The catalog, the result of eight years of work, contains over 443,000 variants that determine the loss of function of the gene and therefore prevent the production of the correct form of the corresponding protein. The researchers led by Konrad Karczewski have tried to establish if the variants could have effects on health, thus going to identify particularly sensitive genes that could be linked to serious conditions such as intellectual disabilities.
The main study is accompanied by two others that enrich the catalog with 433,000 structural genetic variants, i.e. deletions, duplications or inversions of orientation of the genes, which are among the main ‘engines’ of human evolution as well as diseases.
The other researches published by the consortium instead show how the genetic variants that give loss of function can be used to diagnose diseases and to recognize new genetic targets to be hit with drugs. This is the case of the Lrrk2 gene associated with Parkinson’s: by studying its variants, the researchers understood that the gene can be affected with drugs that reduce its activity without causing serious side effects.
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