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Clingen – Fvg. Clinical genomics in everyday medicine
Partners: IGA Technologies, Università degli Studi di Udine, Cro Aviano, Alphagenics Biotech
The genetic tests used today to detect gene variants associated with some diseases apply a targeted approach that allows a limited portion of the genome to be analysed. In this way more than 90% of clinically relevant variants are lost and the diagnostic procedure becomes complex and inefficient.
Whole genome sequencing is becoming the new standard for genetic testing. The current challenge is to reach within a few years its widespread and routine use in clinical practice for the implementation of both customised and accurate medication, and for the prediction of medical responses.
The aim of the project is the development of a workflow for the implementation of sequencing of the entire human genome in clinical practice, especially in the field of three pilot projects: breast cancer, cognitive disorders and defects in eye development.
Among the goals of major impact and benefit are the improvement of healthcare quality and, in perspective, a reduction in the costs of health services. Furthermore, the implementation of data and knowledge of the analysed diseases will be the basis for new research projects and for the development of diagnostic, prognostic and predictive tools.