An 18-year-old whose sight was failing has had his vision improved in a pioneering operation carried out by doctors at Moorfields Eye Hospital. The London researchers used gene therapy to regenerate the dying cells in Steven Howarth's right eye. As a result he can now confidently walk alone in darkened rooms and streets for the first time.
Steven, from Bolton, is the third person to have the operation - doctors expect better results in future cases. Before the procedure, he could hardly see at all at night and in time he would have lost his sight completely.
His condition - Leber's congenital amaurosis - was due to a faulty gene that meant that the light-detecting cells at the back of his eye were damaged and slowly degenerating further.
But, in a delicate operation, surgeons at Moorfields injected working copies of the gene into the back of Steven's eye.
As I listened to this news on the radio, I was reminded of the person who first identified a link between a specific genetic defect and a resulting illness. The illness concerned was Down's Syndrome, and the geneticist Jerome Lejeune. It was the aim of Jerome Lejeune's research that the discovery of this link would lead to the development of a cure. A similar intention lay behind the work of Professor Liley, originally from New Zealand, who first invented the technique of pre-natal diagnosis. Sadly, both men saw their discoveries diverted from their original objectives towards selective abortion of those identified in the womb as being disabled.
In some way at least, today's news represents a fulfilment of their work. The potential of gene therapies to revolutionise medicine is beginning to become a reality. And, at the very beginning of this development, lies the work of Jerome Lejeune.
My own direct memory of Jerome Lejeune is seeing him chairing a question and answer session at the end of a conference in Oxford, just a few months before he died in April 1994. This he did in a way that can only be described as "fatherly", and I had to remind myself of his immense moral and intellectual stature. Having since read "Life is a Blessing", the biography of Jerome Lejeune written by his daughter Clara, this was entirely in character.
1 comment:
Thanks for this post, Joe. I met with my MP last week and asked his opinions about the HFE bill (obviously I'd already written but his answer was evasive as usual). He told me that he thinks that if in 20 years' time or so there's a cure for a disease that has resulted from embryonic stem cell research then he will have been glad to have voted for it (which he intends to do). He doesn't see the embryo as a human person but merely 'a bundle of cells'. I'm reminding myself really, but we do need to continue to storm heaven on this one...
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