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Advances in Gene Therapy
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Advances in Gene Therapy

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 10 May 2026 | Viewed by 3894

Special Issue Editor

Dr. Ryan Butler

E-Mail Website
Guest Editor
Departments of Psychiatry and Pediatrics, O’Donnell Brain Institute, UT Southwestern Medical Center, Dallas, TX 75390, USA
Interests: gene therapy; rare diseases; viral vectors; neuroscience

Special Issue Information

Dear Colleagues,

Genetic disorders present mild to fatal consequences to individuals, with limitations imposed beyond the patient to family members and with tremendously high societal costs. Gene therapy represents one of the most promising developments in modern medicine. The rise in new technologies in gene-based medicines is rapidly transforming the medical field from one of diagnosis and supportive care to one of numerous clinical trials and an increasing number of approved treatments.

Gene therapy encompasses all work aimed at editing DNA or altering the transcript or epigenetic profile to incur a therapeutic benefit. These include studies relating to gene augmentation therapy, gene editing, or gene silencing.

For almost five decades, researchers have sought to manipulate the natural infection process of viruses to incorporate exogenous, corrective DNA into host cells. Along the way, this field has expanded to include the direct editing of DNA, RNA silencing, and methylation editing, resulting in an altered epigenetic profile.

As of 2023, approximately 3900 gene therapy clinical trials have been completed. Each year, new therapies are brought onto the market with the potential to save the lives of numerous patients suffering from rare diseases.

We solicit manuscripts relating to gene augmentation, gene editing, gene silencing, and epigenetic manipulation, where the intent is to develop therapy for rare diseases. We are also soliciting manuscripts that seek to enhance the safety profile of gene therapy interventions.

Dr. Ryan Butler
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gene therapy
  • rare diseases
  • viral vectors
  • RNA silencing
  • gene editing
  • methylation editing

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

12 pages, 1354 KB  
Article
Inhibitory Effect of Interleukin-24 on Programmed Death Ligand 1 Expression via a Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2-Dependent Pathway in Human Triple-Negative Breast Cancer
by Simira Smith, Anastassiya Kim, Alphons Sony, Maryam Aslam, Elouise Torruella, Columba de la Parra and Moira Sauane
Genes 2026, 17(3), 339; https://doi.org/10.3390/genes17030339 - 19 Mar 2026
Viewed by 538
Abstract
Background/Objectives: Programmed death ligand 1 (PD-L1) is often overexpressed in triple-negative breast cancer (TNBC), where it helps the tumor evade the immune system and promotes tumor growth. Interleukin-24 (IL-24) is recognized for its anti-tumor activity, although its role in immune regulation [...] Read more.
Background/Objectives: Programmed death ligand 1 (PD-L1) is often overexpressed in triple-negative breast cancer (TNBC), where it helps the tumor evade the immune system and promotes tumor growth. Interleukin-24 (IL-24) is recognized for its anti-tumor activity, although its role in immune regulation remains unclear. In this study, we examined the role of IL-24 in regulating PD-L1 and its anti-cancer activity in TNBC cells. Methods: The study used TNBC cell lines treated with IL-24, delivered via a non-replicating adenovirus vector expressing the IL-24 gene. Assays included MTT for cell viability, Annexin V for apoptosis, Western blot for protein analysis, and qRT-PCR for mRNA analysis. Results: We found that the highly aggressive MDA-MB-231 cells had significantly higher PD-L1 levels. We discovered that treatment with IL-24 reduced cell growth, induced apoptosis, and significantly decreased PD-L1 protein levels in MDA-MB-231 cells. Mechanistically, we identified PKR, also known as eukaryotic translation initiation factor 2 alpha kinase 2, as a key mediator of IL-24–induced PD-L1 suppression. Additionally, doxorubicin, a primary chemotherapy drug used to treat triple-negative breast cancer, decreases PD-L1 expression and increases the sensitivity when combined with IL-24. Conclusions: In this study, we show that IL-24 decreases PD-L1 expression in MDA-MB-231 cells through PKR activation, enhances the anti-tumor effects of Doxorubicin, and may enable lower doses that reduce toxicity and further decrease PD-L1 levels. These findings suggest that IL-24 could serve as a valuable target for therapeutic intervention and suggest that it can improve doxorubicin’s effectiveness against aggressive breast cancer. Full article
(This article belongs to the Special Issue Advances in Gene Therapy)
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36 pages, 70918 KB  
Article
A Head-to-Head Comparison of AAV9 Biodistribution in Mice: Routes of Administration and Age Dependence
by Matthew Rioux, Andrea Boitnott, Satvik Paduri, Yuhui Hu and Steven J. Gray
Genes 2026, 17(2), 213; https://doi.org/10.3390/genes17020213 - 9 Feb 2026
Viewed by 1076
Abstract
Background/Objectives: Adeno-associated virus serotype 9 (AAV9) can cross the blood–brain barrier, making it widely used as a gene delivery vector for central nervous system (CNS) applications. Despite extensive use of AAV9 in translational research, variability in study designs makes cross-comparisons difficult to interpret. [...] Read more.
Background/Objectives: Adeno-associated virus serotype 9 (AAV9) can cross the blood–brain barrier, making it widely used as a gene delivery vector for central nervous system (CNS) applications. Despite extensive use of AAV9 in translational research, variability in study designs makes cross-comparisons difficult to interpret. We designed a study in mice to generate a resource of AAV9 biodistribution across tissues for commonly used routes of administration and treatment ages. Methods: Lumbar intrathecal, intracerebroventricular, lumbar intrathecal and intracerebroventricular combination, or intravenous injections of vehicle or AAV9/GFP were performed in C57BL/6J male and female mice on postnatal day 1, 5, 10, or 28. Organs were collected at postnatal day 56 and biodistribution of AAV9/GFP was evaluated by quantifying GFP protein expression and vector genome copy number. Results: Direct cerebrospinal fluid injections led to higher transgene expression levels in the brain and spinal cord compared to intravenous administration but did not de-target transgene expression in peripheral tissues. Lumbar intrathecal and intracerebroventricular combination injections resulted in expression throughout the CNS but did not substantially increase expression in either the spinal cord or brain beyond the levels obtained with the respective single routes. Treatment age had effects on AAV9 biodistribution regardless of the route of administration, especially in the brain, eye, and liver. Conclusions: Our results provide the necessary biodistribution data to establish a standardized benchmark for comparison of the current gold standard AAV9 to next generation viral vectors. Additionally, this body of work can provide valuable insights for the design of translational gene therapy studies. Full article
(This article belongs to the Special Issue Advances in Gene Therapy)
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16 pages, 938 KB  
Article
Altered Behavior and Neuronal Activity with Paternal Snord116 Deletion
by Daniel S. Scott, Violeta Zaric, Carol A. Tamminga and Ryan K. Butler
Genes 2025, 16(8), 863; https://doi.org/10.3390/genes16080863 - 24 Jul 2025
Viewed by 1399
Abstract
Background/Objectives: Prader–Willi Syndrome (PWS) is a neurodevelopmental disease associated with multiple behavioral features, including a prevalence for psychosis. The genetic causes of PWS are well characterized and involve the silencing or deletion of the paternal copy of a region of chromosome 15q11–13. One [...] Read more.
Background/Objectives: Prader–Willi Syndrome (PWS) is a neurodevelopmental disease associated with multiple behavioral features, including a prevalence for psychosis. The genetic causes of PWS are well characterized and involve the silencing or deletion of the paternal copy of a region of chromosome 15q11–13. One gene within this region, Snord116, a non-coding RNA, has been determined to have a determinant role in the manifestation of PWS. However, it remains unclear as to how the deletion of this allele can affect activity in the brain and influence psychosis-like behaviors. Methods: In this study, we assessed the effects of the microdeletion of the paternal copy of Snord116 on regional neural activity in psychosis-associated brain regions and psychosis-like behaviors in mice. Results: The results suggest that Snord116 deletion causes increased c-Fos expression in the hippocampus and anterior cingulate cortex. Snord116 deletion also results in behavioral phenotypes consistent with psychosis, most notably in stressful paradigms, with deficits in sensorimotor gating and augmented contextual as well as cued fear conditioning. Conclusions: These results implicate the targets of Snord116 in the presentation of a psychosis-like state with regional specificity. Full article
(This article belongs to the Special Issue Advances in Gene Therapy)
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