Identification of novel human ocular coloboma genes through evolutionary conserved vertebrate gene analysis

Abstract

The Genomics England Research Seminar series is a season of events held to demonstrate the best research from Genomics England and our partners. They started in October 2018, and are monthly, free-to-attend evenings of talks presented by GECIP members on the latest research being performed on the 100,000 Genomes Project data from our academic community (GECIP), commercial partners (Discovery Forum), COVID analysis and Genomics England research on other cohorts.

This month’s speakers are Dr Saskia Sanserson and Dr Nicholas Owen.

Nicholas Owen is a research fellow in Ocular Genomics and Therapeutics group at the Institute of Ophthalmology, University College London (UCL) utilising genome/transcriptome/epigenome based strategies to further understand the causes of inherited ocular maldevelopment. Nick works at the interface of rare disease translation research and data analysis, migrating from wet to dry lab research. Prior to this, he obtained his DPhil at the University of Oxford, on Spinal Muscular Atrophy followed by postdoctoral research into the development of antisense therapeutic approaches to SMA. Specialising in splicing-related diseases (such as SMA), he moved into the field of ocular genetics, harnessing the groups model systems; zebrafish and 3D organoid cultures.