title: Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
abstract: 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.
authors.affiliation: 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.
authors.forename: Inés Adriana
authors.initials: IA
authors.lastname: Cismondi
authors.affiliation: 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.
authors.forename: Romina
authors.initials: R
authors.lastname: Kohan
authors.affiliation: Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. Electronic address: heather_adams@urmc.rochester.edu.
authors.forename: Heather
authors.initials: H
authors.lastname: Adams
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: michael.bond@ucl.ac.uk.
authors.forename: Mike
authors.initials: M
authors.lastname: Bond
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: rachel.brown.10@ucl.ac.uk.
authors.forename: Rachel
authors.initials: R
authors.lastname: Brown
authors.affiliation: 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.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Cooper
authors.affiliation: Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: perlakdehidalgo@gmail.com.
authors.forename: Perla K
authors.initials: PK
authors.lastname: de Hidalgo
authors.affiliation: 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.
authors.forename: Sophia-Martha Kleine
authors.initials: SM
authors.lastname: Holthaus
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: s.mole@ucl.ac.uk.
authors.forename: Sara E
authors.initials: SE
authors.lastname: Mole
authors.affiliation: 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.
authors.forename: Julia
authors.initials: J
authors.lastname: Mugnaini
authors.affiliation: 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.
authors.forename: Ana María Oller
authors.initials: AM
authors.lastname: de Ramirez
authors.affiliation: 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.
authors.forename: Favio
authors.initials: F
authors.lastname: Pesaola
authors.affiliation: 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.
authors.forename: Gisela
authors.initials: G
authors.lastname: Rautenberg
authors.affiliation: Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK. Electronic address: frances.platt@pharm.ox.ac.uk.
authors.forename: Frances M
authors.initials: FM
authors.lastname: Platt
authors.affiliation: 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.
authors.forename: Inés
authors.initials: I
authors.lastname: Noher de Halac
keywords: Advocacy; Education; Neuronal ceroid lipofuscinoses; Rare disease; Research; Training