 was the first protein shown to form an inflammasome. Material was copied from this source, which is available under Creative Commons Attribution 4. ...

inflammasome Inflammasomes are cytosolic multiprotein oligomers of the innate immune system responsible for the activation of inflammatory responses. Activation and assembly of the inflammasome promotes proteolytic cleavage, maturation and secretion of pro-in ...

-related diseases, and self-healing cancers. Reversade's group has identified the following mutated genes to be responsible for novel

Mendelian diseases A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

Developmental biology and Twinning

Reversade's investigations in

have relied on various animal

model organism A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...

s (''

C. elegans ''Caenorhabditis elegans'' () is a free-living transparent nematode about 1 mm in length that lives in temperate soil environments. It is the type species of its genus. The name is a blend of the Greek ''caeno-'' (recent), ''rhabditis'' (r ...

'', ''

Drosophila ''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species ...

'',

zebrafish The zebrafish (''Danio rerio'') is a freshwater fish belonging to the minnow family ( Cyprinidae) of the order Cypriniformes. Native to South Asia, it is a popular aquarium fish, frequently sold under the trade name zebra danio (and thus often ...

, ''

'' and

transgenic mice A genetically modified mouse or genetically engineered mouse model (GEMM) is a mouse (''Mus musculus'') that has had its genome altered through the use of genetic engineering techniques. Genetically modified mice are commonly used for research or ...

) and covered such embryonic processes as neural induction,

limb development Limb development in vertebrates is an area of active research in both developmental and evolutionary biology, with much of the latter work focused on the transition from fin to limb. Limb formation begins in the morphogenetic limb field, as mes ...

, and various human diseases causing

birth defect A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

s. In 2005, during his Ph.D. thesis in the laboratory of Edward De Robertis, the scientists published two discoveries, pertaining to the self-regulation of an embryonic

morphogenetic field In the developmental biology of the early twentieth century, a morphogenetic field is a group of cells able to respond to discrete, localized biochemical signals leading to the development of specific morphological structures or organs. The spa ...

mediated by the extracellular Chordin/ BMP/Sizzled pathway. This helped provide a molecular framework for how embryos split in two halves can develop into perfect, albeit smaller, identical twinned embryos. Reversade also researches the genetics of

dizygotic Twins are two offspring produced by the same pregnancy.MedicineNet > Definition of TwinLast Editorial Review: 19 June 2000 Twins can be either ''monozygotic'' ('identical'), meaning that they develop from one zygote, which splits and forms two em ...

and

monozygotic twinning Twins are two offspring produced by the same pregnancy.MedicineNet > Definition of TwinLast Editorial Review: 19 June 2000 Twins can be either ''monozygotic'' ('identical'), meaning that they develop from one zygote, which splits and forms two em ...

in humans. He has been searching for genes responsible for monozygotic (MZ) twinning from rare population isolates. In 2021, together with the VU Amsterdam, his group revealed that MZ twins harbor an

epigenetic In biology, epigenetics is the study of stable phenotypic changes (known as ''marks'') that do not involve alterations in the DNA sequence. The Greek prefix '' epi-'' ( "over, outside of, around") in ''epigenetics'' implies features that are "o ...

signature in their

somatic Somatic may refer to: * Somatic (biology), referring to the cells of the body in contrast to the germ line cells ** Somatic cell, a non-gametic cell in a multicellular organism * Somatic nervous system, the portion of the vertebrate nervous sys ...

tissue even decades after their birth. 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.

Hormones and Micropeptides

Reversade's research has also pioneered the annotation of novel

micropeptide Micropeptides (also referred to as microproteins) are polypeptides with a length of less than 100-150 amino acids that are encoded by short open reading frames (sORFs). In this respect, they differ from many other active small polypeptides, which ...

s. *

ELABELA ELABELA (ELA, Apela, Toddler) is a hormonal peptide that in humans is encoded by the ''APELA'' gene. Elabela is one of two endogenous ligands for the G-protein-coupled APLNR receptor. Ela is secreted by certain cell types including human embryo ...

In 2013, he discovered and patented a novel

hormone A hormone (from the Greek participle , "setting in motion") is a class of signaling molecules in multicellular organisms that are sent to distant organs by complex biological processes to regulate physiology and behavior. Hormones are required ...

named

Elabela ELABELA (ELA, Apela, Toddler) is a hormonal peptide that in humans is encoded by the ''APELA'' gene. Elabela is one of two endogenous ligands for the G-protein-coupled APLNR receptor. Ela is secreted by certain cell types including human embryo ...

(ELA). This secreted circulating peptide works as an endogenous

ligand In coordination chemistry, a ligand is an ion or molecule (functional group) that binds to a central metal atom to form a coordination complex. The bonding with the metal generally involves formal donation of one or more of the ligand's electr ...

for the

Apelin receptor The Apelin Receptor (APLNR, also known as APJ) is a G protein-coupled receptor. APLNR possesses two endogenous ligands which are APELIN Apelin (also known as APLN) is a peptide that in humans is encoded by the ''APLN'' gene. Apelin is one of t ...

G protein-coupled receptor G protein-coupled receptors (GPCRs), also known as seven-(pass)-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptors, and G protein-linked receptors (GPLR), form a large group of evolutionarily-related p ...

). The genetic inactivation of ELA leads to

cardiovascular The blood circulatory system is a system of organs that includes the heart, blood vessels, and blood which is circulated throughout the entire body of a human or other vertebrate. It includes the cardiovascular system, or vascular system, tha ...

defects, predisposes to

preeclampsia Pre-eclampsia is a disorder of pregnancy characterized by the onset of high blood pressure and often a significant amount of protein in the urine. When it arises, the condition begins after 20 weeks of pregnancy. In severe cases of the disease ...

and is needed for the self-renewal of human

embryonic stem cell Embryonic stem cells (ESCs) are pluripotent stem cells derived from the inner cell mass of a blastocyst, an early-stage pre- implantation embryo. Human embryos reach the blastocyst stage 4–5 days post fertilization, at which time they consi ...

s. Analogues of Elabela have entered clinical trials by

Amgen Amgen Inc. (formerly Applied Molecular Genetics Inc.) is an American multinational biopharmaceutical Corporation, company headquartered in Thousand Oaks, California. One of the world's largest independent biotechnology companies, Amgen was esta ...

. * 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 Complex commonly refers to: * Complexity, the behaviour of a system whose components interact in multiple ways so possible interactions are difficult to describe ** Complex system, a system composed of many components which may interact with each ...

(CIII) assembly in human cells and zebrafish. *C2orf69 In 2021, together with I. Kurth and colleagues, 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.

Awards and recognition

* Society-in-Science

Branco Weiss Branco Weiss (23 April 1929 in Zagreb, Yugoslavia – 31 October 2010 in Zurich, Switzerland) was a Swiss entrepreneur and patron. Life Weiss was born into a Jewish family from the Austrian province Burgenland which had settled in Croatia. ...

Fellowship (2007),

ETH Zurich (colloquially) , former_name = eidgenössische polytechnische Schule , image = ETHZ.JPG , image_size = , established = , type = Public , budget = CHF 1.896 billion (2021) , rector = Günther Dissertori , president = Joël Mesot , ac ...

; * Inaugural A*STAR Investigatorship award (2008), Agency for Science, Technology and Research; * EMBO Young Investigator award (2012),

European Molecular Biology Organization The European Molecular Biology Organization (EMBO) is a professional, non-profit organization of more than 1,800 life scientists. Its goal is to promote research in life science and enable international exchange between scientists. It co-funds cour ...

; * AAA Fellow (2015),

; * Senior NRF Investigator (2018), National Research Foundation,

Government of Singapore The Government of Singapore is defined by the Constitution of Singapore to mean the executive branch of the state, which is made up of the president and the Cabinet. Although the president acts in their personal discretion in the exercise ...

References

External links

Official web site
{{DEFAULTSORT:Reversade, Bruno 1978 births Living people American people of French descent American embryologists American geneticists Developmental biologists Vrije Universiteit Amsterdam faculty Koç University faculty Pierre and Marie Curie University alumni American expatriates in the Netherlands American expatriates in Turkey 21st-century American biologists American expatriates in Singapore American expatriate academics American expatriates in France