Significance of registries for furthering the cause of improving knowledge in rare diseases
In an article published in Source Code for Biology and Medicine, authors present the importance of Rare disease registries (RDRs) to improve knowledge and monitor interventions for rare diseases and dispel myths in RDR development as well as outline key criteria for robust and sustainable implementation of registries. The authors stress that if designed appropriately, patient and disease related information captured within them could become the basis for effective diagnosis and new therapies, which would greatly help in reaching the goals of International Rare Diseases Research Consortium (IRDiRC) by 2020. In this paper, the authors contend that “RDR requirements will also evolve in response to a number of factors such as changing disease definitions and diagnostic criteria, the requirement to integrate patient/disease information from advances in either biotechnology and/or phenotypying approaches, as well as the need to adapt dynamically to security and privacy concerns”.
According to the experiences of the authors, “designing a durable RDR which encompasses all the facts that will help that dramatically improves our understanding of disease processes through major advances in biotechnology and phenotyping, is a definite possibility”. The authors finally report that the data recorder in RDRs will not only help further research and development but also will cater towards improvements in clinical care policy and population-wide outcomes for all people with rare diseases. Read the open access article
