Journal Entry 1
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Myopia gene breakthrough
September 13th, 2010
Scientists at King’s College London (KCL) have pin-pointed one of the genes which is responsible for myopia, according to study results released this week.
In a study of 4,000 twins by the Department of Twin Research, scientists identified the myopia susceptibility gene RAGSAF1 – which has been validated in other studies comprising over 13,000 people in the UK, Netherlands and Australia.
Lead author of the study, Dr Pirro Hysi said: “We have known for many years that the most important risk factor for being short-sighted is having parents who are short-sighted, and for the first time we are identifying genes that may be involved in passing on this susceptibility. By identifying biological pathways causing myopia, we hope to be able to develop treatments in the future that will prevent, or stop myopia progressing.”
However, development of an eye drop or tablet to treat the condition may prove more problematic than national press reports proclaiming ‘spectacles could be consigned to history’ (Daily Telegraph) have suggested. Senior author from the Department of Twin Research, KCL, Christopher Hammond, told OT: “The hope is that once we understand the biological pathways involved in regulation of eye growth, we might develop a treatment that blocked a crucial pathway and therefore prevent myopia or halt its progression.
“However, we would have to tread very carefully – given that the myopes who end up highly myopic, and therefore at risk of the blinding complications of high myopia, tend to be of early onset (before the age of eight). We would have to be careful not to interfere with pathways involved in normal brain development if we are considering treatments for children and adolescents.
“We are certainly only at the stage of starting to discover the pathways, and our results suggest there are probably many genes each of small effect in the population – so there is no single myopia gene. Rather like a deck of cards, we are dealt many variants which may increase or decrease our risk, and if you are dealt a lot of high numbers, so to speak, you are more likely to end up myopic.”
The full findings have been published in this week’s edition of Nature Genetics.