How strategic investment transformed Europe into a global leader in medical innovation
In a hospital in Milan, a child with a once-fatal genetic disease not only survives but learns to walk and talk, thanks to a single treatment that corrected the very blueprint of their cells.
This isn't science fiction; it's the result of decades of strategic research and investment supported by the European Union. Gene therapy, the science of using genetic material to treat or prevent disease, represents one of the most significant medical revolutions of our time.
Total EU Investment
Research Projects
Participating Organizations
By developing treatments that address the root cause of diseases at a genetic level, this field has turned previously unmanageable conditions into treatable ones. For over 15 years, the EU has strategically championed this field, investing more than €272 million into collaborative research across 94 projects. This support has propelled Europe into an internationally leading position, turning brilliant science into real-world cures and demonstrating a resounding success story of innovation, collaboration, and hope 1 .
The European Union's approach to supporting gene therapy research is uniquely structured and highly collaborative. Its primary tool has been a series of multiannual Framework Programmes (FP) for research, with the 7th Framework Programme (FP7, 2007-2014) alone dedicating over €84.9 million to 16 collaborative gene therapy projects 1 .
These projects brought together 180 participating organizations, creating a powerful synergy between academia, clinicians, and industry 1 .
The EU's strategy has evolved from supporting basic research to aggressively pushing for clinical application. In the 1990s, funded projects tackled fundamental challenges like vector safety and controlled gene expression 1 .
Today, the focus has shifted dramatically. The latest calls for proposals often require the performance of clinical trials as an eligibility condition, ensuring that research translates into tangible patient benefits 1 .
Focus on vector safety and controlled gene expression
Moving discoveries from lab to clinical applications
First approved therapies and clinical trial requirements
Expanding to common diseases and personalized approaches
| Targeted Disease | Research Focus |
|---|---|
| Chronic Granulomatous Disease | Clinical trials for a new gene therapy protocol 1 |
| Fanconi's Anemia | Developing gene therapy treatments 1 |
| β-thalassemia | Clinical trials for a genetic blood disorder 1 |
| Age-related Macular Degeneration | Gene therapy approaches for a common cause of blindness 1 |
| Various Cancers | Multiple projects investigating gene-based treatments 1 |
This strategic push from the laboratory to the clinic yielded spectacular results. It culminated in a landmark moment for the entire field when the European Medicines Agency approved Glybera in 2012, the first gene therapy medicinal product in the Western world 1 . This approval was a powerful validation of the decades of research the EU had supported and solidified Europe's position as a global leader in advanced therapy.
At its core, gene therapy is a medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or by altering the biological properties of living cells 2 . Think of a faulty gene as a misprint in a crucial instruction manual for the body. Gene therapy provides the cell with a corrected copy of those instructions.
This is one of the most common approaches, particularly for recessive disorders where a single gene is not functional. It involves inserting a functional, therapeutic copy of a gene into a patient's cells using a "vector," typically a modified virus, to deliver the instructions 4 .
A more recent and precise technique, gene editing uses technologies like CRISPR-Cas9 to act as "molecular scissors." This system can directly correct the mutation within the existing defective gene in the cell's own DNA, effectively fixing the typo in the original instruction manual rather than adding a new one 4 .
For some diseases caused by a toxic, overactive gene, the goal is to turn the gene off. Approaches like RNA interference (RNAi) can be used to degrade the messenger RNA carrying the harmful instructions, preventing the production of the damaging protein 4 .
Delivers the genetic treatment directly into the patient's body. The therapeutic genes are packaged into vectors (often viruses) that are administered directly to the patient, targeting specific tissues or cells.
Involves extracting a patient's cells (such as blood or immune cells), genetically modifying them in the laboratory, and then infusing them back into the patient 4 . This latter approach has been particularly successful for blood and immune disorders.
A prime example of the success born from the EU's strategic support is the development of a gene therapy for metachromatic leukodystrophy (MLD). MLD is a rare, lethal neurodegenerative disease caused by mutations in a gene that leads to the toxic buildup of certain substances in the nervous system.
Affected children rapidly lose the ability to walk, talk, and interact, with most dying in childhood with only palliative care available 8 .
The therapy, developed over 20 years of research at the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan—a research effort backed by the EU's collaborative model—involves an ex vivo approach 8 .
Hematopoietic stem cells (HSCs) are collected from the patient's bone marrow or blood.
Cells are exposed to a lentiviral vector that delivers a functional copy of the faulty gene.
Patient receives mild chemotherapy to prepare bone marrow for new cells.
Genetically corrected HSCs are infused back into the patient 8 .
A landmark study published in the New England Journal of Medicine presented data on 39 children treated with this gene therapy, compared to 49 untreated patients. The results were transformative, confirming that early treatment can fundamentally alter the disease's trajectory 8 .
| Group of Patients | Event-Free Percentage (Severe Motor Impairment or Death) at 6-10 years | Event-Free Percentage (Severe Cognitive Impairment or Death) at 6-10 years |
|---|---|---|
| Late-infantile pre-symptomatic treated | 100% | 100% |
| Late-infantile untreated | 0% | 8.8% |
| Early-juvenile pre-symptomatic treated | 87.5% | 87.5% |
| Early-juvenile untreated | 11.2% | 7.5% |
Source: 8
"Most of the children treated before the onset of symptoms retained their ability to walk, whereas this was lost in the first years of life in all the children in the control group" 8 .
This therapy, now approved in the EU and available in Italy, has changed a once-hopeless prognosis into a story of survival and development.
The success of gene therapy relies on a sophisticated set of tools and technologies that allow scientists to modify genetic material with precision. The following table outlines some of the most critical "research reagent solutions" essential to this field.
| Tool/Reagent | Function in Gene Therapy |
|---|---|
| Viral Vectors (e.g., Lentivirus, AAV) | Engineered viruses used as vehicles to safely deliver therapeutic genes into human cells. Lentiviruses are often used ex vivo for blood cells, while Adeno-Associated Viruses (AAV) are common for in vivo delivery 4 5 . |
| CRISPR-Cas9 System | A highly precise gene-editing tool. The Cas9 enzyme acts as "molecular scissors" to cut DNA, while a guide RNA (gRNA) directs it to the exact spot in the genome to make a correction 4 . |
| Haematopoietic Stem Cells (HSCs) | The raw material for ex vivo therapies. These blood-forming cells are extracted from patients, genetically modified, and then reinfused to produce a lifelong supply of corrected cells 5 . |
| Lipid Nanoparticles (LNPs) | Non-viral delivery vehicles. These tiny fat-like particles can encapsulate and deliver genetic material like mRNA or siRNA into cells, protecting it from degradation . |
| Cell Culture Media & Growth Factors | Essential reagents for keeping cells alive and healthy outside the body during the ex vivo modification process 5 . |
The European Union's sustained and strategic investment in gene therapy has unequivocally paid off.
From the first approved therapy, Glybera, to life-changing treatments for diseases like MLD, ADA-SCID, and β-thalassemia, the EU has cultivated a world-leading ecosystem that transforms cutting-edge science into medical reality 1 5 .
The legacy of this success continues under Horizon Europe, the EU's current research and innovation framework for 2021-2027. This program continues to support the development of innovative tools and SME-targeted topics, with potential applications not only for rare disorders but also for major health challenges linked to an aging population, such as cancer, diabetes, and neurodegenerative diseases 1 .