The evolving landscape of gene editing therapies for human genetic diseases: a twenty-year bibliometric analysis.

BACKGROUND/

OBJECTIVES

Despite the transformative potential of gene editing technologies, a systematic mapping of their translational trajectory from bench to bedside remains scarce. This bibliometric analysis aims to chart the bench-to-bedside evolution, identify leading disease targets and therapeutic strategies, and uncover emerging clinical trends and challenges.

METHODS

We analyzed 1,571 peer-reviewed articles and reviews explicitly addressing gene editing therapies for human genetic diseases, published between 2005 and 2025 and retrieved from Web of Science Core Collection and Scopus. Science mapping was conducted using CiteSpace and VOSviewer to visualize collaboration networks, thematic clusters, and research fronts.

RESULTS

Publication output followed a three-phase exponential growth: engineered nucleases (2005-2012), CRISPR revolution (2013-2018), and precision translation (2019-2025). The United States and China dominated productivity; Harvard and the University of California were key institutional hubs. Hematologic disorders-particularly sickle cell disease and β-thalassemia-constituted the primary disease focus. Emerging frontiers include base and prime editing, epigenetic modulation, multiplex editing, and AI-assisted design. Collaboration networks remain predominantly national, with limited global integration.

CONCLUSIONS

This study delineates the rapid evolution of gene editing therapies, highlighting robust clinical translation for hematological conditions while exposing critical gaps in non-hematopoietic tissues, delivery efficiency, long-term safety, and equitable access. These findings provide a strategic roadmap to broaden the therapeutic reach of gene editing across diverse disease domains.