This method was developed by the Genomics, Genetics and Biology Innovation Hub at the Toscana Life Sciences Foundation incubator. The first area of application will be oncology.
This represents a significant advancement in genetic research and precision diagnostics for rare and oncological diseases. The patent, entitled “Method for detecting minority genetic variants”, was approved on January 23 2025 and obtained by the Genomics, Genetics and Biology Innovation Hub at the Fondazione Toscana Life Sciences incubator in Siena.
This medical innovation provides an extremely accurate method for identifying rare genetic variants in biological samples, which are difficult to detect using traditional methods. Thanks to CRISPR-Cas technology, the biological sample undergoes a molecular enrichment process that eliminates non-mutated sequences and isolates only the portion of the genome containing variants of clinical interest. This approach significantly reduces analysis time and costs while enabling the identification of new genetic variants, which could have a revolutionary impact on personalised diagnostics.
“The deep knowledge of molecular biology techniques, combined with the diagnostic vision of the Siena team, has allowed us to go beyond boundaries and to reach this important milestone,” declares Jaroslaw Krzywinsky, Chief Scientific Officer of the GGB Hub at the Ecology and Genetics Laboratory in Terni, renowned for its cutting-edge research on vector control. The method is versatile and allows application in several fields, including early identification of tumour mutations in oncology, non-invasive genetic screening in prenatal diagnosis, monitoring of genetic biomarkers in cardiovascular and chronic diseases, control of organ rejection in transplant medicine, identification of pathogens in microbiology and virology, and detection of contaminants through environmental DNA in environmental analysis. “Reaching this important milestone in a short time demonstrates the solidity of our scientific approaches and confirms our innate vocation for innovation,” states Greta Immobile Molaro, CEO of the GGB Hub. “Our first area of application will be oncology, but we intend to continue working to extend the fields.” Early diagnosis of cancer, even before symptoms appear, is crucial for improving treatment possibilities and patient survival.
“At present, there is still an unmet need for diagnostic tools for precision oncology that are at the same time sensitive, scalable, flexible and affordable,” specifies Greta Immobile Molaro, CEO of the GGB Hub. “Our objective is to develop a complete solution that includes a simple and efficient NGS library-preparation system, an automated bioinformatic quality control for sequencing-data analysis, and a medical report supported by Artificial Intelligence algorithms.”
“This patent,” concludes Greta Immobile Molaro, “represents a step forward in genetic research and in precision diagnostics, opening new perspectives for personalised medicine and for the monitoring of complex diseases.”
