This campaign has now closed
Myasthenia gravis (MG) has a complex aetiology where both environmental triggers and genetic risk factors contribute to disease susceptibility, progression and heterogeneity. In addition to the known genetic risk factor of HLA it is likely that other genes are involved in MG. One approach to identifying such factors has been to examine known genes that possibly have a role in MG, suspected from their documented biological role. This “candidate” gene based approach compares gene polymorphism in affected cases versus unaffected controls One problem with this approach is that only known genes can be tested and given there are over 20,000 genes in the human genome this has until recently not been financially or practically possible. The alternative approach of using genetic linkage analysis of families with multiple cases of MG is also problematic as it is not possible to collect sufficient multicase families to take this forward.
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One such method is that produced by Illumina (www.illumina.com) and this is being used to perform genome wide screening of disease genes in a range of conditions by simultaneously testing 550,000 gene polymorphisms for association with disease. The gene polymorphisms tested for this method have been specifically selected to “tag” the majority of the 20,000 genes in both the human genome and mitochondrial genome. We propose to use such technologies and approach to perform a genome wide search for risk genes in MG. For this to happen we will need to: 1. Collect DNA samples from at least 1,000 MG cases in the UK 2. Generate sufficient funds to both finance sample collection and perform the necessary high throughput genotyping The former could be achieved by supplementing the 500 MG samples already collected by Manchester and Oxford groups with those gained through running a national campaign with The Myasthenia Gravis Association where cheek swab samples could be self-collected and posted, and basic clinical information supplied. These studies could have a dramatic impact in identifying the genetic basis of why MG develops in some individuals and give great insight into which molecules are involved in disease causing processes. As such, it would greatly advance research into MG.