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

Autor:	Cismondi IA; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: ines.adriana.cismondi@unc.edu.ar., Kohan R; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: kohanromina@gmail.com., Adams H; Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. Electronic address: heather_adams@urmc.rochester.edu., Bond M; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: michael.bond@ucl.ac.uk., Brown R; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: rachel.brown.10@ucl.ac.uk., Cooper JD; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology & Neuroscience, James Black Centre, 125 Coldharbour Lane, London SE5 9NU, UK. Electronic address: jon.cooper@kcl.ac.uk., de Hidalgo PK; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: perlakdehidalgo@gmail.com., Holthaus SM; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; Department of Genetics, UCL Institute of Ophthalmology, London EC1V 9EL, UK. Electronic address: s.kleine.holthaus.11@ucl.ac.uk., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: s.mole@ucl.ac.uk., Mugnaini J; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: juliamugnaini@gmail.com., de Ramirez AM; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: ramirezoller@gmail.com., Pesaola F; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: favio.pesaola@gmail.com., Rautenberg G; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: gisela.rautenberg@gmail.com., Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK. Electronic address: frances.platt@pharm.ox.ac.uk., Noher de Halac I; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: rhalac@arnet.com.ar.
Jazyk:	angličtina
Zdroj:	Biochimica et biophysica acta [Biochim Biophys Acta] 2015 Oct; Vol. 1852 (10 Pt B), pp. 2316-23. Date of Electronic Publication: 2015 Jun 24.
DOI:	10.1016/j.bbadis.2015.06.018
Abstrakt:	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. (Copyright © 2015 Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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