By now we know it well. Identify a specific genetic defect, such as the alteration of the BRCA1 and BRCA2 genes, it can indicate the more effective therapy For women for different tumor forms, as well as allowing careful monitoring of the situation. For example, think about breast cancer. Some time ago, after the systematic revision of the scientific literature, the recommendations of the ASCO scientific society have been published in the Journal of Clinical Oncology together with the association of American breast surgeons regarding the appropriate use of genetic tests.
And it’s just an example of how much The study of geneticsin forms Erado-family tumor But not only that, it can represent an important step forward in terms of growth in diagnosis and treatment of diseases, even beyond neoplasms. In this sense, in the context of increasingly precise and developed technologies, further development in genetic research and in the precision diagnostics thanks to a new patent developed by GGB pole (genomics, genetic and biology innovation pole)based in Siena, at the Toscana Life Sciences Foundation Incubator, and equipped with a research center in Terni.
Looking for rare variants
The patent describes an extremely innovative and precise method for identifying rare genetic variants within biological samples. In fact, these are variants difficult to identify with traditional methods since often present at low frequencies in a pool of unused genetic sequences. Thanks to CRISPR-CAS technology, the biological champion is subjected to a Molecular enrichment processwhich allows you to eliminate the unused sequences and isolated exclusively the portion of the genome containing the variants of clinical interest. This approach not only It significantly reduces analysis times and costsbut also allows the identification of new genetic variants, with a potential revolutionary impact in the field of personalized diagnostics.
“The profound knowledge of molecular biology techniques, combined with the diagnostic vision of the Siena team, has allowed us to overcome boundaries and reach this important milestone”
Report Jaroslaw Krzywinsky, Chief Scientific Officer of the GGB Polo at the Ecology and Genetics Laboratory of Terni, who carried out cutting -edge research on the control of vectors.
Early diagnosis of tumor mutations
The versatility of the method allows its application in different areas. Obviously oncologywith the early identification of tumor mutations, represents the starting point. The early diagnosis of cancer, even before the symptoms appear, is in fact crucial to improve the possibilities of treatment and survival of patients. Time is a decisive factor For those who discover they have a tumor, and to have faster and more accurate tools can make a difference, in addition to the availability of tools that can allow continuous monitoring of the pathology trend.
“Currently, there is a need still dissatisfied with diagnostic tools for precision oncology that are at the same time sensitive, scalable, flexible and economic – explains Greta Immobile Molaro, CEO of the GGB pole. Our goal is to develop a complete solution that includes a simple and efficient NGS preparation system, automated bioinformatic quality control for the analysis of sequencing data and a medical report assisted by artificial intelligence algorithmic “.
Other laboratory applications
They are not oncology, of course. Thanks to the patent you can focus in the laboratory at the prenatal diagnosis thanks to a non -invasive genetic screening, to the monitoring of genetic biomarkers in the event of Cardiovascular pathologies Or other chronicities.
But that’s not enough. The strategy also provides potential to commit in the management of the Checking the rejection after a transplantation organ, in theIdentification of viruses or pathogenic bacteria and could also prove useful in detecting contaminants through the Environmental DNA.
The GGB (genomics, genetic and biology innovation pole) is a high specialization center dedicated to the promotion of scientific research in the fields of genetics and genomic, of the study of disease vectors, bioinformatics and biology. Based in Siena, where the laboratory of Genomica & Bioinformatica is located, Polo GGB can also count on the Laboratory of Ecology and Genetics of Terni, engaged in innovative research projects aimed at developing genetic systems for the control of insects vectors of diseases, in particular malaria, with Gene Drive technology.
