Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
Date
2015Author
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.
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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 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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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.
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