At the IRB, a laboratory offers hope to those with a rare disease

To mark Rare Disease Day on 28 February, an encounter dedicated to rare diseases and organized by Ente Ospedaliero Cantonale (EOC) will be held at Ospedale Civico Lugano, with the participation of Dr Maurizio Molinari, Laboratory Director at the Institute for Research in Biomedicine (IRB, affiliated to Università della Svizzera italiana), interviewed for the occasion by La Domenica.

The so-called rare diseases are not so rare: every minute, 10 children are born with a rare disease. Many of these diseases are genetic and hereditary. According to the University Institute of Social and Preventive Medicine in Lausanne, they affect 7.2% of the Swiss population. This amounts to about 650,000 people in Switzerland and 25,000 in Ticino.

Rare diseases are challenging to diagnose, debilitating, and often characterised by a progressive and irreversible decline in the patient's health. Moreover, families often struggle to gain acknowledgement for at least partial reimbursement of healthcare costs and to access medications that may have already been approved in neighbouring countries but are not yet available in Switzerland. And what about the difficulties in identifying facilities to help parents manage a sick child?

To effectively address all these issues, Dr Maurizio Molinari explained that it is essential for all interest groups—including patients and their families, advocacy associations, doctors, and researchers—to coordinate their activities. Over a decade ago, the Swiss government recognised that neighbouring countries, including Italy, Germany, and France, were better organised than Switzerland in supporting scientific research, medical assistance for affected individuals, and legal and social protection for families affected by the problem. Although it is true that in 2014, the Swiss Confederation finally launched "The National Plan for Rare Diseases", the initiative did not receive the financial backing that would have allowed it to be implemented, as the IRB laboratory director explained. Only last year, a programme was launched involving Universities, Universitätsspital and Kinderspital in Zurich, aimed at integrating clinical practice with training and research in the biomedical, ethical, legal and social fields. It is called Itinerare (Itineraries) and has opened up a path that is also expected to be followed in the Swiss French-speaking region, where the University of Geneva is pursuing a similar direction. It is also hoped that Ticino will follow suit, creating a network among researchers, clinics, patient associations, and families. This would establish a virtuous circle that ensures the influx of funding—where research acts as a driving force—and improves diagnostic capabilities, develops new therapies, and supports families.

Dr Maurizio Molinari highlights that the definition of a rare disease can be misleading. A disease is classified as rare if it affects fewer than one in every 2000 newborns. However, considering there are over 8000 rare diseases, it becomes clear how many people are affected. "In my opinion, one mistake that is made is to consider rare diseases individually. Each disease affects a small number of patients, resulting in limited interest in funding research to improve diagnosis or develop therapies that, if not curative, can at least slow disease progression and enhance the patient's quality of life. From a medical perspective, a child with muscular dystrophy exhibits different symptoms, challenges, and treatments than a child with cystic fibrosis. Muscular dystrophy impacts the muscles, while cystic fibrosis affects the lungs. However, at a cellular level, the two conditions (and many other rare diseases) share more similarities than one might expect. They are both caused by a protein that fails to fold correctly within our cells, rendering them unable to function properly. In muscular dystrophy, the defective protein is necessary for muscle formation, while in cystic fibrosis, it is crucial for lung tissue protection. If we consider the issue from this perspective, focusing not on the macroscopic differences among patients with various diseases but on the cellular similarities in the processes that lead to these diseases, our role as researchers—more specifically, as cellular biologists—becomes clearer: we must comprehend how our cells function in order to assist them in correcting the issues caused by the production of faulty proteins. This type of inquiry is referred to as 'fundamental research.' In our laboratory, we do not engage with patients or animal models. We work with cells that live and reproduce in plastic boxes," added Dr Maurizio Molinari.

In the IRB laboratories, research is conducted at a cellular level on groups of diseases rather than on single pathologies. "Laboratories like mine study the mechanisms that our cells use to produce proteins and the mechanisms that are activated to destroy defective proteins. Proper regulation of these processes enables cells to prevent errors that could compromise the functioning of our body's organs. We are studying diseases that differ significantly from one another. Our aim is to discover what these diseases have in common at the cellular level so that one day, we can propose remedies applicable to groups of diseases instead of targeting individual diseases. Thanks to the knowledge we are gradually acquiring and the publications that communicate it to the international scientific community, we are occasionally invited to participate in international consortia, often co-financed by European programmes and Swiss agencies such as Innosuisse - Swiss Innovation Agency, which aim to develop treatments for rare diseases," concluded the IRB's Laboratory Director.

The event on 28 February will take place in the main hall of Ospedale Civico in Lugano, from 6 pm. During the evening, which aims to raise awareness in society and politics about a reality that affects many families in Ticino, Claudio Del Don, president of the Association for Rare Genetic Diseases, State Councillor Raffaele De Rosa, Dr Maurizio Molinari and Dr Alessandro Ceschi, director of the Institute of Pharmacological Sciences, will speak. The event is organised by the Rare Diseases Centre of Southern Switzerland and the Rare Genetic Diseases Association.

The full interview with Dr Maurizio Molinari, by Mauro Spignesi for La Domenica, is available at the following link. (Italian only)