Research Interests

Photoreceptor, Connecting cilium, Inherited retinal dystrophy, Translation

My clinical and research interests lie in the inherited retinal dystrophies (IRDs), a group of monogenetic diseases that cause irreversible blindess. Mutations in over 400 genes cause death of the light-sensing photoreceptors in the retina, resulting in visual loss.

The photoreceptor contains the most elaborate primary cilia in our body, comprising an expanse of folded membrane discs packed with the photosensitive pigment rhodopsin. These discs, constituting the photoreceptor’s outer segment, continually turn over in a dynamic, poorly understood process required for vision.  Mutations in genes that underpin certain retinal dystrophies lead to abnormalities in cilia trafficking and disc formation. 

My research is aimed at defining the roles of these genes in photoreceptor health and diisease and the pathways that drive photoreceptor death, causing blindness. Clincally, I help run advanced therapeutic trials (gene replacement, antisense oligonucleotides) that aim to arrest sight loss in IRDs. 

I would like to present at group meetings organised by individual group leads – please contact me if you have an opportunity.