By Ross Lydall @RossLydall - 20 August 2018
Doctors are growing eye parts from skin cells in pioneering research that is seeking a cure for rare genetic causes of blindness.
Experts at the UCL Institute of Ophthalmology have been able to transform a skin sample the size of a lentil into an “eye cup”, akin to the eye’s early development in the womb.
Because the eye cups contain the patient’s genetic information, they can be used to test the effectiveness of drugs in delaying, or potentially restoring, the damage disease is causing to their retina, the light-sensing layer of the eye.
Project leader Dr Mariya Moosajee, a consultant ophthalmologist and scientist, said analysing a patient’s faulty genes and their role in causing disease would help find targets for treatment.
Dr Moosajee, who also works at the Biomedical Research Centre at Moorfields Eye Hospital and Great Ormond Street, said: “Once we know a patient’s genetic diagnosis, we can grow their own retina in a dish to better understand the disease.”
Drugs are then tested on the eye cups or in zebrafish, tiny creatures that share 70 per cent of their genes with humans. Drugs that are already approved for human use in other diseases are being tried first.
Dr Moosajee explained: “If we can find drugs that are already approved for patient use, that are then shown to have an effect on the eye models, then we can move to clinical trials much faster.”
Due to London’s ethnic diversity, Moorfields is thought to have the largest cohort of patients with genetic eye disease in the world. Many diseases cause children to be born blind or to lose their sight in their early years.
The process of creating an eye cup takes several months in a laboratory. A 4mm piece of skin is taken from the patient’s arm and placed in a flask containing nutrients. Electric pulses allow a special combination of proteins to enter the cells to turn them into stem cells, which are then manipulated into becoming eye cups.
Primary schoolteacher Matt Murrell, 29, is taking part in the research. He has been treated at Moorfields since being diagnosed at age five with choroideremia, a progressive retinal degeneration caused by a gene mutation. It began as night blindness and he started to lose his peripheral vision in his early twenties.
Dr Moosajee has already identified a drug that has been shown to improve the function of his retinal cells grown from his skin. She is now seeking funding to support a clinical trial for patients like Mr Murrell.
He said: “By the time I’m 35 I’m hoping to have something that stops it getting worse. If it can be reversed, that will be brilliant and will prevent me from totally losing my sight.”
‘If I could stop her disease getting worse I’d be the happiest mother’
Sivia Cerolini’s four-year-old daughter Vicky Orlandi has Leber congenital amaurosis, one of the most severe forms of sight loss in children.
Ms Cerolini and her husband Enrico, who live in Vauxhall, both unknowingly carried the defective RDH12 gene and passed it on to Vicky. They are facing a race against time for a treatment — or cure — to be developed which can help Vicky, and are helping to fund Dr Moosajee’s research.
Vicky has some sight left, but is registered blind. She could be totally blind within 10 to 15 years. Her mother said: “She is using it quite well at the moment, but she has trouble reading and writing. The saddest thing is she is going to lose what she has left. If only I could stop the progression of the disease, I would be the happiest mother. Losing it completely is what we are trying to avoid.”
Vicky’s condition was discovered only when Ms Cerolini was pregnant with her son Filippo, now two. He did not inherit the disease. Ms Cerolini said: “We are not going to leave any stone unturned. It’s become our mission to do everything we can. If it’s not going to be for Vicky, it will be for future generations.”