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mTOR pathway diseases genotype and phenotype

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Lay summary

This study aims to better understand the genetics related to a group of 14 rare diseases called mTOR. We will do this by analysing genetic information together with hospital diagnostic data from Genomics England. From this analysis we might also find that there are genetic causes that we didn't know about before for these 14 diseases. We will check how definite these new genetic causes are by comparing against genetic information from relatives who almost certainly don't have any of these diseases and by comparing different information sources that predict the consequences of various changes in the letter code of the genes. 
 
Even people carrying the same genetic letter code change can have different symptoms. We think that might be because they carry changes in other genes that we haven't looked at. We have a list of genes where there might be hidden changes and we will look for changes in those genes in participants who have mTOR diseases.

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