Education, Research, Patient Care qd

Research

The Center for Human Disease Modeling (Center) develops and deploys a broad range of in vitro and in vivo tools to understand the fundamental pathomechanisms of human genetic disease. As part of that work, we have used mice, zebrafish and human cells to generate ~ 650 models of human genetic disorders, with new tools and methods to study them developed iteratively.

We have used these tools to measure the effect of genetic variation and its contribution to rare and common disease; to understand the complexity of the genetic architecture of such disorders; to dissect biochemical pathways; and to develop new drug screening paradigms. Although our studies fall under four broadly defined thematic areas, these are subject to substantial crosstalk, reflective of the overlapping interests of our faculty and of the multidisciplinary nature of our Center.