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new frontier for the study of pathologies

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new frontier for the study of pathologies

The term precision medicine, although not recent since it dates back to 1952, has found wide use in recent years thanks to the sequencing of the human genome, machine learning, deep learning and the development of new therapies. By precision medicine, we mean the study of intra-individual variability at the level of genetic characteristics, the microbiome, the lifestyle of the patient in question, in order to obtain targeted and more effective therapies and drugs. This approach is therefore based on the personalization of health, on the choice of specific products for the patient and fundamental for the therapies.

Precision medicine, although it is a method that has been developing in recent years, made its debut in the past with blood transfusions, which can only be performed if the donor and the recipient are compatible. The same reasoning applies to transplants, where the recipient of the healthy organ or tissue must be compatible with the donor. Therefore, through precision medicine it is possible to find more suitable treatments for the treatment of pathologies that are not yet curable.

The uses of precision medicine

Both precision medicine and personalized medicine focus on the study of the analysis of the human genome, to identify the characteristics of the patient and find a targeted cure. As regards the distinction between the two approaches, precision medicine studies the genetic mutations that concern a pathology and can be present in more than one individual, thus addressing a circle of people.

For example, this method has allowed the discovery of a pharmacological product, namely the “ribociclib” which inhibits the enzyme that is responsible for the growth of the tumor and blocks its growth. Another drug is thetaking” which has effects on pancreatic cancer by improving its progress. Personalized medicine, on the other hand, focuses on the individual patient and not on the disease. Therefore, the patient’s genetic characteristics are considered and a treatment is “personalised” for a single individual, leading to an approach that is difficult to implement and very expensive in terms of money, as it is an ad personam therapy.

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Among the pathologies of precision medicine there is the cystic fibrosis, for which a drug has been developed starting from a specific mutation. Other treatments have been developed against theepilepsy o anticoagulants. Personalized medicine makes it possible to determine the risk of cancer based on lifestyle and genetic heritage.

Heal Italia

Heal Italia is the first national supply chain that focuses on research and innovation in the field of precision medicine. The initiative is part of one of the 14 extended partnerships envisaged by the PNRR as part of Mission 4 Component 2 “From Research to Business” with the aim of investing in innovation poles to strengthen the research sector at national level and to promote their participation in European and global strategic value chains. This project was presented by the University of Palermo with 11 other universities, the Istituto Superiore di Sanità, five Scientific Research and Treatment Institutes, as well as six companies and a research foundation.

The purpose of this program is to bring the National Health System into the contemporary era of Precision Medicine, allowing, with the aid of new investigation and study methods supported by translational research, to diagnose and create suitable therapies for treating cancer , cardiovascular diseases and rare genetic diseases. The project coordinator, George Stattiteacher of Technical Sciences of Laboratory Medicinedeclared its intention to obtain, through this work plan, a reduction between the health gap between Northern and Southern Italy, as well as new approaches that are economically advantageous and accessible to all.

The Heal Italia supply chain makes use of automatic learning algorithms and approaches, based on artificial intelligence and machine learning, allowing the integration of health data in such a way as to carry out early diagnosis and treatment. Other tools areHealthy Toolbox for the development of new diagnoses and precision therapies, Clinical Exploitation for clinical validation e Prevention Strategies for the development of prevention strategies.

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Future developments

Could precision medicine be the future for the study of pathologies? The answer is yes. Through the study of genetic characteristics, it is possible to create more suitable therapies. Furthermore, this approach makes it possible to search early for markers of diabetes, cardiovascular disease or tumors, even in families, through genetic counseling, with new technologies and computer studies that allow reading and interpreting the data.

However, despite the enormous potential of this approach, the costs of treatments and individual treatment plans must be considered, which unfortunately are not affordable for all patients. Precision medicine will represent and will be the future development of medicine, which will be personalized on patients who have genetic aspects in common with the manifestation of the disease, leading to a real change in their treatment.

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