1. Gene therapy of rare diseases as a milestone in medicine : overview of the field and report on initial experiences in SloveniaUrh 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, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar, 2025, pregledni znanstveni članek Povzetek: Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, mostly utilizing viral vectors to deliver therapeutic genes into target cells. However, refining these techniques is essential to overcome challenges and complications associated with gene therapy to ensure long-term safety and efficacy. Slovenia has witnessed significant advancements in this field since 2018, marked by successful gene therapy trials and treatments for various rare diseases. Significant strides have been made in the field of gene therapy in Slovenia, treating patients with spinal muscular atrophy and rare metabolic disorders, including the pioneering work on CTNNB1 syndrome. Additionally, immune gene therapy, exemplified by IL-12 adjuvant therapy for cancer, has been a focus of research in Slovenia. Through patient-centred initiatives and international collaborations, researchers in Slovenia are advancing preclinical research and clinical trials, paving the way for accessible gene therapies. Establishing clinical infrastructure and genomic diagnostics for rare diseases is crucial for gene therapy implementation. Efforts in this regard in Slovenia, including the establishment of a Centre for Rare Diseases, Centre for the Technologies of Gene and Cell Therapy, and rapid genomic diagnostics, demonstrate a commitment to comprehensive patient care. Despite the promises of gene therapy, challenges remain, including cost, distribution, efficacy, and long-term safety. Collaborative efforts are essential to address these challenges and ensure equitable access to innovative therapies for patients with rare diseases.
Ključne besede: gene therapy, rare genetic diseases, Slovenia, CAR-T cells, cancer, immune gene therapy
Objavljeno v DiRROS: 04.12.2025; Ogledov: 160; Prenosov: 124
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2. Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndromeNina Žakelj, David Gosar, Špela Miroševič, Stephan Sanders, Alicia Ljungdhal, Sayeh Kohani, Shouhe Huang, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Jasna Oražem, Damjan Osredkar, 2025, izvirni znanstveni članek Povzetek: CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aims to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical phenotypes using standardized measures and explore potential genotype-phenotype correlations. In this cross-sectional cohort study, individuals diagnosed with CTNNB1 neurodevelopmental syndrome underwent structured interviews using standardized scales to evaluate motor skills, speech, communication, feeding abilities, visual function, neurodevelopment, and psychopathology. Genetic variants were analyzed, and in a subset of cases, the impact of β-catenin variants on the Wnt/β-catenin signaling pathway was assessed. Across the 127 included participants (mean age: 70 months; range: 7–242 months) from 20 countries, we identified 88 different variants of the CTNNB1 gene, 87 of which were predicted to lead to loss of CTNNB1 function. Functional assays demonstrated reduced Wnt signaling activity, including 11 variants that also exhibited a dominant-negative effect. One missense variant demonstrated a gain-of-function effect. Dominant-negative variants were not clearly associated with a distinct phenotype, however, those with missense variants presented a milder phenotype, including earlier achievement of independent walking, fewer motor impairments, better conceptual and social skills, improved communication, and fewer feeding difficulties. This study describes genetic, functional, and phenotypic characteristics in individuals with CTNNB1 neurodevelopmental syndrome. Further investigation into the genotypic and phenotypic characteristics of this syndrome and their interrelationships is essential to deepen our understanding of the disorder and inform the development of targeted therapies.
Ključne besede: CTNNB1 neurodevelopmental syndrome, β-catenin, genotype, phenotype, genotype-phenotype correlations
Objavljeno v DiRROS: 26.11.2025; Ogledov: 199; Prenosov: 75
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3. Engineering chimeric PCSK9 for a vaccine against atherosclerosisŠpela Malenšek, Duško Lainšček, Hana Esih, Sara Orehek, Tina Fink, Anja Golob Urbanc, Aleš Blinc, Roman Jerala, 2025, izvirni znanstveni članek Objavljeno v DiRROS: 26.09.2025; Ogledov: 304; Prenosov: 139
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4. Advanced delivery systems for gene editing : a comprehensive review from the GenE-HumDi COST action working groupAlessia Cavazza, Francisco J. Molina-Estévez, Álvaro Plaza Reyes, Victor Ronco, Asma Naseem, Špela Malenšek, Peter Pečan, Annalisa Santini, Paula Heredia, Araceli Aguilar-González, Duško Lainšček, 2025, pregledni znanstveni članek Ključne besede: delivery strategies, European cooperation in science and technology, COST, GenE-HumDi, genome editing, base editors, delivery systems, regulatory guidelines
Objavljeno v DiRROS: 29.08.2025; Ogledov: 446; Prenosov: 188
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6. Paving the way toward treatment solutions for CTNNB1 syndrome : a patient organization perspectiveŠpela Miroševič, Shivang Khandelwal, Emily Amerson, Effie Parks, Mariana Parks, Lauren Cochran, Nina Žakelj, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Matea Maruna, Roman Jerala, Damjan Osredkar, 2025, pregledni znanstveni članek Objavljeno v DiRROS: 28.03.2025; Ogledov: 1117; Prenosov: 366
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8. CTGCT, Centre of Excellence for the Technologies of Gene and Cell Therapy : collaborative translation of scientific discoveries into advanced treatments for neurological rare genetic diseases and cancerDarja Marolt Presen, Duško Lainšček, Jane Kinghorn, Zsolt Sebestyén, Jurgen Kuball, Leila Amini, Petra Reinke, Anke Fuchs, Roman Jerala, Mojca Benčina, 2025, drugi znanstveni članki Objavljeno v DiRROS: 13.01.2025; Ogledov: 817; Prenosov: 414
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9. Cytokine-armed pyroptosis induces antitumor immunity against diverse types of tumorsSara Orehek, Taja Železnik Ramuta, Duško Lainšček, Špela Malenšek, Martin Šala, Mojca Benčina, Roman Jerala, Iva Hafner Bratkovič, 2024, izvirni znanstveni članek Objavljeno v DiRROS: 07.01.2025; Ogledov: 874; Prenosov: 435
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10. Ultrasound-mediated spatial and temporal control of engineered cells in vivoFilip Ivanovski, Maja Meško, Tina Lebar, Marko Rupnik, Duško Lainšček, Miha Gradišek, Roman Jerala, Mojca Benčina, 2024, izvirni znanstveni članek Objavljeno v DiRROS: 09.09.2024; Ogledov: 1131; Prenosov: 4363
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