Bibliography

ACMG Board of Directors (2015) Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics, Genetics in Medicine, 17(6): 505-7. Epub published on March 12, 2015. Text available at: https://doi.org/10.1038/gim.2015.41 (accessed on April 12, 2023).

Albertson, D.G., Pinkel, D. (2003) Genomic microarrays in human genetic disease and cancer, Human Molecular Genetics, vol. 12, issue suppl_2: R145-52. Epub published on October 15 2003. Text available at: https://doi.org/10.1093/hmg/ddg261 (accessed on April 12, 2023).

Ankeny, R.A. (2006) Wormy Logic: Model Organisms As Case-Based Reasoning, Working Paper on The Nature of Evidence: How Well Do Facts Travel?, 07/06: London School of Economics and Political Science. Text available at: http://eprints.lse.ac.uk/22541/ (accessed on April 12, 2023).

Ankeny, R.A. (2017) The case study in medicine. In: M. Solomon, J. Simon and H. Kincaid, by The Routledge Companion to Philosophy of Medicine, London: Routledge, pp. 310-318.

Astolfo, R., Porchia, S. (2018) Le persone con malattia rara in Italia, MonitoRare – Quarto rapporto sulla condizione della persona con Malattia Rara in Italia, Roma: UNIAMO Federazione Italiana Malattie Rare, pp. 29-40. Text available at: http://www.uniamo.org/wp-content/uploads/2019/06/Monitorare-2018-_italiano.pdf (accessed on April 12, 2023).

Auvin, S., Irwin, J., Abi-Aad, P., Battersby, A. (2018) The Problem of Rarity: Estimation of Prevalence in Rare Disease, Value in Health, 21: 501-507.

Barrera, L.A., Galindo, G.C. (2010) Ethical aspects on rare diseases. In: Posada de la Paz, M., Groft, S., eds., Rare Diseases Epidemiology, Advances in Experimental Medicine and Biology, Dordrecht: Springer, vol. 686, pp. 493-511.

Beauchamp, T.L., Childress, J.F. (1999) Principi di Etica Biomedica, Firenze: Le Lettere.

Bowlby, J. (1958) The nature of the child’s tie to his mother, The International Journal of Psychoanalysis, 39: 350-373.

Boycott, K.M., Vanstone, M.R., Bulman, D.E., MacKenzie, A.E. (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation, Nature Reviews Genetics, October issue, 14(10): 681-91. Text available at: https://doi.org/10.1038/nrg3555 (accessed on April 12, 2023).

Callahan, D. (1973) The WHO definition of “health”, Studies Hastings Center, 1: 77-88.

Camaioni, L., Di Blasio, P. (2007) Psicologia dello sviluppo, Bologna: Il Mulino.

Cartwright, N. (1999) The Dappled World, Cambridge: CUP.

Cartwright, N. (2000) An Empiricist Defense of Singular Causes, Royal Institute of Philosophy Supplement, 46: 47-58.

Cavazza, M., Kodra Y., Armeni P., De Santis M., López-Bastida J. et al. (2016) Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe, European Journal of Health Economics, 17(Suppl. 1): S19-S29.

Commission Expert Group on Rare Diseases – CEGRD (2016) Recommendations to Support the Incorporation of Rare Diseases into Social Services and Policies, April issue. Text available at: https://ec.europa.eu/health//sites/health/files/rare_diseases/docs/recommendations_socialservices_policies_en.pdf (accessed on April 12, 2023).

D’Alberton, F. (2018) Bambini in ospedale: un approccio psicoanalitico, Milano: Franco Angeli.

Daniels, N. (1998) Is there a right to health care and, if so, what does it encompass?. In: H. Kuhse, P. Singer, eds., A Companion to Bioethics, Oxford: Blackwell, pp. 316-25.

Decreto Ministeriale n. 15 del 12 gennaio 2017, Italia. Definizione e aggiornamento dei livelli essenziali di assistenza, Gazzetta Ufficiale, n. 65 del 18 maggio 2017. Text available at: http://www.salute.gov.it/portale/esenzioni/dettaglioContenutiEsenzioni.jsp?lingua=italiano&id=4773&area=esenzioni&menu=vuoto (last access: May 6, 2020).

Decreto Ministeriale n. 279 del 18 maggio 2001, Italia. Regolamento di istituzione della rete nazionale delle malattie rare e di esenzione dalla partecipazione al costo delle relative prestazioni sanitarie, Gazzetta Ufficiale, n. 160 del 12 luglio 2001.

Douzgou, S., Clayton-Smith, J., Gardner, S., et al. (2014) Dysmorphology at a distance: results of a web-based diagnostic service, European Journal of Human Genetics, 22: 327-332. Text available at: https://doi.org/10.1038/ejhg.2013.137 (accessed on April 12, 2023).

Drummond, M., Schulpher, M.J., Torrance, G. W., O’Brien, B.J., Stoddart, L.G. (2010) Metodi per la valutazione economica dei programmi sanitari, Torino: Il pensiero scientifico.

Dupré, J. (1993) The Disorder of Things, Cambridge, MA.: Harvard University Press.

Durmaz, A.A., et al. (2015) Evolution of genetic techniques: past, present, and beyond, BioMed research international, article n. 461524. Text available at: https://doi.org/10.1155/2015/461524 (accessed on April 12, 2023).

Field, M.J., Boat, T.F., eds. (2010) Rare Diseases and Orphan Products: Accelerating Research and Development, Washington, DC: The National Academies Press (US), pp. 41-55. Text available at: https://www.nap.edu/catalog/12953/rare-diseases-and-orphan-products-accelerating-research-and-development (accessed on April 12, 2023).

Franchini, M., Mannucci, P.M. (2017) Management of Hemophilia in Older Patients, Drugs & Aging, 34(12): 881-889.

Gabbani, C. (2013) Epistemologia e clinica, Pisa: ETS.

Garber, J.E., Offit, K. (2005) Hereditary Cancer Predisposition Syndromes, Journal of Clinical Oncology, 23(2): 276-292.

Hall, B.D. (1993) The state of the art of dysmorphology, American Journal of Diseases of Children, 147(11): 1184-1189.

Heather, J.M., Chain, B. (2016) The sequence of sequencers: The history of sequencing DNA, Genomics, 107(1): 1-8. Text available at: https://doi.org/10.1016/j.ygeno.2015.11.003 (accessed on May 6, 2020).

Hendriksz, C. (2013) Rare Disease Impact Report: Insights from patients and the medical community, Shire Human Genetic Therapies, April. Text available at: https://www.researchgate.net/publication/236982217_Rare_Disease_Impact_Report_Insights_from_patients_and_the_medical_community (accessed on April 12, 2023).

Hennekam, R.C.M., and Biesecker, L.G. (2012) Next-Generation Sequencing Demands Next-Generation Phenotyping, Human Mutation, Vol. 33, 5: 884-886. Doi: https://doi.org/10.1002/humu.22048 (accessed on April 12, 2023).

Holtzman, N.A., Watson, M.S. (1999) Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing, Journal of child and family nursing, Sep-Oct, 2(5): 388-390.

Hunter, A.G.W. (2002) Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs, Canadian Medical Association Journal, 167(4): 367-372. Text available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC117854/ (accessed on April 12, 2023).

Ierardi, F., Gnaulati, L., Maggino, F., Rodella, S., Ruviglioni, E. (2010) La Health Related Quality of Life (HRQoL): analisi dell’evoluzione di un concetto, conferenza Qualità della vita: riflessioni, studi e ricerche in Italia, Firenze, 9-10 settembre. Text available at: https://www.ars.toscana.it/aree-dintervento/strumenti-e-metodi/misurare-la-qualita-della-vita/dati-e-statistiche/1197-misurare-la-qualita-della-vimisurare-la-qualita-della-vita-la-health-related-quality-of-life-hrqol-analisi-dell-evoluzione-di-un-concetto-ottobre-2009.html (last access: May 6, 2020).

International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome, Nature, 431: 931-945. Text available at: https://doi.org/10.1038/nature03001 (accessed on April 12, 2023).

Jamuar, S.S., Tan, E.-C. (2015) Clinical application of next-generation sequencing for Mendelian diseases, Human Genomics, 9, article n.10. Text available at: https://doi.org/10.1186/s40246-015-0031-5 (accessed on April 12, 2023).

Janssen, M.M., Bergsma, A., Geurts, A.C., de Groot, I.J. (2014) Patterns of decline in upper limb function of boys and men with DMD: an international survey, Journal of Neurology, 261(7): 1269-1268.

Jenicek, M. (2001) Clinical-Case Reporting in Evidence-Based Medicine, London: Arnold.

Juth, N. (2017) For the Sake of Justice: Should We Prioritize Rare Diseases?, Health Care Analysis, 25: 1-20.

Kodra, Y., Cavazza, M., Schieppati, A., De Santis, M., Armeni, P. et al. (2014) The social burden and quality of life of patients with haemophilia in Italy, Blood Transfusion, 12(Suppl. 3): S567-S575.

Lander, E.S., et al. International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome, Nature, 409(6822): 860-921. Text available at: https://doi.org/10.1038/35057062 (accessed on April 12, 2023).

Liao, L.M., et al. (2009) Service users’ experiences of obtaining and giving information about disorders of sex development, BJOG: An International Journal of Obstetrics and Gynaecology, 117(2): 193-199. Text available at: https://doi.org/10.1111/j.1471-0528.2009.02385.x (accessed on April 12, 2023).

Liu, B., He, L., He, G., He, Y. (2010) A cross national comparative study of orphan drug policies in the United States, the European Union, and Japan: Towards a made-in-China orphan drug policy, Journal of Public Health Policy, 31: 407-420.

López-Bastida, J., Oliva-Moreno, J., Linertova, R., Serrano-Aguilar, P. (2016) Social/economic costs and health-related quality of life in patients with rare diseases in Europe, European Journal of Health Economics, 17(Suppl. 1): S1-S5.

Mancuso, V., Boncinelli, L. (2008) Il dolore innocente: l’handicap, la natura e Dio, Milano: Mondadori.

McPherson, E. (2006) Genetic diagnosis and testing in clinical practice, Clinical medicine & research, 4(2): 123-129.

Mikami, K., Sturdy, S. (2017) Patient organization involvement and the challenge of securing access to treatments for rare diseases: report of a policy engagement workshop, Research Involvement and Engagement, vol. 3, 14: 1-13.

Ministero della Salute (2014) Piano Nazionale Malattie Rare 2013-2016, Roma. Text available at: http://www.salute.gov.it/portale/documentazione/p6_2_2_1.jsp?id=2153 (accessed on April 12, 2023).

Montgomery, K. (1991) Doctor’s Stories, Princeton: Princeton University Press.

Nambot, S., et al. Orphanomix Physicians’ Group (2018) Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis, Genetics in Medicine, 20(6): 645-654. Text available at: https://doi.org/10.1038/gim.2017.162 (accessed on April 12, 2023).

ONU (2007) Convenzione sui diritti delle persone con disabilità, Consiglio Nazionale sulla Disabilità e della Federazione Italiana per il Superamento dell’Handicap, traduzione italiana a cura del, M.R. Saulle, revisione a cura di, Roma: UNICEF. Text available at: https://www.unicef.it/Allegati/Convenzione_diritti_persone_disabili.pdf (last access: May 6, 2020).

Orphan Drug Act (1983) Public Law 97–414, 97th Congress, pp. 2049-2066. Text available at: https://www.fda.gov/media/99546/download (accessed on April 12, 2023).

Orphanet (2018) 2017 Activity Report, Orphanet Report Series, Reports Collection, September, (V1.2). Text available at: http://www.orpha.net/orphacom/cahiers/docs/GB/ActivityReport2017.pdf (accessed on April 12, 2023).

Orphanet (2019) Rare Disease Registries in Europe, Orphanet Report Series, Rare Diseases Collection, May. Text available at: http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf (accessed on April 12, 2023).

Orphanet (2020) Prevalence and incidence of rare diseases: Bibliographic data, Orphanet Report Series, January – Number 1. Text available at: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf (accessed on April 12, 2023).

Park, S., Jung, E.H., Ryu, R., et al. (2011) Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases, Molecular Cytogenetics, 4, article n. 12. Text available at: https://doi.org/10.1186/1755-8166-4-12 (accessed on April 12, 2023).

Paulson, H., (2018) Repeat expansion diseases, Handbook of Clinical Neurology, vol. 147: 105-123. Doi: 10.1016/B978-0-444-63233-3.00009-9.

Pinkel, D., et al. (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays, Nature Genetics, 20(2): 207-211.

Quaderni del Ministero della Salute (2013) Criteri di appropriatezza clinica, tecnologica e strutturale nell’assistenza del paziente complesso, Roma: Ministero della Salute. Text available at: http://www.salute.gov.it/imgs/C_17_pubblicazioni_2560_allegato.pdf (accessed on April 12, 2023).

Quaid, K.A. (2017) Genetic testing for Huntington disease, Handbook of Clinical Neurology, 144: 113-126. Doi: 10.1016/B978-0-12-801893-4.00010-9.

Quintáns, B., Ordóñez-Ugalde, A., Cacheiro, P., Carracedo, A., Sobrido, M.J. (2014) Medical genomics: The intricate path from genetic variant identification to clinical interpretation, Applied and translational genomics, 3(3): 60-67. Text available at: https://doi.org/10.1016/j.atg.2014.06.001 (accessed on April 12, 2023).

Rai, A. (2002) Pharmacogenetic interventions, orphan drugs, and distributive justice: the role of cost-benefit analysis, Social Philosophy and Policy, 19(2): 246-270.

Rebecchi, D., a cura di (2018) I percorsi clinici della psicologia. Metodi, strumenti e procedure nel Sistema Sanitario Nazionale, Milano: Franco Angeli.

Regione Emilia-Romagna (2011) Organizzazione della Rete regionale Hub & Spoke per le malattie rare pediatriche, Bollettino Ufficiale Regione Emilia-Romagna n. 12, 18 gennaio 2012, Delibera di Giunta regionale 19 dicembre 2011, n. 1897.

Regione Emilia-Romagna (2017) Ridefinizione della rete regionale per le malattie rare di cui alla DGR 160/2004 in applicazione del DPCM 12.1.2017 recante definizione e aggiornamento livelli essenziali di assistenza, Bollettino Ufficiale Regione Emilia-Romagna n.279 del 18.10.2017, Delibera di Giunta regionale 19 settembre 2017, n. 1351.

Regulation (EC) n. 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products, Official Journal of the European Communities, 22/1/2000. Text available at: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:en:PDF (accessed on April 12, 2023).

Richter, T., et al. (2015) Rare Disease Terminology and Definitions – A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group, Value in Health, 18(6): 906-914. Text available at: https://doi.org/10.1016/j.jval.2015.05.008 (accessed on April 12, 2023).

Robertson, J. (1973) Bambini in ospedale. L., Nahon, traduzione italiana a cura di, Milano: Feltrinelli.

Robin, N.H. (2018) Teaching dysmorphology in the era of genomics: new technologies, new learners, Current Opinion in Pediatrics, 30(6): 699-700.

Rodwell, C., Aymé, S., eds. (2014) 2014 Report on the State of the Art of Rare Disease Activities in Europe, July. Text available at: http://www.eucerd.eu/upload/file/Reports/2014ReportStateofArtRDActivities.pdf (last access: May 6, 2020).

Rodwell, C., Aymé, S. (2015) Rare disease policies to improve care for patients in Europe, Biochimica et Biophysica Acta, 1852(10, Part B): 2329-2335. Text available at: https://doi.org/10.1016/j.bbadis.2015.02.008 (accessed on April 12, 2023).

Salerno, P., Agazio, E., Taruscio, D. (2005) Elementi di epidemiologia e malattie rare, Rapporti ISTISAN 05/11, Roma: Istituto Superiore di Sanità, pp. 9-14. Text available at: http://old.iss.it/binary/publ/publi/05-11.1122626500.pdf (last access: May 6, 2020).

Sarajarvi, A., Haapamaki, M.L., Paavilainen, E. (2006) Emotional and informational support for families during their child’s illness, International Nursing Review, 53(3): 205-210.

Sawyer, M., Couper, J., Martin, J., Kennedy, J. (2003) Chronic illness in adolescents, The Medical journal of Australia, 179: 237.

Starke, M., et al. (2002) Parent’s experiences of receiving the diagnosis of Turner Syndrome: an explorative and retrospective study, Patient education and counseling, 47(4): 347-354.

Stolk, P., Willemen, M.J.C., Leufkens, H.G.M. (‎2006)‎ Rare essentials: drugs for rare diseases as essential medicines, Bulletin of the World Health Organization, 84(‎9): 745-751.

Stoller, J.K. (2018) The Challenge of Rare Diseases, CHEST, 153(6): 1309-1314. Text available at: https://doi.org/10.1016/j.chest.2017.12.018 (accessed on April 12, 2023).

Sutton, E., et al. (2006) Truth telling and Turner syndrome: the importance of diagnostic disclosure. The journal of pediatrics, 148(1): 102-107.

Suzigan, L.Z.C., et al. (2004) Turner syndrome: the patients’ view, Jornal de Pediatria, 80(4): 309-314. Text available at: http://www.jped.com.br/conteudo/04-80-04-309/ing.asp (last access: May 6, 2020).

Tarricone, R. (2006) Cost-of-illness analysis. What room in health economics? Health Policy, 77: 51-63.

Taruscio, D., Cerbo, M. (1999) Malattie rare: concetti generali, problemi specifici ed interventi sanitari, Annali dell’Istituto Superiore di Sanità, 35: 237-244.

Taruscio, D., et al. (2017) Il Registro Nazionale Malattie Rare nel contesto nazionale ed internazionale – 3° Rapporto (dati al 31 dicembre 2014), Rapporti ISTISAN 17/8, Roma: Istituto Superiore di Sanità, pp. 22-27. Text available at: http://old.iss.it/binary/publ/cont/17_8_web.pdf (last access: May 6, 2020).

Vasudevan, P., Suri, M.A. (2017) A clinical approach to developmental delay and intellectual disability, Clinical Medicine Journal, Dec, 17(6): 558-561. Text available at: https://doi.org/10.7861/clinmedicine.17-6-558 (accessed on April 12, 2023).

Venter, J.C., et al. (2001) The sequence of the human genome, Science, Feb 16, 291(5507): 1304-1351.

Wang, D., Pascual, J.M., De Vivo, D. (2002) Glucose Transporter Type 1 Deficiency Syndrome, July 30 [updated 2018 Mar 1]. In: M.P. Adam, H.H. Ardinger, R.A. Pagon, et al., editors, GeneReviews®. Seattle (WA): University of Washington. Text available at: https://www.ncbi.nlm.nih.gov/books/NBK1430/ (accessed on April 12, 2023).

Wästfelt, M., Fadeel, B., Henter, J.I. (2006) A journey of hope: lessons learned from studies on rare diseases and orphan drugs, Journal of Internal Medicine, 260(1): 1-10.

WHO (2018) World Health Organization releases new International Classification of Diseases (ICD 11), 18 June. Text available at: https://www.who.int/news-room/detail/18-06-2018-who-releases-new-international-classification-of-diseases-(icd-11) (accessed on April 12, 2023).

Williams, A. (1996) QALYS and ethics: A health economist’s perspective, Social Science and Medicine, 43(12): 1795-1804.

Winnicott, D.W. (1970) Sviluppo affettivo e ambiente, Roma: Armando.

Wolinsky, H. (2005), “Disease Mongering and Drug Marketing”, EMBO vol. 6, 7: 612-614.

Wright, C., Steinway, C., Jan, S. (2018) The Genesis of Systems of Care for Transition to Adulthood Services: Emerging Models in Primary and Subspecialty Care, Current Opinion in Pediatrics, 30(2): 303-310.

Xue, Y., Ankala, A., Wilcox, W., et al (2015) Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing, Genetics in Medicine, 17: 444-451. Doi: 10.1038/gim.2014.122.

Zamora, B., Maignen, F., O’Neill, P., Mestre-Ferrandiz, J., Garau, M. (2019) Comparing access to orphan medicinal products in Europe, Orphanet Journal of Rare Diseases, 14, article n. 95. Text available at: https://doi.org/10.1186/s13023-019-1078-5 (accessed on April 12, 2023).

Zani, B., Cicognani, E. (2000) Psicologia della salute, Bologna: Il Mulino.