Gene therapy for rare diseases: first Slovenian experiences published in a leading international journal

We are pleased to announce the publication of a new scientific article in the Orphanet Journal of Rare Diseases, titled: "Gene therapy of rare diseases as a milestone in medicine – overview of the field and report on initial experiences in Slovenia".

The article is available here.

This publication provides a comprehensive overview of the current state of gene therapy for rare diseases, addressing clinical advances, ethical and regulatory aspects, and practical insights from real-life applications. Special attention is given to Slovenia’s first experiences with gene therapy in the treatment of inborn errors of metabolism, spinal muscular atrophy (SMA), CTNNB1 syndrome, and interleukin-12–based cancer immunotherapy.

The collaborators from Faculty of Medicine, University of Ljubljana (UL MF), played a central role in this effort. As Slovenia’s leading academic, clinical, and research institution, UL MF coordinated multidisciplinary collaboration in diagnostics, treatment planning, clinical implementation, and ethical reflection. The contribution of experts from pediatrics, genetics, immunology, oncology, neurology, and bioethics highlights the faculty’s pivotal role in advancing translational medicine in Slovenia.

The article also emphasizes the importance of connecting hospitals, research teams, and universities in Slovenia and internationally. The successful clinical cases presented demonstrate that even smaller countries can implement cutting-edge therapies through effective interdisciplinary collaboration.

The publication is the result of genuine team effort by the following authors: Urh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem Mrak, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, and Damjan Osredkar.

We hope this contribution will support the continued development of a national strategy for gene therapy and foster further international collaboration in the field of rare diseases.