Our goal is to elucidate the genetic and developmental basis of congenital malformations. Previous and current work indicates that this can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11 casuing DiGeorge syndrome is the greatest known genetic risk factor for schizophrenia. Clinical and diagnosis and prognosis can be improved, and in some cases there is the prospect of new therapeutic intervention. Two genes under investigation (Tbx1 and Hira) have roles in progenitor or stem cell populations.

The tools used include creation and analysis of models in mouse and zebrafish. We explore novel methods of imaging the phenotypes observed (in collaboration with UCL's CABI). In humans, genetic approaches include high resolution, genome-wide, screens and sequencing, in particular making use of consanguineous families. We also collaborate across non-life science faculties via the CoMPLEX programme.