University College London | United Kingdom
EMBO 2002 | MemC 05–08 | Council 10–10 | Council 11–13 | Council 14–14
Study of human eye malformations to identify genes implicated in eye development. Defining the role of these genes, mostly eye/brain transcription factors (eg PAX6, SOX2, OTX2) and major signalling molecules (eg SHH), in mice and zebrafish. Exploration of cis-regulatory control mechanisms identifies upstream regulators and downstream targets and generates gene regulatory networks. Additionally, we study mechanisms of phenotype modulation.
Keywords: Human disease genetics / eye anomalies / cis-regulation of gene expression / gene-environment interaction / genome evolution