Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes |
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| Institution: | 1. Centre for Comparative Genomics, Murdoch University, Perth, Western Australia;2. National Centre for Genome Resources, Sante Fe, New Mexico, USA;3. Department of Physiology, Biochemistry & Molecular Biology, Monash University, Victoria, Australia;4. US Department of Agriculture, Agricultural Research Service, Knipling-Bushland, US Livestock Insects Research Laboratory, Kerrville, Texas, USA;5. Western Australian Neuroscience Research Institute & Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Western Australia;6. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia;7. Office of Population Health Genomics, Public Health & Clinical Services Division, Department of Health, Western Australia;8. School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia;9. Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia;10. Genetic Services & Familial Cancer Program of Western Australia, Subiaco, Western Australia;11. Office of Rare Disease Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA;12. Community Genetics, School of Medical Sciences, Edith Cowan University, Western Australia;13. Department of Physiology & Biophysics, Weill Cornell Medical College, New York, New York, USA;14. The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, New York USA;15. The Feil Family Brain & Mind Research Institute, Weill Cornell College, New York, New York, USA;p. Public Health & Clinical Services Division, Western Australia Department of Health, Perth, Western Australia;1. School of Psychological Sciences, Monash University, Clayton, Australia;2. Monash Alfred Psychiatry Research Centre, The Alfred and Monash University, Central Clinical School, Melbourne, Australia;1. College of Public Health and Health Informatics, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), National Guard Health Affairs (NGHA), P.O. Box 22490, Riyadh 11426, Saudi Arabia;2. School of Health Information Science, University of Victoria, Victoria, BC, Canada;1. Vancouver Island Health Authority (VIHA), 1 Hospital Way, Victoria, BC, Canada V8Z 6R5;2. Department of Pharmacy, Royal Jubilee Hospital, VIHA, Victoria, BC, Canada;3. Faculty of Pharmaceutical Sciences, The University of British Columbia, Canada;4. Clinical Pharmacy Programs, VIHA, Nanaimo, British Columbia, Canada;5. Vancouver Coastal Health, Canada;6. Department of Emergency Medicine, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada;1. Association Luxembourgeoise des Hémophiles, Luxembourg, Luxembourg;2. Graduate Institute of Biomedical Materials and Tissue Engineering, College of Biomedical Engineering, Taipei Medical University, Taipei, Taiwan;1. Center for Health Statistics and Information, People׳s Republic of China;2. National Health and Family Planning Commission, People׳s Republic of China;1. Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lérida, Spain;2. Instituto de Investigación en Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain;3. Servicio de Cirugía Torácica, Hospital Clínico Universitario, Valencia, Spain;4. Servicio de Neumología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain;5. Servicio de Neumología, Hospital del Henares, Coslada, Madrid, Spain;6. Servicio de Neumología, Hospital Universitario Lucus Augusti, Lugo, Spain;7. Servicio de Neumología, Hospital Universitario Vall d’Hebron, Barcelona, Spain;8. Institut d’Investigació Biomèdica Sant Pau (IIB-San Pau), Barcelona, Spain |
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| Abstract: | Rare disease registries have now been recognized as a global priority for progress both in monitoring and documenting the natural course, and preventing and treating rare diseases. However, a disease registry is only one element of rare disease translational research. Here, we outline what we believe are ten key components in comprehensive rare disease translational research and describe critical relationships between them. These components are: (i) client–practitioner partnerships; (ii) disease registries; (iii) biobanks; (iv) genomics and other -omics platforms; (v) community-based and population-wide studies; (vi) bioinformatics and high performance computing; (vii) interactions with pharma to facilitate drug discovery; (viii) personalized treatments based on genotype-phenotype correlations; (ix) eHealth and a whole of life record; and (x) regulatory frameworks, particularly with regard to specimen and data sharing, and the return of results. Each component has its own inherent complexity, but if effectively integrated they will provide a comprehensive approach to the future management of rare diseases, and aid health care providers in delivering services to individuals affected with rare diseases. We demonstrate that navigation through the roadmap can provide relevant health stakeholders with a blueprint to understand the challenges and barriers which need to be overcome within and across the constituent components. The rare disease roadmap will assist decision-making at all health stakeholder levels and enable the seamless integration of new knowledge, standard operating procedures and the implementation of best practice. |
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| Keywords: | Rare disease Bioinformatics Translational research |
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