The Advanced Center for Translational and Genetic Medicine (ACT-GeM) utilizes biological and bioinformatic tools to identify and interpret human genetic variation; to understand the fundamental pathomechanisms of human genetic disease; and to develop novel therapeutic modalities. Grounded on two decades of experience using in vivo and in vitro assays to model human genetic phenomena, we employ cell, zebrafish and mouse models with scalable cutting-edge tools. To date, we have modeled variants in >800 genes, with aspirations of saturating our knowledge of the morbid human genome. 

We have used our toolkit to support the candidacy of novel contributors to rare and common disease; to measure the effect of genetic variation in cell- and tissue-specific contexts; to understand genetic architecture in terms of cis- and trans-compensatory events; to dissect biochemical pathways; and to develop new therapeutic targets. Although our studies fall under three broadly defined thematic areas, these are subject to substantial crosstalk, reflective of the overlapping interests of our faculty and of the multidisciplinary nature of ACT-GeM.