Bibliometric analysis of the influence of Genetics on rare diseases from the Pubmed and SCI databases (2000-2009)

This work focuses on the bibliometric analysis of journal articles published about two rare diseases that produce mental and behavioural disorders: Rett Syndrome and CADASIL, during the period 2000-2009. Furthermore, although Rett mainly affects females and the causes of both diseases are very different, they have in common that both are genetic disorders. To carry out the analysis we used two databases, Medline and SCI - each with its advantages and biases but complementary to each other - together with a multidimensional analysis methodology in order to determine the relationship between output about these rare diseases and the advances in the field of Genetics. The results show a clear difference in research patterns for the two diseases, but a convergence on a common factor, genetic influence, although this is more pronounced in the Rett syndrome. Finally it concludes that the great milestones in the field of genetics, both specific (mutations in genes that cause disease) and general (the human genome sequencing), significantly affect the scientific activity surrounding these rare diseases.