Mapping the landscape of Hutchinson-Gilford Progeria Syndrome research: A bibliometric analysis (1995-2025)

Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare hereditary condition caused by germline de novo mutations of LMNA gene that synthesizes the toxic protein progerin and, therefore, compromises nuclear structure and expedites aging of cells. HGPS is fairly rare (estimated as 1 in 20 million people), but triggered a significant amount of academic interest due to the interplay between the disease and both research into rare diseases and studies of the aging process more generally.

This bibliometric research is a regular analysis of the world literature on HGPS from 1995 to 2025. This is read to impersonate the quantity of publications, metrics of citations, collaboration among authors, contributions of institutions, and themes that provide a revelation of the pattern of interest, productivity, and influence over time.

The search strategies and selection criteria were predetermined before retrieving articles related to HGPS in Google Scholar, PubMed, and Dimensions. Reviews, editorials, proceedings, book chapters, and commentaries by the faculty of 1000 were not included. To visualize co-authorship networks, as well as thematic tendencies, bibliometric indicators, such as the number of publications, their citation frequency, and author affiliations, were processed with the help of Dimensions.

There were 737 publications in the English language that fit the criteria. Since 2018, the research has shown a significant rise, peaking in 2021. Notable researchers are Francis S. Collins, Leslie B. Gordon, and Michael R. Erdos, whilst major institutions are the NHGRI, UCLA, Brown University, Karolinska Institute, and CNIC. It was observed that there are thirteen different research clusters with major areas involving cardiovascular aging, nuclear envelope biology, senescence, and gene therapy. Papers that have the most impact explain LMNA mutations, progerin biology, and therapeutic methods, including farnesyltransferase inhibitors and gene-editing tools.

This bibliometric survey defines the age and focus of the research into HGPS, with published research being highly concentrated and collaborative and showing possible future research directions in regenerative therapy and epigenetic control. Although the modern knowledge about the progeria condition has grown significantly, there is still a significant drawback of the psychosocial research, prolonged therapy trials, and equity in research participation globally. The results thus highlight the need for multidisciplinary and cross-country collaboration in case science on progeria and wider related research on aging keeps evolving.