当前位置:首页 / 科学研究 / 实验室 / 正文

实验室

12:30-13:30, Thursday, March 29, 2018


Speaker: Bruno REVERSADE, Ph.D.

Professor

IMB & IMCB, A*STAR, Singapore

Koç University, Turkey

Topic: Rare Begets Common

Host:Ting Chen, Ph.D.

Abstract

Over the last 5 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 Mendelian 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 try to illustrate this paradigm by highlighting how we have gone from studying humans with exceptional phenotypes to developing therapeutics for unmet medical needs.