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Volumn 11, Issue 1, 2018, Pages 11-20

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

(14)  Dawkins, Hugh J S a   Draghia Akli, Ruxandra b,c   Lasko, Paul d   Lau, Lilian P L e   Jonker, Anneliene H e   Cutillo, Christine M f   Rath, Ana e   Boycott, Kym M g   Baynam, Gareth h,i   Lochmüller, Hanns j   Kaufmann, Petra f   Le Cam, Yann k   Hivert, Virginie k   Austin, Christopher P f  

e INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ORPHAN DRUG;

EID: 85040289394     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/cts.12501     Document Type: Review
Times cited : (112)

References (60)
  • 1
    • 33749248317 scopus 로고    scopus 로고
    • Rare essentials: drugs for rare diseases as essential medicines
    • Stolk, P., Willemen, M.J. & Leufkens, H.G. Rare essentials: drugs for rare diseases as essential medicines. Bull. World Health Organ. 84, 745–751 (2006).
    • (2006) Bull. World Health Organ. , vol.84 , pp. 745-751
    • Stolk, P.1    Willemen, M.J.2    Leufkens, H.G.3
  • 3
    • 78649700786 scopus 로고    scopus 로고
    • Rare diseases, orphan drugs and their regulation: questions and misconceptions
    • Tambuyzer, E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat. Rev. Drug Discov. 9, 921–929 (2010).
    • (2010) Nat. Rev. Drug Discov. , vol.9 , pp. 921-929
    • Tambuyzer, E.1
  • 4
    • 85018752274 scopus 로고    scopus 로고
    • International cooperation to enable the diagnosis of all rare genetic diseases
    • Boycott, K.M. et al. International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum. Genet. 100, 695–705 (2017).
    • (2017) Am. J. Hum. Genet. , vol.100 , pp. 695-705
    • Boycott, K.M.1
  • 5
    • 84859326107 scopus 로고    scopus 로고
    • Rare diseases and orphan drugs
    • Melnikova, I. Rare diseases and orphan drugs. Nat. Rev. Drug Discov. 11, 267–268 (2012).
    • (2012) Nat. Rev. Drug Discov. , vol.11 , pp. 267-268
    • Melnikova, I.1
  • 6
    • 85040290001 scopus 로고    scopus 로고
    • Accessed 21 July 2017
    • List of Rare Diseases by Orphanet. http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf Accessed 21 July 2017.
    • List of Rare Diseases by Orphanet
  • 7
    • 84962299826 scopus 로고    scopus 로고
    • Survey of healthcare experiences of Australian adults living with rare diseases
    • Molster, C. et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J. Rare Dis. 11, 30 (2016).
    • (2016) Orphanet J. Rare Dis. , vol.11 , pp. 30
    • Molster, C.1
  • 8
    • 85040290039 scopus 로고    scopus 로고
    • The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe
    • EURORDIS, The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. (2009) EURORDIS-Rare Diseases Europe.
    • (2009) EURORDIS-Rare Diseases Europe
  • 9
    • 85021706667 scopus 로고    scopus 로고
    • The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
    • Walker, C.E. et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet. Med. 19, 546–552 (2017).
    • (2017) Genet. Med. , vol.19 , pp. 546-552
    • Walker, C.E.1
  • 10
    • 44849143056 scopus 로고    scopus 로고
    • Why rare diseases are an important medical and social issue
    • Schieppati, A. et al. Why rare diseases are an important medical and social issue. Lancet 371, 2039–2041 (2008).
    • (2008) Lancet , vol.371 , pp. 2039-2041
    • Schieppati, A.1
  • 11
    • 70449463493 scopus 로고    scopus 로고
    • Personalizing” academic medicine: opportunities and challenges in implementing genomic profiling
    • Tweardy, D.J. & Belmont, J.W. “Personalizing” academic medicine: opportunities and challenges in implementing genomic profiling. Transl. Res. 154, 288–294 (2009).
    • (2009) Transl. Res. , vol.154 , pp. 288-294
    • Tweardy, D.J.1    Belmont, J.W.2
  • 12
    • 77954243603 scopus 로고    scopus 로고
    • Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years
    • Braun, M.M. et al. Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years. Nat. Rev. Drug Discov. 9, 519–522 (2010).
    • (2010) Nat. Rev. Drug Discov. , vol.9 , pp. 519-522
    • Braun, M.M.1
  • 13
    • 79955580019 scopus 로고    scopus 로고
    • European regulation on orphan medicinal products: 10 years of experience and future perspectives
    • Committee for Orphan Medicinal, P. et al. European regulation on orphan medicinal products: 10 years of experience and future perspectives. Nat. Rev. Drug Discov. 10, 341–349 (2011).
    • (2011) Nat. Rev. Drug Discov. , vol.10 , pp. 341-349
  • 15
    • 79953737555 scopus 로고    scopus 로고
    • Rare-disease project has global ambitions
    • Abbott, A. Rare-disease project has global ambitions. Nature 472, 17 (2011).
    • (2011) Nature , vol.472 , pp. 17
    • Abbott, A.1
  • 16
    • 85040291290 scopus 로고    scopus 로고
    • Accessed 29 May 2017
    • IRDiRC Members. Available from: http://www.irdirc.org/about-us/members/ Accessed: 29 May 2017.
  • 17
    • 85040288420 scopus 로고    scopus 로고
    • Accessed 29 May 2017
    • Orphanet. Available from: http://www.orpha.net/ Accessed: 29 May 2017.
  • 18
    • 84886294284 scopus 로고    scopus 로고
    • Developmental disease and cancer: biological and clinical overlaps
    • Bellacosa, A. Developmental disease and cancer: biological and clinical overlaps. Am. J. Med. Genet. A. 161A, 2788–2796 (2013).
    • (2013) Am. J. Med. Genet. A , vol.161A , pp. 2788-2796
    • Bellacosa, A.1
  • 19
    • 84931566428 scopus 로고    scopus 로고
    • A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macroencephaly and small thoraces
    • Baynam, G. et al. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macroencephaly and small thoraces. Am. J. Med. Genet. A 167, 1659–1667 (2015).
    • (2015) Am. J. Med. Genet. A , vol.167 , pp. 1659-1667
    • Baynam, G.1
  • 20
    • 85040288351 scopus 로고    scopus 로고
    • Future of rare diseases research 2017–2027: an IRDiRC perspective
    • Austin, C.P. et al. Future of rare diseases research 2017–2027: an IRDiRC perspective. Clin. Trans. Sci. 11, 21–27 (2017).
    • (2017) Clin. Trans. Sci. , vol.11 , pp. 21-27
    • Austin, C.P.1
  • 21
    • 84958521776 scopus 로고    scopus 로고
    • Transforming translation: Impact of Clinical and Translational Science
    • Wagner J.A. & Kroetz D.L. Transforming translation: Impact of Clinical and Translational Science. Clin. Transl. Sci. 9:3–5 (2016). https://doi.org.10.1111/cts.12380
    • (2016) Clin. Transl. Sci , vol.9 , pp. 3-5
    • Wagner, J.A.1    Kroetz, D.L.2
  • 22
    • 85040290113 scopus 로고    scopus 로고
    • Accessed 21 July 2017
    • List of research projects funded by the European Commission. Available from: http://www.irdirc.org/member-funded-research/research-projects/european-commission-european-union/ Accessed 21 July 2017.
  • 23
    • 85025835471 scopus 로고    scopus 로고
    • The importance of international collaboration for rare diseases research-a European perspective
    • [Epub ahead of print]
    • Julkowska, D. et al. The importance of international collaboration for rare diseases research-a European perspective. Gene Ther. (2017) [Epub ahead of print].
    • (2017) Gene Ther.
    • Julkowska, D.1
  • 24
    • 85040292039 scopus 로고    scopus 로고
    • Accessed 21 July 2017
    • List of research projects funded by the E-Rare Consortium. Available from: http://www.irdirc.org/member-funded-research/research-projects/e-rare-european-union/ Accessed 21 July 2017.
  • 25
    • 84976892784 scopus 로고    scopus 로고
    • The rare and undiagnosed diseases diagnostic service — application of massively parallel sequencing in a state-wide clinical service
    • Baynam, G. et al. The rare and undiagnosed diseases diagnostic service — application of massively parallel sequencing in a state-wide clinical service. Orphanet J. Rare Dis. 11, 77 (2016).
    • (2016) Orphanet J. Rare Dis. , vol.11 , pp. 77
    • Baynam, G.1
  • 26
    • 84973352529 scopus 로고    scopus 로고
    • Worldwide collaboration for orphan drug designation
    • Mariz, S. et al. Worldwide collaboration for orphan drug designation. Nat. Rev. Drug Discov. 15, 440–441 (2016).
    • (2016) Nat. Rev. Drug Discov. , vol.15 , pp. 440-441
    • Mariz, S.1
  • 27
    • 84925367154 scopus 로고    scopus 로고
    • Available from,) Accessed 29 May 2017
    • IRDiRC Policies and Guidelines. Available from: http://www.irdirc.org/reports-guidelines/policies-guidelines/ (2013) Accessed: 29 May 2017.
    • (2013) IRDiRC Policies and Guidelines
  • 29
    • 85040289892 scopus 로고    scopus 로고
    • Available from: Accessed 30 June 2017
    • Orphanet — Diagnostic Test. Available from: http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search.php?lng=EN Accessed 30 June 2017.
    • Orphanet — Diagnostic Test
  • 31
    • 84859151980 scopus 로고    scopus 로고
    • The need for genetic studies of Indegenous Australians
    • Baynam, G. The need for genetic studies of Indegenous Australians. Med. J. Aust. 196, 313 (2012).
    • (2012) Med. J. Aust. , vol.196 , pp. 313
    • Baynam, G.1
  • 32
    • 85018949625 scopus 로고    scopus 로고
    • Prevalence of microencephaly in an Australian population-based birth defects register, 1980–2015
    • Hansen, M. et al. Prevalence of microencephaly in an Australian population-based birth defects register, 1980–2015. Med. J. Aust. 206, 351–356 (2017).
    • (2017) Med. J. Aust. , vol.206 , pp. 351-356
    • Hansen, M.1
  • 34
    • 84941873668 scopus 로고    scopus 로고
    • The Matchmaker Exchange: a platform for rare disease gene discovery
    • Philippakis, A.A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum. Mutat. 36, 915–921 (2015).
    • (2015) Hum. Mutat. , vol.36 , pp. 915-921
    • Philippakis, A.A.1
  • 35
    • 84975129608 scopus 로고    scopus 로고
    • GENOMICS. A federated ecosystem for sharing genomic, clinical data
    • Global Alliance for, G. and Health, GENOMICS. A federated ecosystem for sharing genomic, clinical data. Science 352, 1278–1280 (2016).
    • (2016) Science , vol.352 , pp. 1278-1280
  • 36
    • 85040291748 scopus 로고    scopus 로고
    • Available from: Accessed: 29 May 2017
    • Automatable Discovery and Access Matrix. Available from: https://genomicsandhealth.org/work-products-demonstration-projects/automatable-discovery-and-access-matrix Accessed: 29 May 2017.
    • Automatable Discovery and Access Matrix
  • 37
    • 85040290663 scopus 로고    scopus 로고
    • Available from: Accessed: 29 May 2017
    • Privacy-Preserving Record Linkage. Available from: http://www.irdirc.org/activities/current-activities/privacy-preserving-record-linkage/ Accessed: 29 May 2017.
    • Privacy-Preserving Record Linkage
  • 41
    • 85040286837 scopus 로고    scopus 로고
    • Available from Accessed: 29 May 2017
    • Data Mining and Repurposing. Available from: http://www.irdirc.org/activities/current-activities/data-mining-repurposing/ Accessed: 29 May 2017.
  • 42
    • 84992365905 scopus 로고    scopus 로고
    • ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
    • Lochmuller, H. et al. ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur. J. Hum. Genet. 25, 162–165 (2017).
    • (2017) Eur. J. Hum. Genet. , vol.25 , pp. 162-165
    • Lochmuller, H.1
  • 43
    • 85040291243 scopus 로고    scopus 로고
    • Available from: Accessed: 29 May 2017
    • Global Genomic Medicine Collaborative (G2MC). Available from: http://www.nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/Global_Genomic_Medicine_Collaborative.aspx Accessed: 29 May 2017.
    • Global Genomic Medicine Collaborative (G2MC)
  • 44
    • 84905859770 scopus 로고    scopus 로고
    • RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
    • Thompson, R. et al. RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J. Gen. Intern. Med. 29 (Suppl 3), S780-7 (2014).
    • (2014) J. Gen. Intern. Med. , vol.29 , pp. S780-S787
    • Thompson, R.1
  • 45
    • 70349599869 scopus 로고    scopus 로고
    • Collaborating to bring new therapies to the patient–the TREAT-NMD model
    • Bushby, K. et al. Collaborating to bring new therapies to the patient–the TREAT-NMD model. Acta Myol. 28, 12–15 (2009).
    • (2009) Acta Myol. , vol.28 , pp. 12-15
    • Bushby, K.1
  • 46
    • 84928747941 scopus 로고    scopus 로고
    • RARE-Bestpractices: a platform for sharing best practice for the management of rare diseases
    • Taruscio, D. et al. RARE-Bestpractices: a platform for sharing best practice for the management of rare diseases. Rare Dis. Orphan Drugs 1, 5–8 (2014).
    • (2014) Rare Dis. Orphan Drugs , vol.1 , pp. 5-8
    • Taruscio, D.1
  • 47
    • 85040289292 scopus 로고    scopus 로고
    • Available from: 29 May 2017
    • RD-Action. Available from: http://www.rd-action.eu Accessed: 29 May 2017.
    • RD-Action
  • 48
    • 84912129276 scopus 로고    scopus 로고
    • Available from: Accessed: 29 May 2017
    • European Reference Networks. Available from: http://ec.europa.eu/health/ern/ Accessed: 29 May 2017.
    • European Reference Networks
  • 49
    • 84905923468 scopus 로고    scopus 로고
    • The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research
    • Krischer, J.P. et al. The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research. J. Gen. Intern. Med. 29 (Suppl 3), S739–744 (2014).
    • (2014) J. Gen. Intern. Med. , vol.29 , pp. S739-744
    • Krischer, J.P.1
  • 50
    • 84948823359 scopus 로고    scopus 로고
    • Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
    • Taruscio, D. et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Mol. Genet. Metab. 116, 223–225 (2015).
    • (2015) Mol. Genet. Metab. , vol.116 , pp. 223-225
    • Taruscio, D.1
  • 51
    • 84864358886 scopus 로고    scopus 로고
    • Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
    • Rath, A. et al. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum. Mutat. 33, 803–808 (2012).
    • (2012) Hum. Mutat. , vol.33 , pp. 803-808
    • Rath, A.1
  • 52
    • 84926462524 scopus 로고    scopus 로고
    • Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding
    • Ayme, S., Bellet, B. & Rath, A. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J. Rare Dis. 10, 35 (2015).
    • (2015) Orphanet J. Rare Dis. , vol.10 , pp. 35
    • Ayme, S.1    Bellet, B.2    Rath, A.3
  • 53
    • 84929288545 scopus 로고    scopus 로고
    • International Charter of principles for sharing bio-specimens and data
    • Mascalzoni, D. et al. International Charter of principles for sharing bio-specimens and data. Eur. J. Hum. Genet. 23, 721–728 (2015).
    • (2015) Eur. J. Hum. Genet. , vol.23 , pp. 721-728
    • Mascalzoni, D.1
  • 54
    • 84962759514 scopus 로고    scopus 로고
    • ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
    • McCormack, P. et al. ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research. Eur. J. Hum. Genet. 24, 1403–1408 (2016).
    • (2016) Eur. J. Hum. Genet. , vol.24 , pp. 1403-1408
    • McCormack, P.1
  • 55
    • 84902173195 scopus 로고    scopus 로고
    • FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
    • Beaulieu, C.L. et al. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am. J. Hum. Genet. 94, 809–817 (2014).
    • (2014) Am. J. Hum. Genet. , vol.94 , pp. 809-817
    • Beaulieu, C.L.1
  • 57
    • 85040286183 scopus 로고    scopus 로고
    • Available from: 29 May 2017
    • Rare Diseases International. Available from: http://www.rarediseasesinternational.org/ Accessed: 29 May 2017.
    • Rare Diseases International
  • 58
    • 85040290864 scopus 로고    scopus 로고
    • Available from: Accessed: 29 May 2017
    • NGO Committee for Rare Diseases. Available from: http://www.ngocommitteerarediseases.org/ Accessed: 29 May 2017.
    • NGO Committee for Rare Diseases
  • 60
    • 85040290949 scopus 로고    scopus 로고
    • Orphanet — Orphan Drugs., 30 June 2017
    • Orphanet — Orphan Drugs. Available from: http://www.orpha.net/consor/cgi-bin/Drugs_Search.php?lng=EN Accessed 30 June 2017.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.