A PhD student supervised by Dr Rob W J Collin at Radboud University in The Netherlands will be studying the different genetic mutations which lead to Stargardt disease – a macular dystrophy which affects people from childhood and for which there is no cure.
Stargardt is usually caused by mutations in the ABCA4 gene. Patients with two severe variants of ABCA4 develop sight loss early, as their code only contains the instructions to make harmful versions of the protein. Other people with a combination of severe and mild mutations produce a mixture of harmful and normal proteins and so tend to avoid symptoms until later.
In some people with later-onset Stargardt, bits of the genetic code are mistakenly “skipped”. So like a recipe with steps missing, the resulting protein doesn’t turn out like it is supposed to.
This project aims to understand how and why bits of the gene are “skipped”, and prevent the misreading of the gene that causes damaging protein versions to be produced. The studentship will enable a promising young scientist to lay the foundations for a future career in inherited sight loss research.