Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia
Abstract 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 e...
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| Language: | English |
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BMC
2025-06-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03828-8 |
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| author | 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 Damjan Osredkar |
| author_facet | 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 Damjan Osredkar |
| author_sort | Urh Grošelj |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-b0e46d08a6004a32936c0bbc9c5b9e2c |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-b0e46d08a6004a32936c0bbc9c5b9e2c2025-08-20T02:05:39ZengBMCOrphanet Journal of Rare Diseases1750-11722025-06-0120111010.1186/s13023-025-03828-8Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in SloveniaUrh Grošelj0Marko Kavčič1Ana Drole Torkar2Jan Kafol3Duško Lainšček4Roman Jerala5Matjaž Sever6Samo Zver7Gregor Serša8Maja Čemažar9Primož Strojan10Aleš Grošelj11Mojca Žerjav Tanšek12Špela Miroševič13Simona Ivančan14Tomaž Prelog15David Gosar16Jasna Oražem Mrak17Matej Mlinarič18Sara Bertok19Jernej Kovač20Jana Kodrič21Saba Battelino22Marko Pokorn23Alojz Ihan24Janez Jazbec25Tadej Battelino26Damjan Osredkar27Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaFaculty of Medicine, University of LjubljanaDepartment of Synthetic Biology and Immunology, National Institute of ChemistryDepartment of Synthetic Biology and Immunology, National Institute of ChemistryFaculty of Medicine, University of LjubljanaFaculty of Medicine, University of LjubljanaInstitute of Oncology LjubljanaInstitute of Oncology LjubljanaInstitute of Oncology LjubljanaDepartment of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre LjubljanaDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Family Medicine, Faculty of Medicine, University of LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaDepartment of Paediatric Neurology, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaChild Psychiatry Unit, University Children’s Hospital, University Medical Centre LjubljanaFaculty of Medicine, University of LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaInstitute of Microbiology and Immunology, Faculty of Medicine, University of LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaDepartment of Paediatrics, Faculty of Medicine, University of LjubljanaAbstract 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.https://doi.org/10.1186/s13023-025-03828-8Gene therapyRare genetic diseasesSloveniaCRISPR/Cas9CAR-T cellsCancer |
| spellingShingle | 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 Damjan Osredkar Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia Orphanet Journal of Rare Diseases Gene therapy Rare genetic diseases Slovenia CRISPR/Cas9 CAR-T cells Cancer |
| title | Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia |
| title_full | Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia |
| title_fullStr | Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia |
| title_full_unstemmed | Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia |
| title_short | Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia |
| title_sort | gene therapy of rare diseases as a milestone in medicine overview of the field and report on initial experiences in slovenia |
| topic | Gene therapy Rare genetic diseases Slovenia CRISPR/Cas9 CAR-T cells Cancer |
| url | https://doi.org/10.1186/s13023-025-03828-8 |
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