معرفی
Alison Hardcastle is a Professor of Molecular Genetics at the University College London, Institute of Ophthalmology, where she has served since 2000, becoming a personal Chair in 2019 as the Sembal Professor of Experimental Ophthalmology. She is also Deputy Director of the Institute (2016–present) and Genomic Discovery and Therapeutics Theme Lead for the NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology.
- Education: BSc (Honours) from North East London Polytechnic, PhD from the University of Newcastle upon Tyne
Research interests focus on inherited eye diseases, spanning gene discovery, molecular pathogenesis, and therapeutic development. Her lab uses next-generation sequencing, stem cell biology, and functional studies to investigate retinal dystrophies, corneal disorders, cataracts, and Nance-Horan Syndrome. Notably, her team identified complex structural variants as major causes of dominant retinitis pigmentosa (RP17) and characterized X-linked retinal and corneal disease mechanisms.
Recent publications highlight her work on genetic variants in ARL3, TCF4, and TMEM216; AI applications in corneal and retinal imaging; and systemic-ocular links like periodontitis and retinal thickness. These articles reflect interdisciplinary approaches combining genomics, bioinformatics, and clinical ophthalmology.
Scientific awards include the Jesse Mole Medal (2016) from RP Fighting Blindness. She serves on scientific advisory boards for Retina UK and the International Centre for Translational Eye Research, and has assessed grants for Fight for Sight.
Collaborations include work with Prof. Mike Cheetham (RP2 protein function), Prof. Stephen Tuft, and Dr. Alice Davidson (inherited corneal diseases). Her lab translates genomic findings into therapies using iPSC-derived retinal models and readthrough drugs.
