Alessandra Biffi did not set out to become a pioneer in gene therapy. A chance invitation from a haematology professor during her medical studies in Italy led her into a laboratory where she would spend decades perfecting techniques to rewrite the human genome. Today, she is one of Europe's most respected voices in the field, and she believes the technology is on the cusp of a major expansion.
“I have a lot of passion for what I do, and it's renewed every day, that's really the driver,” Biffi told European Pulse in an interview. Now chief of the paediatric haematology, oncology and stem cell transplant department at Padua University Hospital in northern Italy, she previously directed the gene therapy programme at the Dana-Farber Cancer Institute in Boston.
Beyond rare diseases
Gene therapy has long been associated with treating monogenic disorders—conditions caused by a single faulty gene. But Biffi argues that the field is now moving into far more common territory. Her current project, Immunostem, is a clinical study investigating whether gene therapy can prevent type 1 diabetes from fully establishing and progressing. The first phase of the trial began a few months ago, and she is cautiously optimistic.
“It could be another demonstration that gene therapy could be applicable to not ultra-rare conditions, to diseases that affect a large number of individuals, which is really the kind of opportunities that the field is looking for right now,” she explained. If successful, the approach could transform how we treat chronic diseases that affect millions across Europe and beyond.
Biffi's career has been defined by her work on some of the most challenging genetic conditions. One patient, in particular, remains close to her heart. He was the fourth child in a family where older siblings had died from metachromatic leukodystrophy, a rare degenerative disease that robs children of the ability to walk, speak, and see. Biffi and her colleagues at the San Raffaele Telethon Institute for Gene Therapy in Milan developed a gene therapy drug, now marketed as Libmeldy, that saved his life.
“He is now living in Italy, having a very healthy and successful life. He's attending school, and he's growing up. And clearly, I'm very, very emotionally bonded to him,” she said. That experience, she says, fuels her determination to make gene therapy accessible to more patients.
The role of artificial intelligence
As gene therapy accelerates, artificial intelligence is becoming an indispensable tool. In late September, AI company Anthropic announced that its Claude model had helped discover a new enzyme system that CEO Dario Amodei suggested could represent a novel gene editing mechanism. While experts remain sceptical about the practical implications, Biffi sees AI as a powerful ally.
“It has to be properly governed and managed, but I truly believe that in the field of discovery that is needed to develop new drugs, including gene therapy, AI could be of great relevance,” she said. “In every setting, AI could be a great asset for advancement.”
Biffi's work is part of a broader European push to harness gene editing for public health. As Europe's early warning systems for emerging health threats evolve, gene therapy could become a key tool in preventing and treating diseases that affect large populations.
The challenge, she acknowledges, is ensuring that these breakthroughs are not limited to wealthy nations or rare conditions. “The spectrum of conditions that are amenable to treatment by this kind of approach is enlarging to non-inherited conditions,” she noted, pointing to the potential for gene therapy to address diabetes, heart disease, and even some cancers.
For Biffi, the journey from a chance encounter in a Milanese lab to the forefront of a medical revolution has been driven by a simple belief: that science can change lives. As she puts it, “The patient that is mostly in my real emotional life is the first one I treated.” That personal connection, she says, is what keeps her going.
