A 24-year-old Jake Ternent got a new Gene Therapy and got better eyesight. He has been gradually losing his central vision since birth, because of a rare inherited genetic eye condition. His condition Leber congenital amaurosis – is caused by having two faulty copies of a gene called RPE65, which is essential for maintaining healthy photoreceptor cells in the retina.
This pandemic, 2020 was a landmark year for the 24-year-old, from County Durham, who became the first person in the UK to receive a revolutionary new Gene Therapy on the NHS. In 2019 the NHS agreed to fund the treatment, Luxturna, the first in a new generation of Gene Therapy for conditions causing blindness. It costs £600,000 per patient to treat both eyes, though the NHS has agreed on a confidential discount with the makers Novartis.
Jake says that this treatment has stabilised the sight in his right eye, it also appears to have reversed some of the decline in a vision he has experienced in recent years. He could see his facial features which he couldn’t in the past years.The new therapy works with the injection that distributes working copies of a faulty gene, RPE65, into the retina at the back of the eye. The DNA is covered in a harmless virus that breaks into the retinal cells.Once inside the nucleus, the replacement gene kick-starts production of the RPE65 protein important for healthy vision.