The mechanisms of photoreceptor cell death

Vision is our most precious sense and it is important to understand what happens when vision fails so that we can develop new treatments. Inherited changes in the rhodopsin gene are the most common cause of the retinal dystrophy, retinitis pigmentosa (RP). RP shares some features with other diseases like Alzheimer's, Parkinson's and Huntington's disease where nerve cells die because the genetic changes associated with the disease lead to faulty proteins upsetting the balance in nerve cells.

We will study the inherited changes that cause RP in the UK and define why they lead to blindness. We will do this using model organisms and patient cells to make artificial retinas in the laboratory. We will then test a range of new therapies for this currently untreatable disease.

These therapies could be used individually or in combination to help delay the progression of RP and extend the length of time a patient can have useful vision. The findings could also be used to understand other types of neurodegeneration.