MOSCOW, August 19 Scientists from the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences have developed a technology for analyzing the risks of predisposition to hereditary and oncological diseases. To do this, they learned to identify so-called submicroscopic chromosomal rearrangements in the human genome, the institute’s press service reported.
Employees of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (ICG SB RAS) have developed a new technology that allows the detection of so-called submicroscopic chromosomal rearrangements in the human genome. We are talking about very small changes in the DNA structure that are extremely difficult to detect using traditional methods.
Balanced chromosomal rearrangements and other genetic factors are one of the most common causes of infertility and miscarriage. Their early diagnosis and preimplantation genetic diagnosis (PGD) can help couples with chromosomal rearrangements conceive and give birth to a healthy child, reducing the risk of transmitting a genetic disease to future generations, said Veniamin Fishman, a researcher at the sector of genomic mechanisms of ontogenesis of the Institute of Genetic Genetics SB RAS.
«»We have developed a technology that first requires preparing DNA samples in a non-standard way. This allows us to store information about how the genome is laid out in the cell nucleus. After this, it is necessary to conduct an in-depth analysis of the DNA using modern sequencing methods. This allows us to detect changes in the arrangement even small sections of the genome,” he explained.
According to him, the new technology is suitable for analyzing various biological materials, such as blood, tumor tissue, and embryo biopsies obtained during the IVF procedure. It allows distinguishing an embryo carrying chromosomal rearrangements from a normal embryo during IVF diagnostics and increases the parents' chances of having a healthy child.
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«»The search for chromosomal rearrangements is a pressing issue; there is a lot of scientific research in this area, but so far these have not been included in routine practice methods have not yet been included. Our research is based on innovative methods related to DNA contact analysis,» Fishman said.
He added that in comparison with analogues, the development shows comparable or even higher sensitivity at a lower cost. Moreover, the adaptation of the method for studying embryo samples was performed for the first time in the world.
In their work, scientists use a combination of new methods from the field of biochemistry and well-established medical genetic technologies, which are based on high-performance sequencing. Today, they are moving on to finding industrial partners and implementing the developed technologies.
In parallel, work continues on improving the methods created. A robotic station for embryo analysis is being created — this will make the method more reproducible and simplify its scaling.