Research Projects

We aim to gain new insights into fundamental biological processes and disease mechanisms through the study of human genetic disorders.

Though our starting point is the identification of new human disease genes, our major focus is on defining the functional role of the proteins they encode  in patient cells and model organisms. We wish to place disease genes into cellular pathways and obtain mechanistic insights into the biological processes they act in.

Our research has two major themes:

Our research is multidisciplinary, and combines molecular genetics, biochemistry, structural biology, immunology and cell biology. We work on patient cells, Drosophila, zebrafish and mouse models.