An investigation of replicated genetic associations from a genome-wide study of sporadic MND.

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We are trying to find genes that make people likely to develop motor neuron disease (MND). This is a wasting disease in which an affected person becomes progressively paralysed over months until they are too weak to breathe.We know that a few people with MND carry a genetic mutation. For most people with MND we think that certain common genetic variations might increase the risk in certain situations.MND takes many forms and we do not know if they are really all the same underlying disease or several different conditions that happen to look the same. This makes gene-hunting difficult. Also, even though MND is quite common (about 1 in every 400 people will die from it), life expectancy is very poor and so at any one time there are not many affected people who can help with research.We have successfully found a genetic signal for MND on chromosome 8 but we now need to pinpoint where the signal is coming from. If we can find out exactly what genetic variation in this area is responsible, we will understand more about MND and this will make it easier to develop a treatment.