Focus
02.02.2025

First National Conference of the Precision Medicine Center – HEAL Italia for Rare Diseases

Prof. Gianluca Moroncini

Full Professor of Internal Medicine, Director of the Department of Clinical and Molecular Sciences, Università Politecnica delle Marche, and Director of the Medical Clinic at AOU delle Marche – Network Coordinator “Prevention Strategies”, HEAL ITALIA Project

The Conference, organised on 28 February and 1 March 2025 — since 29 February (the date identified for its rarity as World Rare Disease Day) does not appear on the calendar this year — marks the beginning of the activities of the HEAL ITALIA Precision Medicine Center in Ancona and represents the fourth stage of the HEAL ITALIA Roadshow, a travelling tour that the HEAL ITALIA Foundation launched in October 2024, dedicated to strengthening the partnership and disseminating the Foundation's activities not only to professionals in the field but also to institutions, people affected by diseases and their associations, and civil society as a whole.

Currently, these diseases are still managed — in terms of both prevention and diagnosis and therapy — according to a “one-size-fits-all” model that fails to account for the enormous individual differences concealed within groups of at-risk or affected individuals, who are labelled and treated in the same way when they should instead be grouped into distinct homogeneous subgroups, the so-called “endophenotypes”, to be managed in a well-differentiated and modulated manner according to sex and the different stages of life.

This paradigm shift constitutes the founding principle of Precision Medicine, which must also be applied to Rare Diseases. Rare Diseases — defined as such when there are fewer than 5 cases per 10,000 inhabitants — are in fact extremely numerous (over 6,000 different diseases for a total of approximately 30 million patients in Europe), highly heterogeneous (very different endophenotypes are grouped under the same designation), difficult to diagnose (diagnostic delay is significantly higher than in other diseases) and to treat (they often lack specific therapies). They therefore represent a challenge for the medical and scientific community, one that can only be effectively addressed through the creation of national and international partnerships dedicated to the exchange of biological samples, associated clinical data and multidisciplinary expertise, including the capacity to educate and disseminate knowledge.

The establishment of the HEAL ITALIA Precision Medicine Center at the Department of Clinical and Molecular Sciences of the Università Politecnica delle Marche in Ancona serves precisely the purpose of developing Precision Medicine in the field of Rare Diseases, improving preventive, diagnostic and therapeutic pathways through innovative research, training and clinical care. It will be able to draw on the extensive multidisciplinary expertise — both experimental and clinical — present in the other Departments of the Politecnica, in the Azienda Ospedaliero-Universitaria delle Marche, in the IRCCS-INRCA, and on the Biobanca delle Marche, equipped with a laboratory specifically created for advanced analysis of liquid and solid biopsies. The Ancona Precision Medicine Center will act in synergy with the Regional Coordination Center for Rare Diseases under the Marche Regional Health Agency and in collaboration with the other HEAL ITALIA Precision Medicine Centers.

The HEAL ITALIA Precision Medicine Centers are in fact configured as an articulated system of services that must integrate — especially in hospital settings — omic data analysis, predictive model development and clinical decision support, enabling national health service institutions to develop Precision Medicine programmes within organised contexts.