CRISPR / Cas9 base editors systems were used for genome-wide search for pathogenic mutations

Single nucleotide variants account for approximately 90% of all known pathogenic variants responsible for human diseases. A large number of research teams around the world make efforts to correct such mutations using CRISPR / Cas9 systems.

One promising modification of the CRISPR/Cas9 genome editing system is the so-called "base editors," which can correct individual nucleotides without cutting the DNA and creating double-stranded breaks. However, such systems can correct not all mutations, but only those in a certain nucleotide context.

The RCMG researchers’ study provides analysis of all pathogenic mutations from the ClinVar database to identify those that can be edited using the CRISPR/Cas9 base editors systems.

"We now have a clear understanding of which system to apply to edit a mutation and which not. And for some mutations we have already begun such experimental work" - Alexander Lavrov, senior researcher of the Editing laboratory commented on this work.

The data obtained are open for public use.

https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-020-00735-8

Alexander V Lavrov, Georgi G Varenikov, Mikhail Yu Skoblov. Genome scale analysis of pathogenic variants targetable for single base editing. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):80. doi: 10.1186/s12920-020-00735-8. (IF 2.568, Q3).