Friedreich’s Ataxia: research and personal stories to look toward the future

World Ataxia Awareness Day is a valuable opportunity to talk about ataxias: a group of neurological disorders that are still little known, which can progressively impair movement, balance, speech, and independence, significantly impacting the lives of patients and their families.

Since 2000, this day has served as a moment for awareness, sharing, and education, as well as a call to support the scientific work needed to create new therapeutic prospects and improve the quality of life for those living with these conditions.

To highlight the value of this commitment, we have gathered diverse and complementary voices: that of Prof. Yvan Torrente—Full Professor of Neurology at the University of Milan, neurologist at the Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, and researcher at the “Centro Dino Ferrari“—alongside the personal accounts of Marina and Giorgia, who both live with Friedreich’s Ataxia.

In his contribution, Prof. Torrente focuses specifically on Friedreich’s Ataxia, a disease at the heart of his research work.

“Friedreich’s Ataxia is a severe genetic disorder that affects not only the central nervous system but also other organs and tissues, progressively impairing movement and independence in affected individuals,” he explains.

In recent years, new avenues have opened up. Among these are gene therapy approaches—such as replacing the mutated gene with a healthy copy or repairing the altered gene—and the study of new molecules and experimental drugs designed to improve the function of organs and tissues affected by the disease.

Scientific progress also directly impacts patients’ daily lives. Over the past decade, personalized rehabilitation protocols, multidisciplinary approaches to prevent cardiac and respiratory complications, and increasingly targeted pathways in speech therapy have been developed.

The words of Marina and Giorgia serve as a powerful reminder of how much of a difference all of this can make.

“I believe that scientific research is extremely important for improving our condition,” says Marina. “Knowing that so many people are dedicated to these studies gives me the energy and hope to keep going.”

Giorgia also shares how the work of researchers serves as a source of trust and confidence: “Knowing that a cure could be possible, even if we don’t have one yet, is still very positive and helps you never give up.”

Their stories remind us that supporting research means contributing to the development of new treatments, as well as to care management that is increasingly attentive, multidisciplinary, and aligned with people’s needs.

“Supporting research means moving forward together,” concludes Prof. Torrente. “It means looking toward the future.”

Together for research, we turn dreams into the future.