| Literature DB >> 33426479 |
Yaffa R Rubinstein1, Peter N Robinson2, William A Gahl3, Paul Avillach4, Gareth Baynam5, Helene Cederroth6, Rebecca M Goodwin7, Stephen C Groft8, Mats G Hansson9, Nomi L Harris10, Vojtech Huser11, Deborah Mascalzoni12, Julie A McMurry13, Matthew Might14, Christoffer Nellaker15, Barend Mons16, Dina N Paltoo7, Jonathan Pevsner17, Manuel Posada18, Alison P Rockett-Frase19, Marco Roos20, Tamar B Rubinstein21, Domenica Taruscio22, Esther van Enckevort23, Melissa A Haendel13.
Abstract
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally. Published by Oxford University Press on behalf of the American Medical Informatics Association 2020.Entities:
Keywords: FAIR data; common data elements; data standards; ontology; open science; rare disease patients
Year: 2020 PMID： 33426479 PMCID： PMC7660964 DOI： 10.1093/jamiaopen/ooaa030
Source DB: PubMed Journal: JAMIA Open ISSN： 2574-2531