The case for open science: rare diseases

Yaffa R. Rubinstein; Peter N. Robinson; William A. Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M. Goodwin; Stephen C. Groft; Mats G. Hansson; Nomi L. Harris; Vojtech Huser; Deborah Mascalzoni; Julie A. Mcmurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N. Paltoo; Jonathan Pevsner; Manuel Posada; Alison P. Rockett-Frase; Marco Roos; Tamar B. Rubinstein; Domenica Taruscio; Esther Van Enckevort; Melissa A. Haendel

doi:10.1093/jamiaopen/ooaa030

The case for open science: rare diseases

Yaffa R. Rubinstein, Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca M. Goodwin, Stephen C. Groft, Mats G. Hansson, Nomi L. Harris, Vojtech Huser, Deborah Mascalzoni, Julie A. Mcmurry, Matthew Might, Christoffer Nellaker, Barend Mons, Dina N. Paltoo, Jonathan Pevsner, Manuel Posada, Alison P. Rockett-FraseMarco Roos, Tamar B. Rubinstein, Domenica Taruscio, Esther Van Enckevort, Melissa A. Haendel

Pediatrics

Research output: Contribution to journal › Review article › peer-review

29 Scopus citations

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.

Original language	English (US)
Pages (from-to)	472-486
Number of pages	15
Journal	JAMIA Open
Volume	3
Issue number	3
DOIs	https://doi.org/10.1093/jamiaopen/ooaa030
State	Published - Oct 1 2020

Keywords

FAIR data
common data elements
data standards
ontology
open science
rare disease patients

ASJC Scopus subject areas

Health Informatics

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10.1093/jamiaopen/ooaa030

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Rubinstein, Y. R., Robinson, P. N., Gahl, W. A., Avillach, P., Baynam, G., Cederroth, H., Goodwin, R. M., Groft, S. C., Hansson, M. G., Harris, N. L., Huser, V., Mascalzoni, D., Mcmurry, J. A., Might, M., Nellaker, C., Mons, B., Paltoo, D. N., Pevsner, J., Posada, M., ... Haendel, M. A. (2020). The case for open science: rare diseases. JAMIA Open, 3(3), 472-486. https://doi.org/10.1093/jamiaopen/ooaa030

Rubinstein, YR, Robinson, PN, Gahl, WA, Avillach, P, Baynam, G, Cederroth, H, Goodwin, RM, Groft, SC, Hansson, MG, Harris, NL, Huser, V, Mascalzoni, D, Mcmurry, JA, Might, M, Nellaker, C, Mons, B, Paltoo, DN, Pevsner, J, Posada, M, Rockett-Frase, AP, Roos, M, Rubinstein, TB, Taruscio, D, Van Enckevort, E & Haendel, MA 2020, 'The case for open science: rare diseases', JAMIA Open, vol. 3, no. 3, pp. 472-486. https://doi.org/10.1093/jamiaopen/ooaa030

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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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AU - Might, Matthew

AU - Nellaker, Christoffer

AU - Mons, Barend

AU - Paltoo, Dina N.

AU - Pevsner, Jonathan

AU - Posada, Manuel

AU - Rockett-Frase, Alison P.

AU - Roos, Marco

AU - Rubinstein, Tamar B.

AU - Taruscio, Domenica

AU - Van Enckevort, Esther

AU - Haendel, Melissa A.

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The case for open science: rare diseases

Abstract

Keywords

ASJC Scopus subject areas

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