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dc.contributor.author
Cismondi, Inés Adriana
dc.contributor.author
Kohan, Romina
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Adams, Heather
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Bond, Mike
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Brown, Rachel
dc.contributor.author
Cooper, Jonathan D.
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de Hidalgo, Perla K.
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Holthaus, Sophia Martha Kleine
dc.contributor.author
Mole, Sara E.
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Mugnaini, Julia
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Oller de Ramirez, Ana María
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Pesaola, Favio Nicolas
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Rautenberg, Gisela Evelín
dc.contributor.author
Platt, Frances M.
dc.contributor.author
Noher, Rita Ines
dc.date.available
2019-02-07T18:04:55Z
dc.date.issued
2015-10
dc.identifier.citation
Cismondi, Inés Adriana; Kohan, Romina; Adams, Heather; Bond, Mike; Brown, Rachel; et al.; Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: Neuronal ceroid lipofuscinoses as a model disorder; Elsevier Science; Biochimica et Biophysica Acta - Molecular Basis of Disease; 1852; 10; 10-2015; 2316-2323
dc.identifier.issn
0925-4439
dc.identifier.uri
http://hdl.handle.net/11336/69663
dc.description.abstract
This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's Training Programs. Our aim is to develop guidelines for improving scientific knowledge and practice in higher education and continuous learning programs.Rare diseases (RD) are collectively common in the general population with 1 in 17 people affected by a RD in their lifetime. Inherited defects in genes involved in metabolism are the commonest group of RD with over 8000 known inborn errors of metabolism. The majority of these diseases are neurodegenerative including the NCLs. Any professional training program on NCL must take into account the medical, social and economic burdens related to RDs. To address these challenges and find solutions to them it is necessary that individuals in the government and administrative authorities, academia, teaching hospitals and medical schools, the pharmaceutical industry, investment community and patient advocacy groups all work together to achieve these goals.The logistical issues of including RD lectures in university curricula and in continuing medical education should reflect its complex nature. To evaluate the state of education in the RD field, a summary should be periodically up dated in order to assess the progress achieved in each country that signed up to the international conventions addressing RD issues in society. It is anticipated that auditing current practice will lead to higher standards and provide a framework for those educators involved in establishing RD teaching programs world-wide.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Science
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Advocacy
dc.subject
Education
dc.subject
Neuronal Ceroid Lipofuscinoses
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Rare Disease
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Research
dc.subject
Training
dc.subject.classification
Salud Ocupacional
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Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: Neuronal ceroid lipofuscinoses as a model disorder
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-02-07T14:48:52Z
dc.journal.volume
1852
dc.journal.number
10
dc.journal.pagination
2316-2323
dc.journal.pais
Países Bajos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Cismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.description.fil
Fil: Kohan, Romina. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.description.fil
Fil: Adams, Heather. University Of Rochester School Of Medicine And Dentistry; Estados Unidos
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Fil: Bond, Mike. Colegio Universitario de Londres; Reino Unido
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Fil: Brown, Rachel. Colegio Universitario de Londres; Reino Unido
dc.description.fil
Fil: Cooper, Jonathan D.. King's College London; Reino Unido
dc.description.fil
Fil: de Hidalgo, Perla K.. Universidad Nacional de Córdoba; Argentina
dc.description.fil
Fil: Holthaus, Sophia Martha Kleine. Ucl Institute Of Ophthalmology; Reino Unido. Colegio Universitario de Londres; Reino Unido
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Fil: Mole, Sara E.. Colegio Universitario de Londres; Reino Unido
dc.description.fil
Fil: Mugnaini, Julia. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Oller de Ramirez, Ana María. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.description.fil
Fil: Pesaola, Favio Nicolas. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.description.fil
Fil: Rautenberg, Gisela Evelín. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.description.fil
Fil: Platt, Frances M.. University of Oxford; Reino Unido
dc.description.fil
Fil: Noher, Rita Ines. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
dc.journal.title
Biochimica et Biophysica Acta - Molecular Basis of Disease
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.sciencedirect.com/science/article/pii/S0925443915001842
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1016/j.bbadis.2015.06.018
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