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A list of diseases for which they are treated by editing the bases has been compiled
Alexandra Medvedev, Indicator
Russian geneticists have compiled the most comprehensive database of diseases in the world, for the treatment of which genomic editing methods based on base editors can be used. The article was published in the journal BMC Medical Genomics (Lavrov et al., Genome scale analysis of pathogenic variants targeted for single base editing).
DNA consists of nucleotides interconnected according to the principle of complementarity: adenine-thymine, cytosine-guanine. A point mutation is the replacement of one nucleotide by another, such cases account for almost 90% (see the figure from the article by Lavrov et al. – VM) of all pathogenic mutations leading to the development of severe hereditary diseases, such as dwarfism, phenylketonuria and hearing loss.
The well-known CRISPR/Cas9 genomic editing system makes it possible to break both DNA chains and cut out dangerous mutations. However, this method can cause new, no less dangerous genetic substitutions. Unlike CRISPR/Cas9, base editors, the so-called "no scissors" editing systems, do not cut DNA chains, their mechanism of action is based on the chemical transformation of the wrong nucleotide into the right one.
Researchers from the Medico-Genetic Scientific Center named after Academician N. P. Bochkov and MIPT conducted a large-scale bioinformatic work. Based on the ClinVar database, they compiled a list of diseases for the treatment of which all currently known systems of base editors can be used. As a result of the work, the most complete database in the world was obtained.
"In theory, every hereditary disease can be edited in this way, only it is necessary to determine in advance a list of suitable mutations for this. New editing tools appear almost every month. They expand the list of known mutations that can be corrected in the future. Therefore, it is necessary to update the list of mutations that lead to hereditary diseases, for the treatment of which newly discovered compounds can be used, regularly, about once every six months," said Svetlana Smirnikhina, head of the genome editing laboratory of the Federal State Medical University "MGNC".
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