This is one of several projects available on an MRC funded 4-year multi-disciplinary PhD programme in Human Genetics, Genomics and Disease at the MRC Human Genetics Unit (HGU), part of the Institute of Genetics and Molecular Medicine (IGMM) at the University of Edinburgh.
In vertebrates eyes form from a group of cells in the neuroectoderm called the eye field. This process can now be efficiently modelled in organoids derived from embryonic stem cells. Our interest is in how expression of the eight mammalian eye field transcription factors (EFTF) is established and maintained. Many of the genes enoding the EFTF are mutated in human eye malformations. This project will map and perturb the cis-regulatory landscape around these genes to help understand both normal and abnormal human eye development.