Functional analysis of variants, genes and pathways associated with common eye conditions
Supervisor: Dr Veronique Vitart
Integration of genetic and genomic features is generating many hypotheses regarding the nature of genetic risk contributing to common eye diseases. Experimental approaches are however critical to validate these findings and unlock their potentials to guide preventative or therapeutic interventions. A particular challenge is to ascertain non-coding genetic variants contributing to disease risk and understand their physiological function. Our lab prioritised genetic variation that could inform on key molecular processes shaping the cornea, e.g collagens’ production, to understand pathogenesis of complex diseases such as Keratoconus, a major corneal transplants indication. Specific areas of interest are to establish extent of cell-type and environmental cue specificities for the variants’ effects and to understand how these specificities are governed. Spatio-temporal function for key regulatory regions implicated could additionally be examined using animal models.