From Genes to Therapies: Two Decades of Gene Therapy Research and the Birth of GeneT – Gene Therapy Centre of Excellence Portugal

Host

Miguel Seabra, PhD, Ocular low-cost gene therapy

Venue

Seminar Room

Abstract

Gene therapy has emerged as one of the most transformative revolutions in modern medicine, offering curative interventions, often after a single administration, for diseases that have long defied conventional treatment. This presentation traces the arc of the field: from the foundational insights of Darwin, Mendel, Watson and Crick, and recombinant DNA technology of Berg, Boyer and Cohen, through the pioneering work on viral vectors of Samulski and Naldini, to the landmark clinical approvals of Glybera, Luxturna, Zolgensma, Kymriah and Casgevy. It also reflects on the hard lessons learned from the death of Jesse Gelsinger to the insertional mutagenesis events in the SCID-X1 trial that shaped the regulatory rigour underpinning the field today.

Central to contemporary gene therapy are the viral and non-viral vectors and molecular cargoes that mediate gene addition, silencing, and editing. Yet despite breathtaking clinical progress, efficient and safe delivery to target tissues — the central nervous system in particular remains one of the most demanding unsolved challenges for the many rare neurological disorders still lacking effective treatment.

Over the past two decades, our group at the University of Coimbra has used Machado-Joseph disease (MJD/SCA3), the most common dominantly inherited ataxia, as a primary model to develop and validate gene therapy strategies for the brain, encompassing AAV-mediated silencing, CRISPR-based gene and base editing approaches, iPSC-derived disease models, and the identification of biomarkers for disease progression and therapeutic monitoring.

This translational vision extends beyond the laboratory. The second part of this talk introduces GeneT — Portugal's first Centre of Excellence in Gene Therapy, funded with €38 million under Horizon Europe's Teaming for Excellence programme. Built as an end-to-end translational engine integrating discovery research, GMP-grade viral vector manufacturing, and clinical trials, GeneT partners internationally with the Universities of Sheffield and Eastern Finland, and is supported by a portfolio of complementary projects — ARDAT, CINTECH, GeneH, GCure, ERDERA and CAPACITY — to accelerate the journey from bench to bedside.

Bio

Luís Pereira de Almeida is a Group Leader and coordinates CNC – Center for Neuroscience and Cell Biology and the Center for Innovative Biomedicine and Biotechnology – Associate Laboratory (CIBB) at the University of Coimbra, since 2020, and more recently the Gene Therapy Center of Excellence – GeneT,  He is Associate Professor at the Faculty of Pharmacy.

He has been working in the field of gene therapy since 1998, when he conducted his doctoral studies at the Gene Therapy Center in Lausanne CHUV, Switzerland, focusing on brain diseases such as Machado-Joseph disease.
He is a member of the Scientific Advisory Board of the Angelman Syndrome Alliance, the CTGCT International Advisory Board, and Adamastor Bioservices. He also serves on the Strategic Council of the Associated Laboratories Council.
Throughout his career, he has led over 40 projects, including GeneT – a Teaming project under the Horizon Europe program which established the new Gene Therapy Center of Excellence.

Register here.

About CR Colloquia Series

Champalimaud Research (CR) Colloquia Series is a seminar programme organised by the Champalimaud Centre for the Unknown to promote the discussion about the most interesting and significant questions in neuroscience and physiology & cancer with appointed speakers by the CR Community.