ArticleIntractable & rare diseases research2025
A bibliometric study of rare diseases in English and Chinese databases from 1985 to 2024 based on CiteSpace.
Article in Intractable & rare diseases research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).Orphanet journal of rare diseases · 2025Article
- Visual Research of Global Orphan Drug from a Bibliometric Perspective.Drug design, development and therapy · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study utilizes CiteSpace (version 6.2.R3) to visually analyze literature related to rare diseases, summarizing the current research status and hotspots in the field. The goal was to provide broader perspectives and references for researchers in rare diseases. A comprehensive search for relevant literature in the rare diseases domain was conducted through the China Knowledge Network (CNKI) and Web of Science (WOS), spanning the years 1985 to 2024. Then, CiteSpace software was utilized to create a visual map of the annual publication volume, authors, institutions, keywords, and other content. After screening, 2,293 Chinese and 2,262 English articles were included in the study. Over the last several decades, the diagnosis and treatment of rare diseases have been a common research focus in both China and foreign countries, but there is a significant research depth and breadth gap. In China, there is a shortage of core authors and high-quality literature, and the level of collaboration among research teams is significantly lower compared to the robust international cooperation between authors and institutions. High-frequency and central keywords in the field include "orphan drugs", "children", and "genetic mutations", reflecting research hotspots in this domain. Research on rare diseases has been increasing annually, with key directions focusing on orphan drug development, novel therapeutic agents, genetic therapies, and healthcare security. In the research field of rare diseases, emphasis should be placed on early detection, early prevention, and early treatment. The application of genetic diagnostic techniques in clinical practice will have a broader prospect. This will be one of the direction for future research in this area.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.