Department of Biological and Medical Sciences


  • New candidate genes

    We are currently working on several new candidate genes for anophthalmia, microphthalmia and coloboma, and have recently published our results on OLFM2. We have screened our entire cohort for alterations in these genes, explored the expression of this genes in embryonic tissue, and have performed zebrafish modeling in collaboration with Professor Steve Wilson’s group at UCL.

    Whole exome sequencing

    We are currently employing whole exome sequencing to identify new genes and pathways involved in human eye development. We have developed an analysis pipeline using several software packages that will allow for rapid sequence analysis.

    Targeted gene panel sequencing

    In collaboration with the West Midlands Regional Genetics Service we have developed a diagnostic test that will simultaneously screen 350 genes that are known to be involved in eye development, or are part of eye development pathways, for alterations. This test will allow rapid genetic diagnosis of eye development syndromes.

    Professor Nicky Ragge’s research is currently funded by Baillie Gifford, MACS and VICTA.