The Rosetta Stone of the human genome has been unveiled – Biotech


The largest catalog of human genetic variants is ready: based on the DNA analysis of over 140,000 people all over the world, it is like a Rosetta Stone that will help interpret the genome to discover the function of genes, identifying those responsible for diseases that can be affected with medications. The result is published in seven studies in the journals Nature, Nature Communications and Nature Medicine by the international research consortium gnomAD (Genome Aggregation Database), led by the Broad Institute and Massachusetts General Hospital. Italy also participates with the cardiologist Diego Ardissino of the Parma University Hospital.

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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