JMIR Publications

ABSTRACT

Background:

Neurodegenerative diseases pose a critical global health burden due to their intricate pathogenesis and limited therapeutic options. While gene editing and stem cell therapy have shown transformative potential in treating these disorders, no one has systematically summarized the progress in this field using bibliometrics.

Objective:

Utilizing 1,821 publications from the Web of Science Core Collection (2005–2024), we conducted a multidimensional bibliometric analysis using tools such as CiteSpace and VOSviewer. Our analysis focused on the number of publications, national and institutional contributions, authors, journals, co-cited documents, and keywords to map the evolving research landscape.

Methods:

9,978 scholars from 90 countries and 2,515 institutions participated in this field, with annual publication output increasing from 28 in 2005 to 179 in 2024, demonstrating a stepwise growth pattern. The United States led significantly in the publication quantity (N=780), local total citation score (TLCS=2,784), and global total citation score (TGCS=40,009). China and India rank second and fifth, respectively, in terms of publication volume; however, their average citations are significantly lower than those of other countries. The perennial leaders, the University of California, San Francisco, and Johns Hopkins University, continue to produce outstanding research. Boulis NM, Bankiewicz KS, and Feldman EL are prominent contributors in the field. the most prestigious journal is MOLECULAR THERAPY. The intersection of immunology and genetics is the most powerful propeller of progress in the field. Notable topics in the field include nanotechnology, adeno associated virus, siRNA, intrathecal microsphere injection, autophagy, blood-brain barrier, CRISPR/Cas9, and induced pluripotent stem cells. Keyword burst analysis reveals that “Open label” has emerged as a research hotspot in recent years, reflecting the clinical therapeutic potential and translational trends of gene editing and stem cell therapy in the field of neurodegenerative diseases.

Results:

Anglo-American nations drive innovation in gene editing and stem cell therapies, whereas China and India require enhanced research quality. CRISPR/iPSCs and BBB-targeted delivery represent core frontiers, while "open label" studies signal clinical translation momentum. Future efforts must address technical bottlenecks and foster global consortia to standardize therapeutic protocols and accelerate bench-to-bedside translation.

Conclusions:

Anglo-American nations drive innovation in gene editing and stem cell therapies, whereas China and India require enhanced research quality. CRISPR/iPSCs and BBB-targeted delivery represent core frontiers, while "open label" studies signal clinical translation momentum. Future efforts must address technical bottlenecks and foster global consortia to standardize therapeutic protocols and accelerate bench-to-bedside translation.