Gene Therapy for Rare Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Nuclei: Function, Transport and Receptors".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 6406

Special Issue Editor


E-Mail Website
Guest Editor
Biotech Research & Innovation Centre, The University of Copenhagen, Copenhagen, Denmark
Interests: Rho GTPases; keratinocytes; mouse disease models
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Each rare disease is infrequent, but since more than 7000 rare diseases exist, more than 300 million patients are suffering from rare diseases worldwide, making them an important unmet health problem. Most rare diseases are caused by mutations. Therefore, gene therapy is the only curative treatment possibility for patients with rare diseases. Stimulated by the development of CRISPR gene editing and improved viral vector technologies, many trials are currently ongoing to correct the defective genes of patients with rare diseases and improve their quality of life. On the other hand, many challenges still need to be overcome to make gene therapy a standard treatment option in the clinic. These challenges include the efficient targeting of relevant stem cells, the effectiveness of precise genome editing, and patient safety. The recent development of prime editing and base editing has further contributed to the excitement in the field and to the hope that a cure for many rare diseases is possible in the near future. This Special Issue will accept reviews and original research articles in the field of gene editing and rare diseases.

Prof. Dr. Cord Brakebusch
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 100 words) can be sent to the Editorial Office for announcement on this website.

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. Cells is an international peer-reviewed open access semimonthly 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 2700 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
  • gene editing
  • rare diseases
  • CRISPR
  • viral vectors
  • base editing
  • prime editing

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

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

Published Papers (3 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Review

14 pages, 1580 KiB  
Review
Regulation of Precise DNA Repair by Nuclear Actin Polymerization: A Chance for Improving Gene Therapy?
by Xiubin He and Cord Brakebusch
Cells 2024, 13(13), 1093; https://doi.org/10.3390/cells13131093 - 24 Jun 2024
Viewed by 1012
Abstract
Although more difficult to detect than in the cytoplasm, it is now clear that actin polymerization occurs in the nucleus and that it plays a role in the specific processes of the nucleus such as transcription, replication, and DNA repair. A number of [...] Read more.
Although more difficult to detect than in the cytoplasm, it is now clear that actin polymerization occurs in the nucleus and that it plays a role in the specific processes of the nucleus such as transcription, replication, and DNA repair. A number of studies suggest that nuclear actin polymerization is promoting precise DNA repair by homologous recombination, which could potentially be of help for precise genome editing and gene therapy. This review summarizes the findings and describes the challenges and chances in the field. Full article
(This article belongs to the Special Issue Gene Therapy for Rare Diseases)
Show Figures

Figure 1

15 pages, 667 KiB  
Review
Advancements in Hematopoietic Stem Cell Gene Therapy: A Journey of Progress for Viral Transduction
by Aurora Giommetti and Eleni Papanikolaou
Cells 2024, 13(12), 1039; https://doi.org/10.3390/cells13121039 - 15 Jun 2024
Viewed by 2708
Abstract
Hematopoietic stem cell (HSC) transduction has undergone remarkable advancements in recent years, revolutionizing the landscape of gene therapy specifically for inherited hematologic disorders. The evolution of viral vector-based transduction technologies, including retroviral and lentiviral vectors, has significantly enhanced the efficiency and specificity of [...] Read more.
Hematopoietic stem cell (HSC) transduction has undergone remarkable advancements in recent years, revolutionizing the landscape of gene therapy specifically for inherited hematologic disorders. The evolution of viral vector-based transduction technologies, including retroviral and lentiviral vectors, has significantly enhanced the efficiency and specificity of gene delivery to HSCs. Additionally, the emergence of small molecules acting as transduction enhancers has addressed critical barriers in HSC transduction, unlocking new possibilities for therapeutic intervention. Furthermore, the advent of gene editing technologies, notably CRISPR-Cas9, has empowered precise genome modification in HSCs, paving the way for targeted gene correction. These striking progresses have led to the clinical approval of medicinal products based on engineered HSCs with impressive therapeutic benefits for patients. This review provides a comprehensive overview of the collective progress in HSC transduction via viral vectors for gene therapy with a specific focus on transduction enhancers, highlighting the latest key developments, challenges, and future directions towards personalized and curative treatments. Full article
(This article belongs to the Special Issue Gene Therapy for Rare Diseases)
Show Figures

Figure 1

16 pages, 2723 KiB  
Review
Towards a Cure for Diamond–Blackfan Anemia: Views on Gene Therapy
by Matilde Vale, Jan Prochazka and Radislav Sedlacek
Cells 2024, 13(11), 920; https://doi.org/10.3390/cells13110920 - 27 May 2024
Viewed by 2184
Abstract
Diamond–Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow’s ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in ribosomal protein (RP) genes, classifying it as a [...] Read more.
Diamond–Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow’s ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in ribosomal protein (RP) genes, classifying it as a ribosomopathy, with RPS19 being the most frequently mutated gene. Non-RP mutations, such as in GATA1, have also been identified. Current treatments include glucocorticosteroids, blood transfusions, and hematopoietic stem cell transplantation (HSCT), with HSCT being the only curative option, albeit with challenges like donor availability and immunological complications. Gene therapy, particularly using lentiviral vectors and CRISPR/Cas9 technology, emerges as a promising alternative. This review explores the potential of gene therapy, focusing on lentiviral vectors and CRISPR/Cas9 technology in combination with non-integrating lentiviral vectors, as a curative solution for DBA. It highlights the transformative advancements in the treatment landscape of DBA, offering hope for individuals affected by this condition. Full article
(This article belongs to the Special Issue Gene Therapy for Rare Diseases)
Show Figures

Figure 1

Back to TopTop