Pluripotent stem cell technology - the BEST option for investigating vision loss

Bestrophinopathies are ophthalmic disorders caused by pathogenic variants in the Bestrophin1 (BEST1) gene and are typically characterized by retinal degeneration. BEST1 is a protein made exclusively in the retinal pigment epithelial (RPE) cells of the eye, and while RPE is not directly involved in light detection, it is needed to keep the overlying retinal cells healthy. When the RPE cells are affected, photoreceptor cells degenerate and cause central sight loss. Dr. Amanda Carr and her team have been using induced pluripotent stem cell technology to investigate why patients are going blind by producing stem cells from patients and use these to make RPE.  These cells provide us with a new model system to investigate how BEST1 mutations affect the RPE and give us the opportunity to develop treatment options for bestrophinopathies – find out more from Amanda Carr!

About our speaker

Amanda Carr

Lecturer and Senior Research Fellow, UCL Institute of Ophthalmology, London, United Kingdom

Amanda Carr is a lecturer and Senior Research Fellow at the Institute of Ophthalmology of UCL, London. She graduated from Keele University with a Bachelor in Science, with First Class Honours. Immediately after graduation, she obtained her PhD in Neuroscience from The University of Manchester. Dr. Carr is a member of UCL Centre for Stem Cells & Regenerative Medicine Research Group, while also being involved in the London Project to Cure Blindness, which aims to improve vision for people with sudden severe visual loss as a result of wet age-related macular degeneration. The team developed a stem cell bank, containing samples from patients and were able to generate the retina cells affected by disease, allowing them to study eye diseases in a dish.