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

Inés Adriana Cismondi, Romina Kohan, Heather Adams, Mike Bond, Rachel Brown, Jonathan D Cooper, Perla K de Hidalgo, Sophia-Martha Kleine Holthaus, Sara E Mole, Julia Mugnaini, Ana María Oller de Ramirez, Favio Pesaola, Gisela Rautenberg, Frances M Platt, Inés Noher de Halac
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...
October 2015: Biochimica et Biophysica Acta
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