1. The case for open science: rare diseases
- Author
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Tamar B. Rubinstein, Melissa A. Haendel, Jonathan Pevsner, Christoffer Nellåker, Paul Avillach, Domenica Taruscio, Stephen C. Groft, Rebecca M. Goodwin, Dina N. Paltoo, Nomi L. Harris, Peter N. Robinson, Vojtech Huser, Marco Roos, Julie A. McMurry, Mats G. Hansson, Matthew Might, Barend Mons, Yaffa R. Rubinstein, Helene Cederroth, Alison P Rockett-Frase, Gareth Baynam, William A. Gahl, Deborah Mascalzoni, Esther van Enckevort, Manuel Posada, National Institutes of Health (Estados Unidos), Eunice Kennedy Shriver National Institute of Child Health and Human Development (Estados Unidos), and United States of Department of Health & Human Services
- Subjects
0301 basic medicine ,Value (ethics) ,Open science ,Telemedicine ,common data elements ,Reviews ,Health Informatics ,Disease ,Ontology (information science) ,THERAPY ,rare disease patients ,MODEL ORGANISM ,03 medical and health sciences ,0302 clinical medicine ,Political science ,Human Phenotype Ontology ,open science ,PROGRAM ,UNDIAGNOSED DISEASES ,030212 general & internal medicine ,ontology ,TELEMEDICINE ,Medicinsk genetik ,FAIR data ,PLATFORM ,Patient data ,SYMPTOM SCIENCE ,3. Good health ,030104 developmental biology ,Premise ,Engineering ethics ,HUMAN PHENOTYPE ONTOLOGY ,data standards ,Medical Genetics ,DIABETIC-RETINOPATHY - 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. This work was supported by the U.S. Department of Health and Human Services National Institutes of Health (5r24od011883), National Institutes of Health (NIH) Office of the Director (OD); the Monarch Initiative (1R24OD011883) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54 HD079123). Sí
- Published
- 2020