The research output of rod-cone dystrophy genetics

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 175
• Main Authors: Jaffal, Lama, Mrad, Zamzam, Ibrahim, Mariam, Salami, Ali, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 23.04.2022; BioMed Central; BMC
• Subjects: Bibliometrics; China; Cone-Rod Dystrophies; Dystrophy; Genetic aspects; Genetic counseling; Genetics; Genomes; Genotype & phenotype; Human development index; Humans; India; Japan; Life Sciences; Medical research; Mutation; Next-generation sequencing; Rare diseases; Research output; Retinitis pigmentosa; Review; Rod-cone dystrophy; United Kingdom; United Kingdom; China; Japan; India; Lebanon; United Kingdom > UK; Belgium; United States > US; Israel; Switzerland; Germany; Next-generation sequencing; Rod-cone dystrophy; Human development index; Research output; Rod-cone dystrophy Research output Human development index Next-generation sequencing
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02318-5

Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development index (HDI), by analyzing publication frequency and citations, the choice of journals and publishers, since 2000 to date. We have also analyzed the use of next-generation sequencing (NGS) in publications originating from countries with different HDIs. One thousand four hundred articles focusing on non-syndromic RCD were downloaded and analyzed. Citations and published articles were adjusted per one million individuals. The research output is significantly higher in very high HDI countries (86% of the total publications and 95% of the citations) than countries with lower HDIs in all aspects. High and medium HDI countries published together 13.6% of the total articles worldwide and received 4.6% of the citations. On the publication level, the USA (26%), United Kingdom (10%), and Japan (7%) were the top 3 among very high HDI countries, while China (6%) and India (2%) ranked first in high and medium HDI countries respectively. On the citation level, similar profiles were found. Following adjustment for population size, Switzerland (~14%), Jordan (~ 1%) and Morocco (<0.2%) showed the highest rates of publications in very high, high and medium HDI countries respectively. Very high HDI countries published 71% of their papers in first quartile journals (first quartile in Scimago journal rank; Q1), and 23% in Q2 journals. High and medium HDI countries showed a similar profile in quartiles with ~ 40% of their papers published in Q1 journals and ~ 30% in Q2 journals. The first publication using NGS was issued in 2009 in very high HDI countries, while it appeared in 2012 in high HDI countries, and in 2017 in medium HDI countries, with a respective lag of 3 to 8 years compared to very high HDI countries. A profound gap exists between very high HDI countries and the rest of the world. To fill it in, we propose implementing NGS, supporting international collaborations, building capacities and infrastructures, improving accessibility of patients to services, and increasing national and international funding.