2026-08-29T15:33:50Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/149162025-06-10T09:13:27Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Rubinstein, Yaffa R author Robinson, Peter N author Gahl, William A author Avillach, Paul author Baynam, Gareth author Cederroth, Helene author Goodwin, Rebecca M author Groft, Stephen C author Hansson, Mats G author Harris, Nomi L author Huser, Vojtech author Mascalzoni, Deborah author McMurry, Julie A author Might, Matthew author Nellaker, Christoffer author Mons, Barend author Paltoo, Dina N author Pevsner, Jonathan author Posada De la Paz, Manuel author Rockett-Frase, Alison P author Roos, Marco author Rubinstein, Tamar B author Taruscio, Domenica author van Enckevort, Esther author Haendel, Melissa A author 2020-09-11 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. JAMIA Open. 2020 Sep 11;3(3):472-486. 10.1093/jamiaopen/ooaa030 2574-2531 JAMIA Open 33426479 http://hdl.handle.net/20.500.12105/14916 FAIR data Common data elements Data standards Ontology Open Science Rare disease patients The case for open science: rare diseases