A global approach to rare diseases research and orphan products development: The international rare diseases research consortium (IRDiRC)

Advances in Experimental Medicine and Biology

Volumn 1031, Issue , 2017, Pages 349-369

  Cutillo, Christine M ^a   Austin, Christopher P ^a   Groft, Stephen C ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Collaborative model; Consortium; Data sharing; Data standards; Diagnostics; International; Policy; Therapies

Indexed keywords

BIOLOGICAL MARKER;

ACHIEVEMENT; BIOBANK; DATA MINING; FUNDING; HEALTH CARE MANAGEMENT; HEALTH CARE POLICY; HISTORY; HUMAN; INTERDISCIPLINARY COMMUNICATION; INTERNATIONAL RARE DISEASES RESEARCH CONSORTIUM; INTERPERSONAL COMMUNICATION; MEDICAL RESEARCH; NATIONAL HEALTH ORGANIZATION; ONTOLOGY; OUTCOME ASSESSMENT; PATENT; PATIENT ADVOCACY; PATIENT CARE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PRODUCT DEVELOPMENT; PUBLICATION; RARE DISEASE; REGISTER; SCIENTIST; UNITED STATES; WORKSHOP; DRUG MANUFACTURE; GLOBAL HEALTH; INTERNATIONAL COOPERATION; METHODOLOGY; PROCEDURES; PROGRAM DEVELOPMENT;

BIOMEDICAL RESEARCH; GLOBAL HEALTH; HUMANS; INTERNATIONAL COOPERATION; ORPHAN DRUG PRODUCTION; PROGRAM DEVELOPMENT; RARE DISEASES; RESEARCH DESIGN;

EID: 85037669125     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-3-319-67144-4_20     Document Type: Chapter

References (17)

1. Austin CP, Dawkins HJS (2017) Next decade’s goals for rare diseases. Nature 548: 158. doi: 10.1038/548158c
2. Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry S, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS et al (2017) Future of rare diseases research 2017-2027: an IRDiRC perspective. Clin Transl Sci. Epub. doi: 10.1111/cts.12500
3. Boycott K, Hamosh A, Rehm H (2015) Special issue: the matchmaker exchange. Hum Mutat 36(10): i-iii,915-1019
4. Brooks PJ, Tagle DA, Groft S (2014) Expanding rare disease drug trials based on shared molecular etiology. Nat Biotech 32: 515-518
5. Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Austin CP et al (2017) Progress in rare diseases research 2010-2016: an IRDiRC perspective. Clin Transl Sci. Epub. doi: 10.1111/ cts.12501
6. de Vrueh R, Baekelandt E, de Haan J (2013) Bakcground paper 6.19 rare diseases: update on 2004 background paper written by S. van Weely and H.G.M. Leufkens. 12 March. Available from: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf
7. International Rare Diseases Research Consortium (IRDiRC) (2013) Policies & guidelines: long version. April. Available from: http://www.irdirc.org/wp-content/uploads/2013/06/ IRDiRC_Policies_Longversion_24May2013.pdf
8. International Rare Diseases Research Consortium (IRDiRC) (2011) Minutes of the 2nd IRDiRC Workshop. 5-8 April. Available from: http://www.irdirc.org/wp-content/uploads/2013/10/ Report_Workshop_Bethesda_Apr11.pdf
9. International Rare Diseases Research Consortium (IRDiRC) (2010) Minutes of the 1st IRDiRC Workshop. 27-28 October. Available from: http://www.irdirc.org/wp-content/uploads/2013/10/ Report_1st-Workshop_Reykjavik_Oct10.pdf
10. International Rare Diseases Research Consortium (IRDiRC) (2016) Patient-centered outcome measures initiatives in the field of rare diseases. February. Available from: http://www.irdirc. org/wp-content/uploads/2016/03/PCOM_Post-Workshop_Report_Final.pdf
11. International Rare Diseases Research Consortium (IRDiRC) (2013) Policies & guidelines: long version. April. Available from: http://www.irdirc.org/wp-content/uploads/2013/06/ IRDiRC_Policies_Longversion_24May2013.pdf
12. International Rare Diseases Research Consortium (IRDiRC) (2016) Small Population Clinical Trials Task Force Workshop Report and Recommendations. 2016 July. Available from: http:// www.irdirc.org/wp-content/uploads/2016/11/SPCT_Report.pdf
13. International Rare Diseases Research Consortium (IRDiRC) (2016) International consortium of human phenotype terminologies terms and mapping. February. Available from: http://www. irdirc.org/wp-content/uploads/2016/02/ICHPT-map.xlsx
14. Lochmüller H, Le Cam Y, Jonker AH, Lau LPL, Baynam G, Kaufmann P, Lasko P, Dawkins HJS, Austin CP, Boycott KM et al (2016) IRDiRC recognized resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur J Hum Gen 25(2): 162-165. https://doi.org/10.1038/ejhg.2016.137
15. Lochmüller H, i Farnell JT, Le Cam Y, Jonker AH, Lau LPL, Baynam G, Kaufmann P, Dawkins HJS, Lasko P, Austin CP, Boycott KM et al (2017) The International Rare Diseases Research Consortium: policies and guidelines to maximize impact. Eur J Hum Gen, in press.
16. Online Mendelian Inheritance in Man. Available from: http://omim.org/statistics/entry Accessed 13 April 2017
17. Pharmaceutical Research and Manufacturers of America (PhRMA) (2016) Biopharmaceutical Research Industry Profile. 2016 April. Washington, DC. Available from: http://phrma.org/ sites/default/files/pdf/biopharmaceutical-industry-profile.pdf