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Discovering the Causes

A worldwide research effort is opening up the prospect of developing effective means of treating, curing and in some cases preventing RP and other diseases of the retina. The starting point in this is necessarily discovering and understanding, for each retinal dystrophy, what has gone wrong to cause it. Molecular genetics research plays a primary role in unlocking the knowledge of the gene defects responsible for the various forms of retinal degeneration. Remarkably, as many as a hundred gene mutations have been identified, with gene mapping still proceeding in order to provide the basis for ongoing research into understanding the processes entailed in each retinal dystrophy. Because a known pattern of family inheritance is not detectable in some individuals with RP, investigation is also taking place into whether in some cases gene mutation may be triggered by some adverse environmental factor during gestation. However, it is this progressive unlocking of knowledge of causation which gives rise to a number of different themes in the quest to develop effective therapies.



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