Alison Hardcastle, Professor


Prof. Alison Hardcastle, Deputy Director of UCL Institute of Ophthalmology, is a molecular geneticist specialising in inherited eye diseases. Her research harnesses next generation sequencing to identify novel genomic causes of disease, including previously intractable variants such as structural variants, non-coding mutations deep within introns or regulatory regions. The Hardcastle lab experimentally tests mechanisms of disease in patient derived induced pluripotent stem cells differentiated to RPE, 3D retinal organoids and corneal epithelial cells These models enable the study of pathogenic variants in genomic and cellular context, and development of potential therapies such as AAV gene augmentation, gene editing and antisense oligonucleotides.