Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.

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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 kno...

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Autores principales: Kohan, R., Cismondi, I.A., Adams, H., Bond, M., Brown, R., Cooper, J.D., Krupnik de Hidalgo, P., Kleine Holthaus, S.M., Mole, S.E., Mugnaini, J., Oller de Ramirez, A.M., Pesaola, F., Platt, F.M., Noher de Halac, I., Rautenberg, G.
Formato: article
Lenguaje:Inglés
Publicado: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2017
Materias:
Rare diseases
Neuronal ceroid-lipofuscinoses
Education
Research
Patient advocacy
Acceso en línea:http://hdl.handle.net/11086/4912
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R14111086-4912
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Rare diseases
Neuronal ceroid-lipofuscinoses
Education
Research
Education
Patient advocacy
spellingShingle Rare diseases
Neuronal ceroid-lipofuscinoses
Education
Research
Education
Patient advocacy
Kohan, R.
Cismondi, I.A.
Adams, H.
Bond, M.
Brown, R.
Cooper, J.D.
Krupnik de Hidalgo, P.
Kleine Holthaus, S.M.
Mole, S.E.
Mugnaini, J.
Oller de Ramirez, A.M.
Pesaola, F.
Platt, F.M.
Noher de Halac, I.
Rautenberg, G.
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
topic_facet Rare diseases
Neuronal ceroid-lipofuscinoses
Education
Research
Education
Patient advocacy
description 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 populationwith 1 in 17 people affected by a RDin 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 themit 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.
format article
author Kohan, R.
Cismondi, I.A.
Adams, H.
Bond, M.
Brown, R.
Cooper, J.D.
Krupnik de Hidalgo, P.
Kleine Holthaus, S.M.
Mole, S.E.
Mugnaini, J.
Oller de Ramirez, A.M.
Pesaola, F.
Platt, F.M.
Noher de Halac, I.
Rautenberg, G.
author_facet Kohan, R.
Cismondi, I.A.
Adams, H.
Bond, M.
Brown, R.
Cooper, J.D.
Krupnik de Hidalgo, P.
Kleine Holthaus, S.M.
Mole, S.E.
Mugnaini, J.
Oller de Ramirez, A.M.
Pesaola, F.
Platt, F.M.
Noher de Halac, I.
Rautenberg, G.
author_sort Kohan, R.
title Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
title_short Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
title_full Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
title_fullStr Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
title_full_unstemmed Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
title_sort guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
publisher Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.
publishDate 2017
url http://hdl.handle.net/11086/4912
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