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

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.

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.

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Main Authors:	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.
Format:	article biblioteca
Language:	eng
Published:	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2015
Subjects:	Rare diseases, Neuronal ceroid-lipofuscinoses, Education, Research, Patient advocacy,
Online Access:	http://hdl.handle.net/11086/4912
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spelling	dig-unc-ar-11086-49122022-06-08T11:32:21Z Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder. 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. Rare diseases Neuronal ceroid-lipofuscinoses Education Research Education Patient advocacy 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. publishedVersion 2017-08-14T13:56:27Z 2017-08-14T13:56:27Z 2015 article Cismondi, I.A, Kohana, R, Adams, H, Bond, M, Browne, R., Cooper, J.D, K de hidalgo, P, Kleine holthaus, S.M, Mole, S.E, Mugnaini, J., Oller de Ramirez, A.M, Pesaola, F, Rautenberg, G, Platt, F.M, Noher de Halac, I. Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochim Biophys Acta. 2015;1852(10 Part2): 2316-2323. 1878-2434 http://hdl.handle.net/11086/4912 eng Atribución-NoComercial-CompartirIgual 4.0 Internacional https://creativecommons.org/licenses/by-nc-sa/4.0/deed.es Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.
institution	UNC AR
collection	DSpace
country	Argentina
countrycode	AR
component	Bibliográfico
access	En linea
databasecode	dig-unc-ar
tag	biblioteca
region	America del Sur
libraryname	Biblioteca 'Ing. Agrónomo Moisés Farber' de la Facultad de Ciencias Agropecuarias
language	eng
topic	Rare diseases Neuronal ceroid-lipofuscinoses Education Research Education Patient advocacy Rare diseases Neuronal ceroid-lipofuscinoses Education Research Education Patient advocacy
spellingShingle	Rare diseases Neuronal ceroid-lipofuscinoses Education Research Education Patient advocacy 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.
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
topic_facet	Rare diseases Neuronal ceroid-lipofuscinoses Education Research Education Patient advocacy
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	2015
url	http://hdl.handle.net/11086/4912
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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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