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“R(e)SPONDIN’ to WNT signalling for Limb & Lung Development”


It is believed that the RSPONDIN secreted ligands primarily act via their cognate LGR4/5/6 receptors to enhance WNT signaling. Here I will reveal an allelic series of RSPO2 mutations in humans causing a spectrum of birth defects ranging from digit anomalies to Tetra-Amelia Syndrome characterized by lung aplasia and a total absence of the four limbs.

Functional studies revealed impaired LGR-binding and reduced WNT potentiation which correlated with allele severity. Surprisingly however a triple and ubiquitous knockout of Lgr4, Lgr5 and Lgr6 in mice suggested a very different interpretation.



Bruno was trained as a developmental biologist with Prof. De Robertis at UCLA. After his PhD in 2008, he was awarded the inaugural A*STAR investigatorship and set up his team at the Institute of Medical Biology in Singapore. There, he switched to human genetics, placing emphasis on monogenic, fully penetrant and unique genetic traits as a means to understand complex and common diseases.

Combining the power of Mendelian genetics, patient-derived iPSCs and animal modeling in zebrafish, Xenopus and mice, his team has resolved numerous human disorders affecting embryogenesis, metabolism, ageing, cognition and familial cancers. Some of these discoveries have been licensed or are being developed for diagnostic and therapeutic purposes.

Bruno is a Research Director at A*STAR in Singapore, a fellow of the Branco Weiss (Switzerland) and National Research Foundations (Singapore), the first EMBO Young Investigator based outside Europe, and a Professor of Genetics at KOÇ University (Turkey) and at AMC/VUmc (Netherlands).


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  • Alan Borelli

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