Periodic Reporting for period 1 - GeneT (The Gene Therapy CoE at the Center of Portugal)
Período documentado: 2024-01-01 hasta 2025-06-30
Gene therapy is one of the most promising frontiers in modern medicine, offering curative treatments for diseases that until recently were considered untreatable. However, Europe faces significant challenges in making these therapies widely available: there are gaps in research capacity, bottlenecks in production, limited GMP-grade facilities, and insufficient translation from laboratory breakthroughs to clinical applications. The GeneT project addresses these challenges by creating a new Center of Excellence (CoE) in Gene Therapy based in the Centro region of Portugal. Anchored at the University of Coimbra, the CoE builds on existing strengths in Red Biotechnology and positions Portugal as an international hub for research, innovation, and manufacturing in this fast-growing field.
GeneT is implemented in partnership with two leading international institutions: the University of Sheffield, host of the UK Gene Therapy Innovation and Manufacturing Centre, and the University of Eastern Finland, home to the National Virus Vector Laboratory. Together with Coimbra’s University Hospital Centre, the consortium integrates expertise from research, clinical translation, and advanced manufacturing, enabling the development of therapies from discovery through to early-stage clinical trials.
The CoE is structured into three complementary units: a Research & Development Unit to drive innovative projects in gene therapy; an Engineering and Vector Production Unit with GMP capacity to manufacture viral vectors for clinical use; and a Clinical Translation Unit to advance investigator-initiated and early-phase clinical trials. By combining these capacities, GeneT aims to strengthen Europe’s leadership in gene therapy while creating a sustainable innovation ecosystem in Portugal.
GeneT is implemented in partnership with two leading international institutions: the University of Sheffield, host of the UK Gene Therapy Innovation and Manufacturing Centre, and the University of Eastern Finland, home to the National Virus Vector Laboratory. Together with Coimbra’s University Hospital Centre, the consortium integrates expertise from research, clinical translation, and advanced manufacturing, enabling the development of therapies from discovery through to early-stage clinical trials.
The CoE is structured into three complementary units: a Research & Development Unit to drive innovative projects in gene therapy; an Engineering and Vector Production Unit with GMP capacity to manufacture viral vectors for clinical use; and a Clinical Translation Unit to advance investigator-initiated and early-phase clinical trials. By combining these capacities, GeneT aims to strengthen Europe’s leadership in gene therapy while creating a sustainable innovation ecosystem in Portugal.
During its first 18 months, GeneT focused on laying the foundations for a fully operational and sustainable Center of Excellence. The legal and institutional framework was established, with the GeneT bylaws approved and governing bodies appointed (Regulation n.º 1030/2025). A dedicated five-year research and innovation strategy was defined, ensuring alignment between scientific ambition, clinical translation, and industrial engagement.
Key progress has been made across objectives. The existing research group on “Gene and Stem Cell Therapies for the Brain” was integrated into the CoE as its first resident team, and a new Group Leader has been recruited to expand the research portfolio. The “Viral Vector Research Infrastructure” was incorporated as the seed for the Vector Engineering and Manufacturing Unit, accompanied by the recruitment of its new Director. To strengthen innovation and sustainability, a Head of Technology Transfer and Financial Sustainability was appointed, and a competitive Funding & Grant Management Office has been set up, already supporting successful Horizon Europe applications worth nearly €5.4 million.
Capacity building has been another priority. A dedicated Advanced Training Officer was recruited, and the first Bio-Entrepreneurship course was held in Coimbra, equipping young scientists with skills in entrepreneurship, communication, and early-stage biotech investment. Training and mentoring activities are being structured into a coherent Career Development Programme to ensure a pipeline of highly qualified professionals in gene therapy.
On the technical side, benchmarking with partners led to the development of process flows, facility diagrams, and equipment lists for the future GMP-grade manufacturing unit. These technical blueprints will underpin the establishment of large-scale viral vector production facilities in Portugal, reducing bottlenecks and enabling clinical translation.
Outreach and stakeholder engagement have also been consolidated. GeneT has mapped and expanded its stakeholder network across academia, industry, regulatory authorities, healthcare providers, and patient associations, creating a strong foundation for its Affiliates Platform. Engagement activities, including public events and targeted communication campaigns, have enhanced the visibility of gene therapy and attracted new collaborations. Importantly, GeneT secured a major industry-sponsored research contract with Servier valued at €750,000, demonstrating its ability to attract high-value partnerships.
From a project management perspective, GeneT achieved most of the planned deliverables and milestones, with only minor delays. Out of 13 deliverables planned for this period, 10 were submitted, with three submitted shortly after their deadlines. Of the seven milestones foreseen, six were achieved, with one milestone slightly delayed. This performance demonstrates robust implementation and strong consortium coordination.
Altogether, these achievements mark decisive progress towards establishing GeneT as a reference in gene therapy, capable of combining cutting-edge research with industrial innovation and clinical translation for the benefit of patients and society.
Key progress has been made across objectives. The existing research group on “Gene and Stem Cell Therapies for the Brain” was integrated into the CoE as its first resident team, and a new Group Leader has been recruited to expand the research portfolio. The “Viral Vector Research Infrastructure” was incorporated as the seed for the Vector Engineering and Manufacturing Unit, accompanied by the recruitment of its new Director. To strengthen innovation and sustainability, a Head of Technology Transfer and Financial Sustainability was appointed, and a competitive Funding & Grant Management Office has been set up, already supporting successful Horizon Europe applications worth nearly €5.4 million.
Capacity building has been another priority. A dedicated Advanced Training Officer was recruited, and the first Bio-Entrepreneurship course was held in Coimbra, equipping young scientists with skills in entrepreneurship, communication, and early-stage biotech investment. Training and mentoring activities are being structured into a coherent Career Development Programme to ensure a pipeline of highly qualified professionals in gene therapy.
On the technical side, benchmarking with partners led to the development of process flows, facility diagrams, and equipment lists for the future GMP-grade manufacturing unit. These technical blueprints will underpin the establishment of large-scale viral vector production facilities in Portugal, reducing bottlenecks and enabling clinical translation.
Outreach and stakeholder engagement have also been consolidated. GeneT has mapped and expanded its stakeholder network across academia, industry, regulatory authorities, healthcare providers, and patient associations, creating a strong foundation for its Affiliates Platform. Engagement activities, including public events and targeted communication campaigns, have enhanced the visibility of gene therapy and attracted new collaborations. Importantly, GeneT secured a major industry-sponsored research contract with Servier valued at €750,000, demonstrating its ability to attract high-value partnerships.
From a project management perspective, GeneT achieved most of the planned deliverables and milestones, with only minor delays. Out of 13 deliverables planned for this period, 10 were submitted, with three submitted shortly after their deadlines. Of the seven milestones foreseen, six were achieved, with one milestone slightly delayed. This performance demonstrates robust implementation and strong consortium coordination.
Altogether, these achievements mark decisive progress towards establishing GeneT as a reference in gene therapy, capable of combining cutting-edge research with industrial innovation and clinical translation for the benefit of patients and society.
The GeneT project has achieved results with high scientific, societal, and technological potential, spanning advanced methods, discoveries, and translational tools. Key outputs include a dedicated unit for high-quality nucleic acid production, a semi-automated single-step AAV purification protocol, and RNA-based liposomes for targeted therapy. Scientific insights into the pathogenesis of the most common inherited ataxia worldwide (Spinocerebellar Ataxia type 3 - SCA3) were obtained, including tissue-specific ATXN3 splice variant expression, autophagy and oxidative stress deregulation by extracellular vesicles, longitudinal biomarker progression, and the influence of ATXN2 variants, informing therapeutic targets, patient stratification, and clinical trial design. Additional studies advanced oral vaccine adjuvants, quality-of-life assessments, and white-matter pathology mapping. These results benefit researchers, industry, clinicians, investors, and policy-makers, while their full uptake and translation will require further research and regulatory alignment, providing a strong foundation for future biomanufacturing and therapeutic applications.