In Modena, an event brought together individuals affected by neuromuscular conditions to explore the potential of artificial intelligence in achieving more precise diagnoses and offering hope for future advancements.

On Saturday, 10th May, Modena hosted an event entitled “Precision Diagnosis and Artificial Intelligence for Neuromuscular Patients: New Tools and New Possibilities”, dedicated to patients, their families and caregivers, doctors, and other healthcare professionals.

The event, part of the European CoMPaSS-NMD project, began with a welcome from the organisers: Rossella Tupler, a geneticist at the University of Modena and Reggio Emilia and project coordinator, and Franca Barbieri, president of the Modena section “Enzo e Dino Ferrari” of UILDM (Italian Union for the Fight Against Muscular Dystrophy), who recalled the 45th anniversary of its founding.

The Mayor of Modena, Massimo Mezzetti, emphasised the “practical approach” of the CoMPaSS-NMD project and the initiative in offering patients “a context that can adequately respond to their questions. In a world where there is too much information that is not always of good quality, there is a need for initiatives like these that provide support, assistance, and guidance.”

The floor was then taken by Michele Zoli, former director of the Department of Biomedical, Metabolic and Neurosciences at Unimore, and Dean of the Faculty of Medicine and Surgery. Zoli, a physician and neuroscientist, spoke of the critical approach of his colleague Tupler, who “has always sought something more, tried harder: an enrichment of the context and information that opens up and contextualises genetics. Today we are witnessing a success of genetics that is pervasive, innovative, precise, and detailed, at the service and support of medicine. We are talking about artificial intelligence; we do not know if it is better than human intelligence, certainly different and complementary. The CoMPaSS-NMD project will analyse the advantages and limitations of these new technologies. The goal is to understand in order to regulate.”

The initial greetings concluded with remarks from Marco Rasconi, national president of UILDM: “45 years of volunteering,” said Mr Rasconi, “means that for 45 years we have chosen every day to contribute to changing the landscape of muscular dystrophy. UILDM stems from a desire for participation. Each of us makes available time, skills, and experiences to contribute to the improvement of our community. We are extending the associative boundaries in various fields: social, educational, political, and research.”

Artificial Intelligence and medicine: a socio-technology to understand

This was followed by presentations from experts in artificial intelligence and neuromuscular diseases who guided participants through an understanding of the role of AI in medicine, a new “socio-technology”, as philosopher Matteo Galletti, one of the day’s speakers, defined it, stressing the importance of following “an approach that does not lose sight of the person who cares or is cared for.”

Filippo Santorelli, a neurologist at the Stella Maris Foundation in Pisa and a project partner, introduced the audience to the context of rare neuromuscular diseases, then presented the objectives, approach, and impact of the CoMPaSS-NMD project. “There are more than 7,000 rare diseases, affecting almost 80,000 patients. They are so rare that they do not attract adequate attention, yet they weigh heavily on individuals, society, and the healthcare system. When the symptoms of a rare disease appear, the doctor is faced with an excessive variability of clinical histories that, initially similar, have subsequently had very different developments and outcomes. How is it possible to know them all in order to make a correct, rapid, and accurate diagnosis?” asked Dr Santorelli. The CoMPaSS-NMD method represents an innovative and multidisciplinary solution for the diagnosis and management of neuromuscular diseases. By placing the patient at the centre, it integrates a team of experts, including artificial intelligence, to analyse complex data and reconcile the concerns of parents with medical interpretation. The primary objective is to arrive at a precise diagnosis that can shorten the diagnostic pathway, alleviate the suffering of the patient and their family, improve quality of life, and reduce the costs associated with the disease, leveraging knowledge gained from the past to progress in the future.

But what is artificial intelligence?

Giulia Raffaella De Luca, a doctoral student at the University of Bologna, explained it very well.

Born in 1956, Artificial Intelligence (AI) represents a rapidly evolving frontier. We define AI as those computer systems capable of emulating tasks that would traditionally require human intelligence. A crucial subgroup is Machine Learning (ML), an approach that allows systems to learn autonomously through the analysis of examples, just as a child learns by observing. By providing a greater number of examples (of data), the system refines its understanding.

But how does this process work concretely in the diagnostic field? It starts with a myriad of heterogeneous data from various hospital sources. The goal is to transform this raw data into useful information for the individual patient, such as a classification or a diagnosis.

The applications of AI in medicine are vast and destined to grow. Suffice it to say that the amount of data generated annually by hospitals is immense, making it impossible for a single doctor to analyse it completely. AI offers the promise of moving from a “one-size-fits-all” therapeutic approach to increasingly personalised and precise medicine, “tailor-made” for the patient.

AI, therefore, represents support for the doctor but does not replace them; rather, it represents a powerful “magnifying glass”, a tool that amplifies human capabilities. Perhaps it is more appropriate to speak of “augmented intelligence”: the synergy between medical expertise and the analytical power of AI represents the true promise for a more effective and targeted future of healthcare.

Ethics, digital rights and regulations

Artificial intelligence is revolutionising medicine, showing the ability to outperform doctors in some tasks, as highlighted in Chapter 5 of the Stanford 2025 Index Report. However, the adoption of these technologies raises crucial ethical and regulatory issues, especially in relation to digital human rights and the management of patient data, as emphasised by Laura Ferrari, a lawyer from The Good Lobby and the Network for Digital Human Rights, and Davide Golinelli, a medical consultant.

A central point is whether the current regulatory framework is sufficient to guarantee user understanding and trust, alleviating their ethical concerns. AI ethics imposes limits and responsibilities to be integrated into algorithms, especially when decisions impact sensitive areas such as dignity and human life. From this perspective, a human-centred approach to AI is fundamental, requiring responsible human oversight for every significant decision; an issue addressed in the CoMPaSS-NMD project, which the Roman company Deep Blue is working on.

Laura Ferrari also introduced the concept of the four neuro-rights – mental privacy, psychological continuity, mental integrity, and cognitive liberty – highlighting the need for specific protection in this new technological scenario. The question of “who defends us?” becomes crucial, suggesting the need for an independent and third-party authority with respect to governments and companies. The European regulatory path is still evolving but is moving precisely in this direction with the AI Act and the Data Act, explained Brando Benifei, a member of the European Parliament.

In parallel, as Davide Golinelli pointed out, the regulatory aspect is fundamental for the introduction of AI in clinical settings. Biomedical devices and systems, such as those based on AI, must obtain CE marking according to Regulation 745/2017 before they can be used on patients. Finally, the comparison with the US approach, generally less regulated than the European one, highlights different global perspectives on the integration of AI in medicine.

“We should be prepared for biotechnological progress. But the innovative process is so fast that ethics follows technology. If it cannot anticipate it, then it should at least accompany it. Technology and its ethical use should proceed in tandem. We are then talking about supervised technology. And here, an interesting aspect to keep in mind is that we are not only talking about humans using technologies, but about humans and technologies that interconnect and collaborate. We must (pre)occupy ourselves with how they interact,” concluded Matteo Galletti, a philosopher at the University of Florence.

An active and informed participation

Patients responded to our invitation in large numbers and with enthusiasm, demonstrating a great desire to understand, obtain correct information, and contribute to the improvement of still critical aspects in the field of rare neuromuscular diseases.

The event continued in the afternoon with a discussion session between participants and speakers, during which the needs and questions of neuromuscular patients emerged, to which initiatives such as CoMPaSS-NMD and UILDM aim to provide concrete answers, standing alongside patients without ever replacing them.