The case for open science: rare diseases

Author:

Rubinstein Yaffa R1,Robinson Peter N2,Gahl William A3,Avillach Paul4,Baynam Gareth5,Cederroth Helene6,Goodwin Rebecca M7,Groft Stephen C8,Hansson Mats G9,Harris Nomi L10,Huser Vojtech11,Mascalzoni Deborah12,McMurry Julie A13,Might Matthew14,Nellaker Christoffer15,Mons Barend16,Paltoo Dina N7,Pevsner Jonathan17,Posada Manuel18,Rockett-Frase Alison P19,Roos Marco20,Rubinstein Tamar B21,Taruscio Domenica22,van Enckevort Esther23ORCID,Haendel Melissa A13

Affiliation:

1. Special Volunteer in the Office of Strategic Initiatives, National Library of Medicine, Bethesda, Maryland, USA

2. The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA

3. Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA

4. Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA

5. Western Australian Register of Developmental Anomalies and Telethon Kids Institute, Perth, Australia

6. Wilhelm Foundation, Brottby, Sweden

7. Department of Health and Human Services, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA

8. NCATS, National Institutes of Health, Bethesda, Maryland, USA

9. Center for Research Ethics and Bioethics, Uppsala Universitet, Uppsala, Sweden

10. Department of Environmental Genomics & System Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA

11. Department of Health and Human Services, NCBI, National Institutes of Health, Bethesda, Maryland, USA

12. Center for Research Ethics and Bioethics, Uppsala University, Sweden and EURAC Research, Bolzano, Italy

13. Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA

14. Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, Alabama, USA

15. 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

16. Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands

17. Department of Neurology, Kennedy Krieger Institute and Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA

18. Rare Diseases Research Institute & CIBERER, Instituto de Salud Carlos III, Madrid, Spain

19. Joshua Frase Foundation, Ponte Vedra Beach, Florida, USA

20. Human Genetics, Leiden University Medical Center, Leiden, Netherlands

21. Children Hospital at Montefiore/Albert Einstein College of Medicine—Pediatrics, Bronx, New York, USA

22. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

23. Department of Genetics, University Medical Center Groningen, University of Groningen, Leiden, Netherlands

Abstract

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.

Funder

U.S. Department of Health and Human Services National Institutes of Health

National Institutes of Health (NIH) Office of the Director

Monarch Initiative

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Oxford University Press (OUP)

Subject

Health Informatics

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