Sammy Basso, goodbye to the young-old man who never gave up in the name of research

Sammy Basso was suffering from a rare, or rather ultra-rare, genetic disease, which affects one person in approximately 4-5 million born due to a random mutation that changes just one letter of our genetic code out of the 3 billion that compose it. This letter alone is enough to change the meaning of a human being’s life: instead of aging physiologically like everyone else, he ages in an accelerated way. And so in a short time a 2-5 year old child finds himself in the body of an elderly person with all the clinical and health problems typical of an elderly person. But not the mind, it remains that of the chronological age.

Aging, from a physiological point of view, is defined as “the progressive functional decline of tissues responsible for an increased risk of disease or death”. It is a gradual and irreversible process that affects all living species and whose progress, particularly in humans, is easily identifiable even at first sight. In fact, just think of the appearance of white hair and wrinkles, the loss of muscle mass and blemishes on the skin.

Although aging is a shared phenomenon, not all living species manifest it in the same way and at the same time. Some insects live a few hours, while Galápagos tortoises live 100 to 150 years. Kids with progeria like Sammy live on average 14-15 years. Sammy lived for 28 years, a long time that allowed him to live, study, learn and help research. Yes, precisely the research that Sammy loved to the point of becoming a protagonist not only by graduating in Science and working in the laboratory, but also by promoting research, stimulating institutions, creating associations and organizing conferences, and above all making his illness known to the world. When, around the tenth year of life, we communicated the diagnostic confirmation to the family by reading Sammy’s DNA, we were aware that we were giving the parents no hope. However, I tried to hearten and encourage them precisely because since 2002, with the discovery that the Lmna gene when mutated is responsible not only for progeria but for other rare diseases with premature aging, more possibilities for research and treatment were opened up in this way.

Sammy courageously agreed not only to undergo these new therapies, but asked, wanted to know why, what this medicine does, and how it could delay aging. The effects of the disease on individuals are profound, particularly in the context of their cognitive and emotional development. While children with progeria exhibit physical characteristics of accelerated aging, their cognitive functions typically remain intact, leading to a unique juxtaposition of youthful minds within aged bodies. Sammy understood that he was different from other peers and, despite feeling the emotional burden, showed remarkable resilience and adaptability, promoting empathy and understanding. Scientific interest in his disease provided purpose for him and his family. Indeed, involvement in clinical trials and research has undoubtedly helped Sammy give us initiative and hope. Perhaps it was precisely this curiosity that led him to ask me to come to Rome to my laboratory to obtain a research doctorate. Sammy won’t come, he won’t be able to contribute to the knowledge of this pathology and he won’t be able to help us find a cure.

The path of science is also made up of disappointments and pain. It is not a defeat, but a moment of reflection. May Sammy rest in peace, and may all great scientists continue on the path to knowledge.

* University of Rome Tor Vergata