Scientists from the Institute of Cytology and Genetics SB RAS (Novosibirsk) have presented an innovative method for DNA analysis capable of diagnosing genetic diseases caused by complex structural mutations.
The technology, which has been in development for seven years, identifies chromosomal rearrangements and point mutations that traditional sequencing often misses. As explained by leading researcher Veniamin Fishman:
They (standard diagnostic methods, ed. note) do not see breakdowns associated with the movement of DNA fragments from one region to another. DNA is a very long molecule, and usually, when we think about something changing in it, we imagine that one letter has changed. In fact, often the letters do not change, but in this long molecule, they change their location.
The analogy with text is key here: mutations that "rearrange sentences" in DNA distort biological "instructions," leading to pathologies. Among them are polydactyly, developmental defects, neurological disorders, and others. The technology has already been integrated into the work of the Novosibirsk Family Planning Center and other clinics specializing in reproductive health.
Maria Gridina, a project participant, noted the validation stages:
The development of the method itself took about two years. Precisely to understand that it works, and as we want. <...> the rest of the time was also spent showing that it can really do, give us the data that we need, and that they correspond to reality. To conduct some analysis on specific cases with specific patients to show that it all really works correctly.
The method is now being adapted for early diagnosis of oncological diseases and analysis of embryos during IVF.
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