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The case for open science: rare diseases.
Rubinstein, Yaffa R; Robinson, Peter N; Gahl, William A; Avillach, Paul; Baynam, Gareth; Cederroth, Helene; Goodwin, Rebecca M; Groft, Stephen C; Hansson, Mats G; Harris, Nomi L; Huser, Vojtech; Mascalzoni, Deborah; McMurry, Julie A; Might, Matthew; Nellaker, Christoffer; Mons, Barend; Paltoo, Dina N; Pevsner, Jonathan; Posada, Manuel; Rockett-Frase, Alison P; Roos, Marco; Rubinstein, Tamar B; Taruscio, Domenica; van Enckevort, Esther; Haendel, Melissa A.
Afiliação
  • Rubinstein YR; Special Volunteer in the Office of Strategic Initiatives, National Library of Medicine, Bethesda, Maryland, USA.
  • Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
  • Gahl WA; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA.
  • Avillach P; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
  • Baynam G; Western Australian Register of Developmental Anomalies and Telethon Kids Institute, Perth, Australia.
  • Cederroth H; Wilhelm Foundation, Brottby, Sweden.
  • Goodwin RM; Department of Health and Human Services, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA.
  • Groft SC; NCATS, National Institutes of Health, Bethesda, Maryland, USA.
  • Hansson MG; Center for Research Ethics and Bioethics, Uppsala Universitet, Uppsala, Sweden.
  • Harris NL; Department of Environmental Genomics & System Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA.
  • Huser V; Department of Health and Human Services, NCBI, National Institutes of Health, Bethesda, Maryland, USA.
  • Mascalzoni D; Center for Research Ethics and Bioethics, Uppsala University, Sweden and EURAC Research, Bolzano, Italy.
  • McMurry JA; Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA.
  • Might M; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Nellaker C; 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.
  • Mons B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Paltoo DN; Department of Health and Human Services, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA.
  • Pevsner J; Department of Neurology, Kennedy Krieger Institute and Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Posada M; Rare Diseases Research Institute & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
  • Rockett-Frase AP; Joshua Frase Foundation, Ponte Vedra Beach, Florida, USA.
  • Roos M; Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Rubinstein TB; Children Hospital at Montefiore/Albert Einstein College of Medicine-Pediatrics, Bronx, New York, USA.
  • Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • van Enckevort E; Department of Genetics, University Medical Center Groningen, University of Groningen, Leiden, Netherlands.
  • Haendel MA; Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA.
JAMIA Open ; 3(3): 472-486, 2020 Oct.
Article em En | MEDLINE | ID: mdl-33426479
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline Idioma: En Revista: JAMIA Open Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline Idioma: En Revista: JAMIA Open Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos