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Volumn 7, Issue 1, 2012, Pages

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Author keywords

National plan; Rare diseases; Stakeholder consultation

Indexed keywords

ARTICLE; AUSTRALIA; COOPERATION; EMPOWERMENT; FUNDING; HEALTH CARE PLANNING; HEALTH CARE POLICY; HUMAN; MEDICAL RESEARCH; OUTCOME ASSESSMENT; PATIENT CARE; PATIENT EDUCATION; POLITICS; RARE DISEASE; SOCIAL NETWORK; SOCIAL WORK; WORKSHOP;

EID: 84864819821     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-50     Document Type: Article
Times cited : (19)

References (47)
  • 2
    • 44849116195 scopus 로고    scopus 로고
    • Empowerment of patients: lessons from the rare diseases community
    • DOI 10.1016/S0140-6736(08)60875-2, PII S0140673608608752
    • Empowerment of patients: lessons from the rare diseases community. Aymé S, Kole A, Groft S, Lancet 2008 9629 2048 2051 (Pubitemid 351802281)
    • (2008) The Lancet , vol.371 , Issue.9629 , pp. 2048-2051
    • Ayme, S.1    Kole, A.2    Groft, S.3
  • 3
    • 37149015360 scopus 로고    scopus 로고
    • Networking for rare diseases: Orphanate research initiatives and reference centres
    • 10.1007/s00103-007-0381-9 18026888
    • Networking for rare diseases: Orphanate research initiatives and reference centres. Aymé S, Schmidtke J, Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2007 50 1477 1483 10.1007/s00103-007- 0381-9 18026888
    • (2007) Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz , vol.50 , pp. 1477-1483
    • Aymé, S.1    Schmidtke, J.2
  • 4
    • 0142156659 scopus 로고    scopus 로고
    • Tackling the problem of rare diseases in public health: The Italian approach
    • DOI 10.1159/000073009
    • Tackling the problem of rare diseases in public health: the Italian approach. Taruscio D, Ido M, Daina E, Schieppati A, Community Genet 2003 6 123 124 10.1159/000073009 14560074 (Pubitemid 37323451)
    • (2003) Community Genetics , vol.6 , Issue.2 , pp. 123-124
    • Taruscio, D.1    Ido, M.S.2    Daina, E.3    Schieppati, A.4
  • 5
    • 38449112711 scopus 로고    scopus 로고
    • Tackling rare diseases at the European level: Why do we need a harmonized framework?
    • Tackling rare diseases at the European level: why do we need a harmonized framework? Taruscio D, Trama A, Stefanov R, Folia Med 2007 49 59 67
    • (2007) Folia Med , vol.49 , pp. 59-67
    • Taruscio, D.1    Trama, A.2    Stefanov, R.3
  • 6
    • 79952050558 scopus 로고    scopus 로고
    • National plans and strategies on rare diseases in Europe
    • 10.1007/978-90-481-9485-8-26 20824461
    • National plans and strategies on rare diseases in Europe. Taruscio D, Vittozzi L, Stefanov R, Adv Exp Med Biol 2010 686 475 491 10.1007/978-90-481- 9485-8-26 20824461
    • (2010) Adv Exp Med Biol , vol.686 , pp. 475-491
    • Taruscio, D.1    Vittozzi, L.2    Stefanov, R.3
  • 7
    • 79952060054 scopus 로고    scopus 로고
    • Rare diseases - Avoiding misperceptions and establishing realities: The need for reliable epidemiological data
    • Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data. Groft S, Posada De La Paz M, Adv Exp Med Biol 2010 2010 3 14
    • (2010) Adv Exp Med Biol , vol.2010 , pp. 3-14
    • Groft, S.1    Posada De La Paz, M.2
  • 8
    • 79952065108 scopus 로고    scopus 로고
    • Creating a European Union framework for actions in the field of rare diseases
    • 10.1007/978-90-481-9485-8-25 20824460
    • Creating a European Union framework for actions in the field of rare diseases. Moliner AM, Adv Exp Med Biol 2010 686 457 473 10.1007/978-90-481-9485- 8-25 20824460
    • (2010) Adv Exp Med Biol , vol.686 , pp. 457-473
    • Moliner, A.M.1
  • 9
    • 80052787766 scopus 로고    scopus 로고
    • Awakening Australia to rare diseases: Symposium report and preliminary outcomes
    • 10.1186/1750-1172-6-57 21849083
    • Awakening Australia to rare diseases: symposium report and preliminary outcomes. Dawkins H, Molster C, Youngs L, O'Leary P, Orphanet J Rare Dis 2011 6 57 10.1186/1750-1172-6-57 21849083
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 57
    • Dawkins, H.1    Molster, C.2    Youngs, L.3    O'Leary, P.4
  • 11
    • 33746765000 scopus 로고    scopus 로고
    • The common problem of rare disease in general practice
    • The common problem of rare disease in general practice. Knight A, Senior T, Medical Journal of Australia 2006 185 82 83 16842062 (Pubitemid 44164816)
    • (2006) Medical Journal of Australia , vol.185 , Issue.2 , pp. 82-83
    • Knight, A.W.1    Senior, T.P.2
  • 12
    • 34547464168 scopus 로고    scopus 로고
    • International conferences on rare diseases: Initiatives in commitment, patient care and connections
    • International conferences on rare diseases: initiatives in commitment, patient care and connections. Knight AW, Taruscio D, Medical Journal of Australia 2007 187 74 76 17635086 (Pubitemid 47162350)
    • (2007) Medical Journal of Australia , vol.187 , Issue.2 , pp. 74-76
    • Knight, A.W.1    Taruscio, D.2
  • 13
    • 84876492616 scopus 로고    scopus 로고
    • Rare Diseases Working Group convened by the Australian Pediatric Surveillance Unit. Improving outcomes for rare diseases in Australia a national plan for rare diseases (not for public distribution)
    • Rare Diseases Working Group convened by the Australian Pediatric Surveillance Unit. Improving outcomes for rare diseases in Australia, a national plan for rare diseases (not for public distribution)
  • 18
    • 84877652713 scopus 로고    scopus 로고
    • Blueprint for a deliberative public forum on biobanking policy: Were theoretical principles achievable in practice?
    • 10.1111/j.1369-7625.2011.00701.x
    • Blueprint for a deliberative public forum on biobanking policy: were theoretical principles achievable in practice? Molster C, Maxwell S, Youngs L, et al. Health Expect 2011 10.1111/j.1369-7625.2011.00701.x
    • (2011) Health Expect
    • Molster, C.1    Maxwell, S.2    Youngs, L.3
  • 19
    • 79955476462 scopus 로고    scopus 로고
    • Care for patients with ultra-rare disorders
    • 10.1016/j.ejmg.2010.12.001 21147279
    • Care for patients with ultra-rare disorders. Hennekam R, Eur J Med Genet 2011 54 220 224 10.1016/j.ejmg.2010.12.001 21147279
    • (2011) Eur J Med Genet , vol.54 , pp. 220-224
    • Hennekam, R.1
  • 20
    • 77953083696 scopus 로고    scopus 로고
    • The National Organization for Rare Disorders (NORD): Providing advocacy for people with rare disorders
    • 10.1177/1942602X09352796 20440954
    • The National Organization for Rare Disorders (NORD): providing advocacy for people with rare disorders. Putkowski S, NASN Sch Nurse 2010 25 38 41 10.1177/1942602X09352796 20440954
    • (2010) NASN Sch Nurse , vol.25 , pp. 38-41
    • Putkowski, S.1
  • 21
    • 79953681954 scopus 로고    scopus 로고
    • The impact of parent advocacy groups, the Internet and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example
    • 21463291
    • The impact of parent advocacy groups, the Internet and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example. Black A, Baker M, Epilepsia 2011 52 102 104 21463291
    • (2011) Epilepsia , vol.52 , pp. 102-104
    • Black, A.1    Baker, M.2
  • 22
    • 33846783182 scopus 로고    scopus 로고
    • The use of the internet in data assimilation in rare diseases
    • DOI 10.1007/s10620-006-9213-2
    • The use of the internet in data assimilation in rare diseases. Bedgood R, Sadursk R, Schade R, Digestive Diseases and Science 2007 52 307 312 10.1007/s10620-006-9213-2 (Pubitemid 46202797)
    • (2007) Digestive Diseases and Sciences , vol.52 , Issue.2 , pp. 307-312
    • Bedgood, R.1    Sadurski, R.2    Schade, R.R.3
  • 23
    • 34748880066 scopus 로고    scopus 로고
    • Access to information supporting availability of medicines for patients suffering from rare diseases looking for possible treatments: The EuOrphan Service
    • Access to information supporting availability of medicines for patients suffering from rare diseases looking for possible treatments: the EuOrphan Service. Stakisaitis D, Sopkiene I, Juskevicius J, Valuckas K, Baiardi P, Medicina (Kaunas) 2007 43 441 446
    • (2007) Medicina (Kaunas) , vol.43 , pp. 441-446
    • Stakisaitis, D.1    Sopkiene, I.2    Juskevicius, J.3    Valuckas, K.4    Baiardi, P.5
  • 24
    • 79952065110 scopus 로고    scopus 로고
    • Patient registries: Utility, validity and inference
    • 10.1007/978-90-481-9485-8-6 20824441
    • Patient registries: utility, validity and inference. Richesson R, Vehik K, Adv Exp Med Biol 2010 686 87 104 10.1007/978-90-481-9485-8-6 20824441
    • (2010) Adv Exp Med Biol , vol.686 , pp. 87-104
    • Richesson, R.1    Vehik, K.2
  • 25
    • 57149098451 scopus 로고    scopus 로고
    • Rare childhood diseases: How should we respond?
    • 10.1136/adc.2007.134940 18684747
    • Rare childhood diseases: how should we respond? Zurynski Y, Leonard H, Elliott E, Arch Dis Child 2008 93 1071 1074 10.1136/adc.2007.134940 18684747
    • (2008) Arch Dis Child , vol.93 , pp. 1071-1074
    • Zurynski, Y.1    Leonard, H.2    Elliott, E.3
  • 26
    • 44849143056 scopus 로고    scopus 로고
    • Why rare diseases are an important medical and social issue
    • DOI 10.1016/S0140-6736(08)60872-7, PII S0140673608608727
    • Why rare diseases are an important medical and social issue. Schiepatti A, Henter J, Darina E, Aperia A, Lancet 2008 371 2039 10.1016/S0140-6736(08) 60872-7 18555915 (Pubitemid 351799861)
    • (2008) The Lancet , vol.371 , Issue.9629 , pp. 2039-2041
    • Schieppati, A.1    Henter, J.-I.2    Daina, E.3    Aperia, A.4
  • 28
    • 57649109461 scopus 로고    scopus 로고
    • Clinical research for rare disease: Opportunities, challenges and solutions
    • 10.1016/j.ymgme.2008.10.003 19013090
    • Clinical research for rare disease: opportunities, challenges and solutions. Griggs R, Batshaw M, Dunkle M, et al. Mol Genet Metab 2009 96 20 26 10.1016/j.ymgme.2008.10.003 19013090
    • (2009) Mol Genet Metab , vol.96 , pp. 20-26
    • Griggs, R.1    Batshaw, M.2    Dunkle, M.3
  • 30
    • 84876502873 scopus 로고    scopus 로고
    • Overview of Rare Disease Activities in Europe & Key Developments in 2010
    • European Union Committee of Experts on Rare Diseases (EUCERD) Aymé S, Rodwell C
    • Overview of Rare Disease Activities in Europe & Key Developments in 2010. European Union Committee of Experts on Rare Diseases (EUCERD), Report on the State of the Art of Rare Disease Activities in Europe, Aymé S, Rodwell C, 2011
    • (2011) Report on the State of the Art of Rare Disease Activities in Europe
  • 32
    • 79960457564 scopus 로고    scopus 로고
    • International rare disease research consortium commits to agressive goals
    • International rare disease research consortium commits to agressive goals. Baxter K, Terry S, Genetic Testing and Molecular Markers 2011 15 7 8
    • (2011) Genetic Testing and Molecular Markers , vol.15 , pp. 7-8
    • Baxter, K.1    Terry, S.2
  • 33
    • 79952050684 scopus 로고    scopus 로고
    • Rare diseases social epidemiology: Analysis of inequalities
    • 10.1007/978-90-481-9485-8-14 20824449
    • Rare diseases social epidemiology: analysis of inequalities. Kole A, Faurisson F, Adv Exp Med Biol 2010 686 223 250 10.1007/978-90-481-9485-8-14 20824449
    • (2010) Adv Exp Med Biol , vol.686 , pp. 223-250
    • Kole, A.1    Faurisson, F.2
  • 34
    • 77449112546 scopus 로고    scopus 로고
    • Huntington disease: Families' experiences of healthcare services
    • 10.1111/j.1365-2648.2009.05217.x 20423385
    • Huntington disease: families' experiences of healthcare services. Skirton H, Williams J, Jackson Barnette J, Pausen J, J Adv Nurs 2010 66 500 510 10.1111/j.1365-2648.2009.05217.x 20423385
    • (2010) J Adv Nurs , vol.66 , pp. 500-510
    • Skirton, H.1    Williams, J.2    Jackson Barnette, J.3    Pausen, J.4
  • 35
    • 16644367678 scopus 로고    scopus 로고
    • Meeting the needs of parents around the time of diagnosis of disability among their children: Evaluation of a novel program for information, support, and liaison by key workers
    • DOI 10.1542/peds.2004-0240
    • Meeting the needs of parents around the time of diagnosis of disability among their children: evaluation of a novel program for information, support and liaison by key workers. Rahi J, Manaras I, Tuomainen H, Hundt G, Pediatrics 2004 114 477 482 10.1542/peds.2004-0240 15466074 (Pubitemid 41534571)
    • (2004) Pediatrics , vol.114 , Issue.4
    • Rahi, J.S.1    Manaras, I.2    Tuomainen, H.3    Hundt, G.L.4
  • 37
    • 79951737325 scopus 로고    scopus 로고
    • From symptom onset to a diagnosis of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND): Experiences of people with ALS/MND and family carers - A qualitative study
    • 10.3109/17482968.2010.546414 21208037
    • From symptom onset to a diagnosis of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND): experiences of people with ALS/MND and family carers-a qualitative study. O'Brien M, Whitehead B, Jack B, Mitchell J, Amyotroph Lateral Scler 2011 12 97 104 10.3109/17482968.2010.546414 21208037
    • (2011) Amyotroph Lateral Scler , vol.12 , pp. 97-104
    • O'Brien, M.1    Whitehead, B.2    Jack, B.3    Mitchell, J.4
  • 38
    • 77950473731 scopus 로고    scopus 로고
    • Diagnostic delay in sternocostoclavicular hyperostosis: Impact on various aspects of quality of life
    • 10.1002/acr.20075
    • Diagnostic delay in sternocostoclavicular hyperostosis: impact on various aspects of quality of life. van der Kloot W, Chotkan S, Kaptein A, Hamdy N, Arthritis Care Res (Hoboken) 2010 62 251 257 10.1002/acr.20075
    • (2010) Arthritis Care Res (Hoboken) , vol.62 , pp. 251-257
    • Van Der Kloot, W.1    Chotkan, S.2    Kaptein, A.3    Hamdy, N.4
  • 39
    • 79751518949 scopus 로고    scopus 로고
    • Measuring integrated care
    • 21299927
    • Measuring integrated care. Strandberg-Larsen M, Dan Med Bull 2011 58 4245 21299927
    • (2011) Dan Med Bull , vol.58 , pp. 24245
    • Strandberg-Larsen, M.1
  • 40
    • 77954133345 scopus 로고    scopus 로고
    • What are the current barriers to effective cancer care coordination?A qualitative study
    • 10.1186/1472-6963-10-132 20482884
    • What are the current barriers to effective cancer care coordination?A qualitative study. Walsh J, Harrison J, Young J, Butow P, Solomon M, Masya L, BMC Health Serv Res 2010 10 132 10.1186/1472-6963-10-132 20482884
    • (2010) BMC Health Serv Res , vol.10 , pp. 132
    • Walsh, J.1    Harrison, J.2    Young, J.3    Butow, P.4    Solomon, M.5    Masya, L.6
  • 41
    • 65349092249 scopus 로고    scopus 로고
    • How did uncommon disorders become 'rare diseases'? History of a boundary object
    • 10.1111/j.1467-9566.2008.01143.x 19397760
    • How did uncommon disorders become 'rare diseases'? History of a boundary object. Huyard C, Sociol Health Illn 2009 31 463 477 10.1111/j.1467-9566.2008. 01143.x 19397760
    • (2009) Sociol Health Illn , vol.31 , pp. 463-477
    • Huyard, C.1
  • 43
    • 74049153278 scopus 로고    scopus 로고
    • Taking the patients side: The ethics of pharmacogenetics
    • 10.2217/pme.09.47
    • Taking the patients side: the ethics of pharmacogenetics. Hansson M, Personalized Medicine 2010 7 75 85 10.2217/pme.09.47
    • (2010) Personalized Medicine , vol.7 , pp. 75-85
    • Hansson, M.1
  • 44
    • 33646237560 scopus 로고    scopus 로고
    • Orphan drug designation and pharmacogenomics: Options and opportunities
    • 10.2165/00063030-200620020-00001 16626164
    • Orphan drug designation and pharmacogenomics: options and opportunities. Maher P, Haffner M, BioDrugs 2006 20 71 79 10.2165/00063030-200620020-00001 16626164
    • (2006) BioDrugs , vol.20 , pp. 71-79
    • Maher, P.1    Haffner, M.2
  • 45
    • 84868493462 scopus 로고    scopus 로고
    • Personalized Medicine: Pharmacogenomics of Rare and Monogenic Disorders in Pharmacogenomics and
    • Maher P, ed Personalized Medicine: Pharmacogenomics of Rare and Monogenic Disorders in Pharmacogenomics and 2008
    • (2008) Ed
    • Maher, P.1
  • 47
    • 84868470652 scopus 로고    scopus 로고
    • French experience with rare diseases plans
    • 10.1186/1750-1172-5-S1-O7
    • Le Henanff G. Tchernia G. French experience with rare diseases plans Orphanet Journal of Rare Disease 2010 5 157 10.1186/1750-1172-5-S1-O7
    • (2010) Orphanet Journal of Rare Disease , vol.5 , pp. 157
    • Le Henanff, G.1    Tchernia, G.2


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