Emergence of pediatric rare diseases

References

• Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet 2008; 371:2039 - 41; http://dx.doi.org/10.1016/S0140-6736(08)60872-7; PMID: 18555915
   PubMed Web of Science ®Google Scholar
• Moghadam H. The rare and the plentiful - a dilemma in pediatric manpower. Can Med Assoc J 1974; 110:497 - 8; PMID: 20312456
   PubMed Web of Science ®Google Scholar
• MacLeod S. Optimal therapy for rare disorders and genetic diseases: ethical and political challenges. Proc West Pharmacol Soc 2007; 50:21 - 3; PMID: 18605224
   PubMedGoogle Scholar
• Wästfelt M, Fadeel B, Henter J-I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 2006; 260:1 - 10; http://dx.doi.org/10.1111/j.1365-2796.2006.01666.x; PMID: 16789973
   PubMed Web of Science ®Google Scholar
• Remuzzi G, Garattini S. Rare diseases: what’s next?. Lancet 2008; 371:1978 - 9; http://dx.doi.org/10.1016/S0140-6736(08)60847-8; PMID: 18555899
   PubMed Web of Science ®Google Scholar
• United States Department of Health and Human Services, Public Health Service, Office of the Assistant Secretary for Health. Report of the National Commission on Orphan Diseases. Rockville, MD: Office of the Assistant Secretary for Health, 1989.
   Google Scholar
• Eurordis. Rare Diseases: Understanding this public health priority. Nov 2005. [cited 2011 Apr 21]. Available from: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf
   Google Scholar
• US Food and Drug Administration. Orphan Drug Act, Pub L. No. 97-414, 96 Stat. 2049. 1982. [cited 2011 Apr 21]. Available from: http://www.fda.gov/orphan/oda.htm
   Google Scholar
• Office of Rare Diseases. Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2005. August 2006. [cited 2011 Apr 21]. Available from: http://rarediseases.info.nih.gov/asp/html/reports/fy2005/Annual_Report_FY_05_Final.pdf
   Google Scholar
• Orphanet. French national plan for rare diseases 2005-2008: “Ensuring equity in the access to diagnosis, treatment and provision of care.” 2004 Nov 20. [cited 2011 Apr 21]. Available from: http://www.orpha.net/testor/doc/French_National_Plan.pdf
   Google Scholar
• Regulation (EC) No 1295/1999 of the European Parliament and of the Council of 29 April 1999 adopting a programme of Community action on rare diseases within the framework for action in the field of public health (1999-2003). Official Journal of the European Communities 1999; L155:1 - 5
   Google Scholar
• Regulation (EC) No 1786/2002 of the European Parliament and of the Council of 23 Sep 2002 adopting a programme of Community action in the field of public health (2003-2008). Official Journal of the European Communities 2002; L271:1 - 11
   Google Scholar
• Regulation (EC) No 1350/2007 of the European Parliament and of the Council of 23 Oct 2007 establishing a second programme of Community action in the field of health (2008-13). Official Journal of the European Union 2007; L301:3 - 13
   Google Scholar
• Council of the European Union. Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02) Official Journal of the European Union. 2009; C151:7 - 10
   Google Scholar
• Commission of the European Communities. Communication on Rare Diseases: Europe’s challenges. 2008 Nov 11. [cited 2011 Apr 21]. Available from: http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf
   Google Scholar
• American Academy of Pediatrics. National Center for Medical Home Implementation. [cited 2011 Apr 21]. Available from: http://www.medicalhomeinfo.org/
   Google Scholar
• Eurordis. The Rare Disease Patient Solidarity Project: RAPSODY. Nov 2007 [cited 2012 Jul 18]. Available from: http://www.eurordis.org/IMG/pdf/draft-leaflet_rapsody08-1.pdf
   Google Scholar
• Eurordis. Rare! Together: A new project to promote European disease-specific federations. June 2008. [cited 2011 Apr 21]. Available from: http://archive.eurordis.org/article.php3?id_article=1750%3F
   Google Scholar
• Department of Health Care Services. Special Care Centers. 2007. [cited 2011 Apr 21]. Available from: http://www.dhcs.ca.gov/services/ccs/scc/Pages/default.aspx
   Google Scholar
• Rare Disease Task Force expert group. Overview of current Centres of Reference on rare diseases in the EU. Report to the High Level Group on Health Services and Medical Care, and Annexes. September 2005. [cited 2011 Apr 21]. Available from: http://www.orpha.net/testor/doc/rdtf/wg/ECRFinalReport.pdf
   Google Scholar
• Commission of the European Communities. Communication on Rare Diseases: Europe’s challenges and the proposal for a Council recommendation on a European action in the field of rare diseases. Europa. 2008 Nov 11. [cited 2011 Apr 21]. Available from: http://ec.europa.eu/health/ph_threats/non_com/docs/impact_assessment_en.pdf
   Google Scholar
• Rare Disease Task Force expert group. Centres of Reference for rare diseases in Europe: State-of-the-art in 2006 and recommendations of the Rare Diseases Task Force. Report to the High Level Group on Health Services and Medical Care, and Annexes. December 2006. [cited 2011 Apr 21]. Available from: http://www.eucerd.eu//upload/file/Publication/RDTFECR2006.pdf
   Google Scholar
• US Department of Health & Human Services, National Institutes of Health. Biennial Report of the Director, NIH, FY 2008& 2009: NIH Centers of Excellence, Rare Diseases Clinical Research Network. September 2010. [cited 2011 Apr 21]. Available from: http://report.nih.gov/biennialreport/ViewSection.aspx?sid=27&cid=4
   Google Scholar
• Levy PA. An overview of newborn screening. J Dev Behav Pediatr 2010; 31:622 - 31; http://dx.doi.org/10.1097/DBP.0b013e3181eedf01; PMID: 20814260
   PubMed Web of Science ®Google Scholar
• Faucett WA, Hart S, Pagon RA, Neall LF, Spinella G. A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program. Genet Med 2008; 10:343 - 8; http://dx.doi.org/10.1097/GIM.0b013e318172837c; PMID: 18496033
   PubMed Web of Science ®Google Scholar
• 107th Congress. Text of H.R. 4013: Rare Diseases Act of 2002. 2002 Oct 22. [cited 2011 Apr 21]. Available from: http://www.govtrack.us/congress/billtext.xpd?bill=h107-4013
   Google Scholar
• Heemstra HE, van Weely S, Büller HA, Leufkens HG, de Vrueh RL. Translation of rare disease research into orphan drug development: disease matters. Drug Discov Today 2009; 14:1166 - 73; http://dx.doi.org/10.1016/j.drudis.2009.09.008; PMID: 19818412
   PubMed Web of Science ®Google Scholar
• Drummond MF, Wilson DA, Kanavos P, Ubel P, Rovira J. Assessing the economic challenges posed by orphan drugs. Int J Technol Assess Health Care 2007; 23:36 - 42; http://dx.doi.org/10.1017/S0266462307051550; PMID: 17234015
   PubMed Web of Science ®Google Scholar
• Haffner ME. Adopting orphan drugs--two dozen years of treating rare diseases. N Engl J Med 2006; 354:445 - 7; http://dx.doi.org/10.1056/NEJMp058317; PMID: 16452556
   PubMed Web of Science ®Google Scholar
• National Institute of Health, Office of Rare Diseases Research. Therapeutics for Rare and Neglected Diseases. May 2009. [cited 2011 Apr 21]. Available from: http://rarediseases.info.nih.gov/Resources.aspx?PageID=32
   Google Scholar
• Centers for Disease Control and Prevention, National Center for Health Statistics. Progress toward implementing community-bases systems of services for Children with Special Health Care Needs: Summary tables from the National Survey of Children with Special Health Care Needs, 2005-2006. 2007 Dec 19. [cited 2011 Apr 21]. Available from: http://www.cdc.gov/nchs/data/slaits/Summary_tables_NSCSHCN_0506.pdf
   Google Scholar
• van Dyck PC, Kogan MD, McPherson MG, Weissman GR, Newacheck PW. Prevalence and characteristics of children with special health care needs. Arch Pediatr Adolesc Med 2004; 158:884 - 90; http://dx.doi.org/10.1001/archpedi.158.9.884; PMID: 15351754
   PubMed Web of Science ®Google Scholar
• Eurordis. EurordisCare1: survey comparing health care, 6 diseases, 17 countries (2003). [cited 2011 Apr 21]. Available from: http://archive.eurordis.org/article.php3?id_article=453&var_recherche=eurordiscare
   Google Scholar
• Eurordis. EurordisCare2: survey of diagnostic delays, 8 diseases, Europe (2004). [cited 2011 Apr 21]. Available from: http://archive.eurordis.org/article.php3?id_article=454&var_recherche=eurordiscare
   Google Scholar
• Le Cam Y. Patients’ needs and expectations concerning access to health services-Eurordiscare 3 study. 4th European Conference on Rare Diseases, Conference Report, 2007. [cited 2011 Apr 21]. Available from: http://www.eurordis.org/IMG/pdf/ECRD2007-LeCam.pdf
   Google Scholar
• European Conference on Rare Diseases. 4th European Conference on Rare Diseases: Patients at the Heart of rare disease policy development. ECRD Policy Implementation (2007). [cited 2011 Apr 21]. Available from: http://www.rare-diseases.eu/2007/IMG/File/ECRD%202007%20report.pdf
   Google Scholar
• Werner MJ, American Academy of Pediatrics Committee on Child Health Financing. Principles of child health care financing. Pediatrics 2003; 112:997 - 9; http://dx.doi.org/10.1542/peds.112.4.997; PMID: 14523202
   PubMed Web of Science ®Google Scholar
• Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, et al. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 2012; 4:38ra78; http://dx.doi.org/10.1126/scitranslmed.3003544; PMID: 22700954
   PubMed Web of Science ®Google Scholar