Gene therapy for rare diseases

Gene therapies provide hope of a one-time treatment for numerous rare diseases that currently have no specific therapeutic options. Recent advances in genetic engineering and recombinant viral vector development have ignited interest in the field, with several gene therapy products gaining approval.  However, despite these successes, challenges in the field remain. This Collection explores recent improvements and applications of viral vector platforms for gene therapy delivery, with a focus on rare diseases.

In the first article, Gao and colleagues provide an overview of adeno-associated virus (AAV) vectors, discuss current trends and challenges in the field of AAV vector-mediated gene therapy and highlight key milestones that have enabled the transition of this platform to the bedside. In the second article, Cavazzana and colleagues assess the potential of using retroviral vectors for the genetic modification of haematopoietic stem and progenitor cells as an alternative to allogeneic transplantation in the treatment of rare inherited diseases, review clinical trial findings and address ongoing challenges in the field. In the final article, Tambuyzer and colleagues assess the respective strengths and limitations of the main therapeutic modalities — including gene therapy — as platforms for rare disease treatments, highlighting key characteristics, clinical successes and approvals.


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