Human Embryology

Human Embryology

embryo, twinning, cloning, human, development, birth defects, genetic diseases, ethics

Principal Investigator

Group members

Senior Research Fellow: Nathalie BEILLARD
Research Fellow: TIAN Jing
Research Officer: Serene CHNG
PhD Student: BONNARD, Carine
MD-PhD Student: KO Kwan Ki, Karrie (Duke-NUS)

Our Research

The laboratory of Dr. Bruno Reversade investigates human embryonic development and its associated genetic diseases. By addressing rare human pedigrees his group examines inherited disorders that produce birth defects or remarkable events such as the making of identical twins.

To understand the principles that govern normal embryogenesis in the human species, our lab researches genetic diseases that cause congenital birth defects or unusual phenotypes.

We take advantage of rare human pedigrees from highly consanguineous populations to characterize novel genes whose mutations affect the development of the human embryo. Following fine genetic mapping and sequencing, we undertake a functional analysis by using a variety of animal models (such as flies, frogs, fish and mice) and tools from molecular biology and biochemistry. In so doing, we hope to gain a clear mechanistic explanation of the fundamental processes underlying disease states and normal human embryonic development.

We have a particular interest in unraveling the genetic basis of identical twinning in humans. Identical twins also referred to as monozygotic (MZ) arise once every 300 births when a single human embryo splits in two giving birth to a pair of monoclonal babies. Ongoing work, based on families with multiple incidences of MZ twins suggests that the birth of natural human reproductive clones may be under genetic control.

We also aim to elucidate the aetiology of novel or uncharacterized human genetic diseases. In collaboration with Jordanian clinicians we are actively pursuing the defective gene responsible for the Wrinkly Skin Syndrome, an autosomal recessive disease causing premature skin ageing.

For more information visit our Lab’s website: www.reversade.com

Representative Publications

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 41(9):1016-21.

Abreu, J. G., Ketpura, N. I., Reversade, B., and De Robertis, E. M. (2002). Connective-tissue growth factor (CTGF) modulates cell signalling by BMP and TGF-β. Nat Cell Biol 4, 599-604.

Oelgeschläger, M., Kuroda, H., Reversade, B., and De Robertis, E. M. (2003a). Chordin is required for the Spemann organizer transplantation phenomenon in Xenopus embryos. Dev Cell 4, 219-230.

Kuroda, H., Fuentealba, L., Ikeda, A., Reversade, B., and De Robertis, E. M. (2005). Default neural induction: neuralization of dissociated Xenopus cells is mediated by Ras/MAPK activation. Genes Dev 19, 1022-1027.

Reversade, B., Kuroda, H., Lee, H., Mays, A., and De Robertis, E. M. (2005). Depletion of Bmp2, Bmp4, Bmp7 and Spemann organizer signals induces massive brain formation in Xenopus embryos. Development 132, 3381-3392.

Reversade, B., and De Robertis, E. M. (2005). Regulation of Admp and Bmp2/4/7 at Opposite Embryonic Poles Generates a Self-Regulating Morphogenetic Field. Cell 123, 1147-1160.

Kimelman, D. and Pyati, U. J. (2005). Bmp Signaling: Turning a Half into a Whole. Cell 123, 982-984.

Lee, X. H., Ambrosio, L. A., Reversade, B., and De Robertis, E. M. (2006). Embryonic Dorsal-Ventral Signaling: Secreted Frizzled-Related Protein as Inhibitor of Tolloid Proteinases. Cell 124, 147-159.

Sanders, V., Reversade, B., and De Robertis, E. M. (2007). The opposing homeobox genes Goosecoid and Vent1/2 self-regulate Xenopus patterning. EMBO J. 26 :2955-65.

汉语 Malay