IMB & IMCB, A*STAR, Singapore
Amsterdam UMC, Netherlands
Koç University, Turkey
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Abstract:
Over the last 10 years, a revolution in the speed and accessibility of high volume sequencing has introduced a paradigm shift in human genetics and medicine. Rare diseases – the human experiment – are now the primary tool for annotating function to the human genome.
By identifying the genes responsible for rare diseases, we are best positioned to pinpoint the subverted biological pathways which not only underlie the pathology of a specific condition but which will, in many cases, reveal biological nodes whose perturbation contributes to more common pathologies – i.e. rare begets common.
I will illustrate this paradigm by highlighting how we have gone from discovering mutations in genes controlling early organogenesis in humans to the development of therapeutic drugs for oncology indications.
Bio:
Bruno was trained as a developmental biologist in the HHMI lab of 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 Amsterdam UMC (Netherlands).