The case for open science: rare diseases
JAMIA Open, vol. 3, pp. 472–486
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.
Authors 25
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Yaffa Rubinstein corresponding
United States National Library of Medicine
Affiliation as printed
Special Volunteer in the Office of Strategic Initiatives, National Library of Medicine, Bethesda, Maryland, USA
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The Jackson Laboratory for Genomic Medicine
Affiliation as printed
The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA
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National Institutes of Health · National Human Genome Research Institute
Affiliation as printed
Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA
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Affiliation as printed
Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA
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The Kids Research Institute Australia
Affiliation as printed
Western Australian Register of Developmental Anomalies and Telethon Kids Institute, Perth, Australia
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Affiliation as printed
Wilhelm Foundation, Brottby, Sweden
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National Institutes of Health · United States National Library of Medicine
Affiliation as printed
Department of Health and Human Services, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA
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National Institutes of Health · National Center for Advancing Translational Sciences
Affiliation as printed
NCATS, National Institutes of Health, Bethesda, Maryland, USA
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Affiliation as printed
Center for Research Ethics and Bioethics, Uppsala Universitet, Uppsala, Sweden
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Lawrence Berkeley National Laboratory
Affiliation as printed
Department of Environmental Genomics & System Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA
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Affiliation as printed
Department of Health and Human Services, NCBI, National Institutes of Health, Bethesda, Maryland, USA
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Uppsala University · Eurac Research
Affiliation as printed
Center for Research Ethics and Bioethics, Uppsala University, Sweden and EURAC Research, Bolzano, Italy
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Affiliation as printed
Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA
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University of Alabama at Birmingham
Affiliation as printed
Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, Alabama, USA
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Affiliation as printed
Nuffield Department of Women's and Reproductive Health, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
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Leiden University Medical Center
Affiliation as printed
Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
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National Institutes of Health · United States National Library of Medicine
Affiliation as printed
Department of Health and Human Services, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA
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Kennedy Krieger Institute · Johns Hopkins University · Johns Hopkins Medicine
Affiliation as printed
Department of Neurology, Kennedy Krieger Institute and Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
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Instituto de Salud Carlos III · Centre for Biomedical Network Research on Rare Diseases
Affiliation as printed
Rare Diseases Research Institute & CIBERER, Instituto de Salud Carlos III, Madrid, Spain
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Affiliation as printed
Joshua Frase Foundation, Ponte Vedra Beach, Florida, USA
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Leiden University Medical Center
Affiliation as printed
Human Genetics, Leiden University Medical Center, Leiden, Netherlands
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Tamar B. Rubinstein corresponding
Albert Einstein College of Medicine · Children's Hospital at Montefiore
Affiliation as printed
Children Hospital at Montefiore/Albert Einstein College of Medicine—Pediatrics, Bronx, New York, USA
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Affiliation as printed
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Genetics, University Medical Center Groningen, University of Groningen, Leiden, Netherlands
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Affiliation as printed
Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA
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