Search: onr:"swepub:oai:DiVA.org:uu-433958" >
The case for open s...
The case for open science : rare diseases
-
Rubinstein, Yaffa R. (author)
-
Robinson, Peter N. (author)
-
Gahl, William A. (author)
-
show more...
-
Avillach, Paul (author)
-
Baynam, Gareth (author)
-
Cederroth, Helene (author)
-
Goodwin, Rebecca M. (author)
-
Groft, Stephen C. (author)
-
- Hansson, Mats G., 1952- (author)
- Uppsala universitet,Centrum för forsknings- och bioetik
-
Harris, Nomi L. (author)
-
Huser, Vojtech (author)
-
- Mascalzoni, Deborah, 1973- (author)
- Uppsala universitet,Centrum för forsknings- och bioetik,EURAC Research, Bolzano, Italy
-
McMurry, Julie A. (author)
-
Might, Matthew (author)
-
Nellaker, Christoffer (author)
-
Mons, Barend (author)
-
Paltoo, Dina N. (author)
-
Pevsner, Jonathan (author)
-
Posada, 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)
-
show less...
-
(creator_code:org_t)
- 2020-09-11
- 2020
- English.
-
In: JAMIA Open. - : Oxford University Press (OUP). - 2574-2531. ; 3:3, s. 472-486
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://uu.diva-port... (primary) (Raw object)
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- FAIR data
- common data elements
- data standards
- ontology
- open science
- rare disease patients
Publication and Content Type
- ref (subject category)
- for (subject category)
Find in a library
-
JAMIA Open
(Search for host publication in LIBRIS)
To the university's database
- By the author/editor
-
Rubinstein, Yaff ...
-
Robinson, Peter ...
-
Gahl, William A.
-
Avillach, Paul
-
Baynam, Gareth
-
Cederroth, Helen ...
-
show more...
-
Goodwin, Rebecca ...
-
Groft, Stephen C ...
-
Hansson, Mats G. ...
-
Harris, Nomi L.
-
Huser, Vojtech
-
Mascalzoni, Debo ...
-
McMurry, Julie A ...
-
Might, Matthew
-
Nellaker, Christ ...
-
Mons, Barend
-
Paltoo, Dina N.
-
Pevsner, Jonatha ...
-
Posada, Manuel
-
Rockett-Frase, A ...
-
Roos, Marco
-
Rubinstein, Tama ...
-
Taruscio, Domeni ...
-
van Enckevort, E ...
-
Haendel, Melissa ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
JAMIA Open
- By the university
-
Uppsala University