TY - JOUR
T1 - Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education
T2 - Neuronal ceroid lipofuscinoses as a model disorder
AU - Cismondi, Inés Adriana
AU - Kohan, Romina
AU - Adams, Heather
AU - Bond, Mike
AU - Brown, Rachel
AU - Cooper, Jonathan D.
AU - de Hidalgo, Perla K.
AU - Holthaus, Sophia Martha Kleine
AU - Mole, Sara E.
AU - Mugnaini, Julia
AU - de Ramirez, Ana María Oller
AU - Pesaola, Favio
AU - Rautenberg, Gisela
AU - Platt, Frances M.
AU - de Halac, Inés Noher
N1 - Publisher Copyright:
© 2015 Elsevier B.V.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - 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.
AB - 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.
KW - Advocacy
KW - Education
KW - Neuronal ceroid lipofuscinoses
KW - Rare disease
KW - Research
KW - Training
UR - http://www.scopus.com/inward/record.url?scp=84940796249&partnerID=8YFLogxK
U2 - 10.1016/j.bbadis.2015.06.018
DO - 10.1016/j.bbadis.2015.06.018
M3 - Article
C2 - 26117801
AN - SCOPUS:84940796249
SN - 0925-4439
VL - 1852
SP - 2316
EP - 2323
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
IS - 10
ER -