NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington (DC): National Academies Press (US); 2010.

Cover of Rare Diseases and Orphan Products

Rare Diseases and Orphan Products: Accelerating Research and Development.

Show details

References

  1. AAAS (American Association for the Advancement of Science). Programs, Science and Policy, R&D Budget and Policy Program. 2009. [September 3, 2010]. http://www​.aaas.org/spp/rd/guitotal.htm.
  2. AAP (American Academy of Pediatrics) Medical Home Initiatives for Children with Special Needs Project Advisory Committee. The medical home. Pediatrics. 2002;110(1):184–186. [PubMed: 12093969]
  3. Abernethy AP, Raman G, Balk EM, Hammond JM, Orlando LA, Wheeler JL, Lau J, McCrory DC. Systematic review: reliability of compendia methods for off-label oncology indications. Annals of Internal Medicine. 2009;150(5):336–343. [PubMed: 19221366]
  4. AbioMed, Inc. ABIOMED Announces Increased Reimbursement from CMS for Successful Recovery of the Native Heart (press release). 2005. [August 10, 2010]. http://www​.abiomed.com​/news/CMS_Reimbursement.cfm.
  5. AbioMed, Inc. Form 10-Q. 2009. [August 10, 2010]. http://www​.faqs.org/sec-filings​/091106/ABIOMED-INC_10-Q/
  6. ACP (American College of Physicians). Patient-Centered, Physician-Guided Care for the Chronically Ill: The American College of Physicians Prescription for Change. Philadelphia, PA: American College of Physicians; 2004.
  7. ACR (American College of Rheumatology). Summary of January 21 Teleconference with FDA Regarding Colchicine. 2010. [August 10, 2010]. http://www​.rheumatology​.org/advocacy/colchicine_fda.pdf.
  8. ACS (American Cancer Society). Clinical Trials: State Laws Regarding Insurance Coverage. 2010. [August 10, 2010]. http://www​.cancer.org​/docroot/ETO/content​/ETO_6_2x_State_Laws​_Regarding_Clinical_Trials.asp.
  9. Adams JU. Imprinting and genetic disease: Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes, Nature Education. 2008. [September 24, 2010]. http://www​.nature.com​/scitable/topicpage​/imprinting-and-genetic-disease-angelman-prader-willi-923.
  10. AdvaMed (Advanced Medical Technology Association. Future Trends in Medical Device Innovation. 2004. [August 10, 2010]. http://www​.advamed.org​/MemberPortal/About​/NewsRoom/MediaKits​/futuretrendsinmedicaldeviceinnovaton​.htm.
  11. AdvaMed. Statement Presented by Susan Alpert to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. November 23. 2009.
  12. Aetna. Clinical Policy Bulletin: Heart Transplantation. 2010. [August 10, 2010]. http://www​.aetna.com​/cpb/medical/data/500_599/0586.html.
  13. AIMBE (American Institute for Medical and Biological Engineering). AIMBE Hall of Fame salutes PET as one of 24 achievements in medical, biological engineering. Molecular Imaging News. 2005 March 10
  14. Aiuti A, Brigida I, Ferrua F, Cappelli B, Chiesa R, Marktel S, Roncarolo M. Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. Immunologic Research. 2009;44(1-3):150–159. [PubMed: 19224139]
  15. Alliance for a Stronger FDA. Written Statement of the Alliance for a Stronger FDA, U.S. Food and Drug Administration Regarding FY2011 Appropriations for the U.S. Food and Drug Administration Submitted to the Appropriations Subcommittee on Agriculture, Rural Development, Food and Drug Administration, and Related Agencies, U.S. Senate, March 26, 2010. 2009. [August 10, 2010]. http://fdaalliance​.files​.wordpress.com/2009​/11/alliance-statement-senate-appropriations-committee-fy-11.doc.
  16. Anand G. How drugs for rare diseases became lifeline for companies, Wall Street Journal. Nov 15, 2005. [August 10, 2010]. http://online​.wsj.com​/article/SB113202332063297223.html. [PubMed: 16502531]
  17. Anderson T. Novartis under fire for accepting new reward for old drug, Lancet. 2009. [August 24, 2010]. p. 1414. http://www​.thelancet​.com/journals/lancet​/article/PIIS0140-6736(09)60804-7​/fulltext. [PubMed: 19399998]
  18. Anglim PP, Alonzo TA, Laird-Offringa IA. DNA methylation-based biomarkers for early detection of non-small cell lung cancer: an update. Molecular Cancer. 2008;7(81) [PMC free article: PMC2585582] [PubMed: 18947422]
  19. Ariyanchira S. BioMarket trends: orphan drug arena driven by biologics, Genetic Engineering and Biotechnology News. 2008. [August 10, 2010]. http://www​.genengnews​.com/gen-articles/biomarket-trends-orphan-drug-arena-driven-by-biologics/2318/
  20. Arnon SS. Creation and development of the public service orphan drug human botulism immune globulin, Pediatrics. 2007. [August 10, 2010]. pp. 785–789. http://www​.cdph.ca.gov​/programs/ibtpp/Documents​/Peds-Creatn-Devlpmt-BIG-IV-2007​.pdf. [PubMed: 17403850]
  21. Asamoah AK, Sharfstein JM. Transparency at the Food and Drug Administration, New England Journal of Medicine. 2010. [August 20, 2010]. p. 25. http://www​.nejm.org/doi/pdf/10​.1056/NEJMp1005202. [PubMed: 20484392]
  22. Asbury CH. Orphan Drugs, Medical Versus Market Value. Lexington, MA: Lexington Books; 1985.
  23. Asbury CH. The Orphan Drug Act: the first 7 years. Journal of the American Medical Association. 1991;265(7):893–897. [PubMed: 1992188]
  24. ASH (American Society of Hematology). Toward a New Research Paradigm: Building a New Sickle Cell Disease Research Agenda. 2007. [August 10, 2010]. http://www​.hematology​.org/Advocacy/Policy-Statements/2680​.aspx.
  25. Ashlock M. Increasing the therapeutic options for individuals with rare diseases. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 23. 2010.
  26. ASHP (American Society of Health-System Pharmacists. Manufacturer PAPs. 2010. [August 10, 2010]. http://www​.ashp.org/Import​/PRACTICEANDPOLICY​/PracticeResourceCenters​/PatientAssistancePrograms​/ManufacturerPAPs.aspx.
  27. Atkins D, Siegel J, Slutsky J. Making policy when the evidence is in dispute. Health Affairs. 2005;24(1):102–113. [PubMed: 15647220]
  28. Austin CP. NIH translational research for rare diseases and orphan products: NCGC and TRND. Presentation to the IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  29. Australian Bureau of Statistics. 3105.0.65.001 Australian Historical Population Statistics. 2008. [August 10, 2010]. http://www​.abs.gov.au/AUSSTATS/abs@​.nsf/DetailsPage/3105​.0.65.0012008? OpenDocument.
  30. Aylward EH. Change in MRI striatal volumes as a biomarker in preclinical Huntington's disease. Brain Research Bulletin. 2007;72(2-3):152–158. [PubMed: 17352939]
  31. Aymé S. From ICD10 to ICD11: proposal for a general approach and incorporation of rare diseases. Presentation to the Committee for Orphan Medicinal Products (COMP); London. April 9; 2009. [August 10, 2010]. http://www​.eurordis.org​/IMG/pdf/ICD_revision​_S_Ayme_EMEA_March_09.pdf.
  32. Azuma H, Paulk N, Ranade A, Dorrell C, Al-Dhalimy M, Ellis E, Strom S, et al. Robust expansion of human hepatocytes in Fah-/-/Rag2-/-/Il2rg-/- mice, Nature Biotechnology. 2007. [August 10, 2010]. pp. 903–910. http://kaylab​.stanford​.edu/manuscripts/NBT07Azuma.pdf. [PMC free article: PMC3404624] [PubMed: 17664939]
  33. Baily MA, Murray TH. Ethics, evidence, and cost in newborn screening, Hastings Center Report. 2008. [August 10, 2010]. pp. 23–31. http://www​.thehastingscenter​.org/uploadedFiles​/Publications/HCR​/Articles/2008_May-June​/hcr_2008_may_jun_early_release1​.pdf. [PubMed: 18581934]
  34. Bainbridge JWB, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. New England Journal of Medicine. 2008;358:2231–2239. [PubMed: 18441371]
  35. Beitz J. Approval letter to Genzyme Corporation for BLA 125141/0 [Alglucosidease alfa/Myozyme]. Apr 28, 2006. [August 24, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/appletter/2006/125141s0_LTR.pdf.
  36. Beitz J. Approval letter to Orphan Europe for NDA 022562 [Carbaglu]. Mar 18, 2010. [August 19, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/appletter/2010/022562s000ltr.pdf.
  37. Bellingham MC. A review of the neural mechanisms of action and clinical efficiency of riluzole in treating amyotrophic lateral sclerosis: what have we learned in the last decade? CNS Neuroscience & Therapeutics. 2010 March 10 e-pub ahead of print. [PMC free article: PMC6493865] [PubMed: 20236142]
  38. Benderly BL. The End of Blinding Trachoma Among The World's Poor Is in Sight. 2009. [August 10, 2010]. http://www​.dcp2.org/features/75.
  39. Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Wheeler DL. GenBank. Nucleic Acids Research. 2008;36(Database issue):D25–30. [PMC free article: PMC2238942] [PubMed: 18073190]
  40. Berger E. Medicare's Inpatient New Technology Add-on: The Trials of InfraReDx, the Triumph of Spiration. 2009. [August 10, 2010]. http:​//larchmontstrategic​.blogspot.com/2009​/08/medicares-inpatient-new-technology-add.html.
  41. Bernad DM. Humanitarian use device and humanitarian device exemption regulatory programs: pros and cons. Expert Reviews. 2009;6(2):137–145. [PubMed: 19298161]
  42. Berry DA. A guide to drug discovery: Bayesian clinical trials. Nature Reviews. 2006;5:27–36. [PubMed: 16485344]
  43. Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF. Molecular characterization of a case of atransferrinemia. Blood. 2000;96(13):4071–4074. [PubMed: 11110675]
  44. Bonabeau E, Bodick N, Armstrong RW. A more rational approach to new product development, Harvard Business Review. Mar, 2008. [August 10, 2010]. http://people​.icoserver​.com/users/eric/hbr_NPD.pdf. [PubMed: 18411967]
  45. Boodman SG. Annoying bug turned out to be much more, Washington Post. Nov 3, 2009. [August 10, 2010]. http://www​.washingtonpost​.com/wp-dyn/content​/article/2009/11/02/AR2009110202432​.html.
  46. Booz Allen Hamilton Inc. Independent Evaluation of FDA's First Cycle Review Performance: Final Report. 2008. [August 10, 2010]. http://www​.fda.gov/downloads​/ForIndustry​/UserFees/PrescriptionDrugUserFee​/ucm127982.pdf.
  47. Brancati F, Sarkozy A, Dallapiccola B. KBG syndrome, OJRD (Orphanet Journal of Rare Diseases). 2006. [August 10, 2010]. http://www​.ojrd.com/content/1/1/50. [PMC free article: PMC1764006] [PubMed: 17163996]
  48. Braunschweig F. Therapeutic and diagnostic role of electrical devices in acute heart failure. Heart Failure Reviews. 2007;12(2):157–166. [PubMed: 17447136]
  49. Brodsky RA. How I treat paroxysmal nocturnal hemoglobinuria. Blood. 2009;113(26):6522–6527. [PMC free article: PMC2710914] [PubMed: 19372253]
  50. Brooks AD, Wells WA, McLean TD, Khanna R, Coghlan R, Mertenskoetter T, Privor-Dumm LA, et al. Ensuring that developing countries have access to new healthcare products: the role of product development partnerships, Innovation Strategy Today. 2010. [August 23, 2010]. pp. 1–5. http://www​.ipmglobal​.org/pdfs/english/ipm_publications​/2010/PDPAccess-InnovationStratToday-Jan2010​.pdf.
  51. Budd TM, Liebman KA. Annual Review of Medical Device Patent Litigation. 2009. [August 10, 2010]. http://www​.faegre.com/showarticle​.aspx?Show=9611.
  52. Butcher L. When should insurers cover off-label drug usage? Managed Care. May, 2009. [August 10, 2010]. http://www​.managedcaremag​.com/archives/0905/0905​.offlabel.html. [PubMed: 19526933]
  53. Campbell A. Appendix B: State regulation of medical research with children and adolescents: an overview and analysis, Ethical Conduct of Clinical Research Involving Children. Washington, DC: The National Academies Press; 2004. pp. 320–383. [PubMed: 20669469]
  54. Campbell EG, Clarridge BR, Gokhale M, Birenbaum L, Hilgartner S, Holtzman NA, Blumenthal D. Data withholding in academic genetics: evidence from a national survey. Journal of the American Medical Association. 2002;287(4):473–480. [PubMed: 11798369]
  55. Campbell G. Statistics in medical devices and diagnostics. Presentation at the AdvaMed-FDA Statistics Workshop; Bethesda, MD. April 16; 2008. [August 10, 2010]. http://www​.amstat.org​/sections/sigmedd/Advamed​/Advamed08/presentation​/GCampbell_Advamed-FDA​_Statistics_4-08.pdf.
  56. Campbell G. Bayesian statistics at the FDA: The trailblazing experience with medical devices. Presentation at Rutgers Biostatistics Day; New Brunswick, NJ. April 9; 2009. [August 9, 2010]. http://www​.stat.rutgers​.edu/iob/bioconf09/slides/Campbell​.pdf.
  57. Campbell RM. Ensuring safe medicines and medical devices for children. Testimony before the Committee on Health, Education, Labor and Pensions; U.S. Senate, Washington, DC. March 27; 2007. [August 27, 2010]. http://www​.aap.org/advocacy​/washing/therapeutics​/docs/campbell.pdf.
  58. Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. Molecular Genetics and Metabolism. 2008;95(1-2):11–16. [PubMed: 18701331]
  59. Cannom DS, Prystowsky EN. The evolution of the implantable cardioverter defibrillator. Pacing and Clinical Electrophysiology. 2004;27(3):419–421. [PubMed: 15009880]
  60. Carmichael M. Would regulation kill genetic testing? Newsweek. Jun 4, 2010. [September 1, 2010]. http://wwwnewsweek​.com​/2010/06/04/would-regulation-kill-genetic-testing.html.
  61. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, Vidaud M, et al. Lentiviral-mediated gene therapy of hematopoietic stem cells delays disease progression in patients with a fatal brain disorder. Science. 2009;326(5954):818–823. [PubMed: 19892975]
  62. Carver KHC. Companion diagnostics: evolving FDA regulation and issues for resolution, In Vitro Diagnostics: The Complete Regulatory Guide. Danzis SD, Flannery EJ, editors. Washington, DC: The Food and Drug Law Institute; 2010.
  63. Cassidy A. Coverage and Payment for Prescription Drugs Under Medicare Part B: A Complex Patchwork, National Health Policy Forum Background Paper. 2009. [August 9, 2010]. http://www​.nhpf.org/library/details​.cfm/2755.
  64. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. European Journal of Human Genetics. 2009;17:3–13. [PMC free article: PMC2985966] [PubMed: 18781185]
  65. Caves RE, Whinston MD, Hurwitz MA. Patent expiration, entry, and competition in the U.S. pharmaceutical industry. Brookings Papers on Economic Activity. Microeconomics. 1991;1991:1–48.
  66. CBTRUS (Central Brain Tumor Registry of the United States). CBTRUS Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2004-2006. 2010. [August 9, 2010]. http://www​.cbtrus.org​/2007-2008/2007-20081.html.
  67. CDC (Centers for Disease Control and Prevention). Marine Toxins. 2005. [August 9, 2010]. http://www​.cdc.gov/ncidod​/dbmd/diseaseinfo/marinetoxins_g​.htm.
  68. CDC. Hemochromatosis for Health Care Professionals: Epidemiology: Prevalence. 2007. [August 9, 2010]. http://www​.cdc.gov/ncbddd​/hemochromatosis​/training/epidemiology/prevalence.htm.
  69. CDC. Malaria surveillance—United States, 2005, Morbidity and Mortality Weekly Reports. 2007. [December 1, 2010]. pp. 23–38. http://www​.cdc.gov/mmwr​/preview/mmwrhtml/ss5606a2.htm.
  70. CDC. Dengue Epidemiology. 2009. [August 9, 2010]. http://www​.cdc.gov/dengue​/epidemiology/index.html.
  71. CDC. Fiscal Year 2009: Justification of Estimates for Appropriation Committees. 2009. [August 9, 2010]. http://www​.cdc.gov/fmo​/PDFs/FY09_CDC_CJ_Final.pdf.
  72. CDC. HIV/AIDS Surveillance Report: Cases of HIV Infection and AIDS in the United States and Dependent Areas, 2007. 2009. [August 9, 2010]. http://www​.cdc.gov/hiv​/topics/surveillance/basic.htm#hivest.
  73. CDC. Newborn Screening Translation Research Initiative. 2009. [August 9, 2010]. http://www​.cdcfoundation​.org/programs/lifestyles/index​.aspx#newborn.
  74. CDER (Center for Drug Evaluation and Research, Food and Drug Administration. The CDER Handbook. 1998. [August 9, 2010]. http://www​.fda.gov/downloads​/AboutFDA/CentersOffces​/CDER/UCM198415.pdf.
  75. CDER. Guidance for Industry: Carcinogenicity Study Protocol Submissions. 2002. [August 9, 2010]. http://www​.fda.gov/downloads​/drugs/guidancecomplianceregulatoryinformation​/guidances/ucm078924.pdf.
  76. CDER. Guidance for Industry: Bioavailability and Bioequivalence Studies for Orally Administered Drug Products-General Considerations. 2003. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm070124.pdf.
  77. CDER. Guidance for Industry, Investigators, and Reviewers: Exploratory IND Studies. 2006. [August 9, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm078933.pdf.
  78. CDER. Guidance for Industry: Chronic Obstructive Pulmonary Disease: Developing Drugs for Treatment. 2007. [August 9, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm071575.pdf.
  79. CDER. CDER Medical Policy Coordinating Committee, Manual of Policies and Procedures. Nov 2, 2009. [August 20, 2010]. http://www​.fda.gov/downloads​/AboutFDA/CentersOffices​/CDER/ManualofPoliciesProcedures/UCM188694.pdf.
  80. CDER-CBER (Center for Biologics Evaluation and Research). Guidance for Industry: E6 Good Clinical Practice: Consolidated Guidance. 1996. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm073122.pdf.
  81. CDER-CBER. Guidance for Industry: S6 Preclinical Evaluation of Biotechnology-Derived Pharmaceuticals. 1997. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm074957.pdf.
  82. CDER-CBER. Guidance for Industry: Providing Clinical Evidence of Effectiveness for Human Drug and Biological Products. 1998. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm078749.pdf.
  83. CDER-CBER. Guidance for Industry: Information Program on Clinical Trials for Serious or Life-Threatening Diseases and Conditions. 2002. [August 24, 2010]. http://www​.fda.gov/downloads​/RegulatoryInformation​/Guidances/ucm126838.pdf.
  84. CDER-CBER. Guidance for Industry: Special Protocol Assistance. 2002. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm080571.pdf.
  85. CDER-CBER. Guidance for Industry Format and Content of Proposed Risk Evaluation and Mitigation Strategies (REMS), REMS Assessments, and Proposed REMS Modifications. 2009. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/UCM184128.pdf.
  86. CDER-CBER. Guidance for Industry: Adaptive Design Clinical Trials for Drugs and Biologics (Draft). 2010. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/UCM201790.pdf.
  87. CDER-CBER. Guidance for Industry: Non-Inferiority Clinical Trials. 2010. [August 24, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/UCM202140.pdf.
  88. CDMRP (Congressionally Directed Medical Research Programs, Department of Defense). FY 2008 Annual Report: Contents. 2008. [August 24, 2010]. http://cdmrp​.army.mil​/pubs/annreports/2008annrep/default​.shtml.
  89. CDRH (Center for Devices and Radiological Health, Food and Drug Administration). Humanitarian Use Device: Overview. 2009. [August 9, 2010]. http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/HowtoMarketYourDevice/PremarketSubmissions/Humanitari anDeviceExemption/default.htm.
  90. CDRH. CDRH Preliminary Internal Evaluations—Volume 1. Aug, 2010. [September 3, 2010]. http://www​.fda.gov/downloads​/AboutFDA/CentersOffices​/CDRH/CDRHReports/UCM220784​.pdf.
  91. CDRH. Office of Device Evaluation. 2010. [August 9, 2010]. http://www​.fda.gov/AboutFDA​/CentersOffices​/CDRH/CDRHOffices/ucm115879.htm#3.
  92. CDRH-CBER. Draft Guidance for Industry, Clinical Laboratories, and FDA Staff In Vitro Diagnostic Multivariate Index Assays. 2007. [August 24, 2010]. http://www​.fda.gov/downloads​/MedicalDevices​/DeviceRegulationandGuidance​/GuidanceDocuments/ucm071455​.pdf.
  93. CDRH-CBER. Guidance for HDE Holders, Institutional Review Boards (IRBs), Clinical Investigators, and FDA Staff—Humanitarian Device Exemption (HDE) Regulation: Questions and Answers. 2010. [August 24, 2010]. http://www​.fda.gov/MedicalDevices​/DeviceRegulationandGuidance​/GuidanceDocuments/ucm110194.htm.
  94. CDRH-OSB (Office of Surveillance and Biometrics). Guidance for the Use of Bayesian Statistics in Medical Device Clinical Trials. 2010. [August 24, 2010]. http://www​.fda.gov/downloads​/MedicalDevices​/DeviceRegulationandGuidance​/GuidanceDocuments/ucm071121​.pdf.
  95. Celgene. Thalomid®: System for Thalomide Education and Prescribing Safety. 2010. [August 9, 2010]. http://www​.thalomid.com/steps_program​.aspx.
  96. CFF (Cystic Fibrosis Foundation). Research Milestones. 2008. [August 9, 2010]. http://www​.cff.org/research​/ResearchMilestones/
  97. CFF. Cystic Fibrosis Foundation Patient Registry 2008 Annual Data Report. 2009. [August 9, 2010]. http://www​.cff.org/UploadedFiles​/research​/ClinicalResearch/2008-Patient-Registry-Report.pdf.
  98. CFF. CF Basic Research Centers. [August 9, 2010]. Undated a. http://www​.cff.org/aboutCFFoundation​/Locations​/ResearchCenters/
  99. CFF. CF Foundation-Accredited Care Centers. [August 9, 2010]. Undated b. http://www​.cff.org/treatments​/CareCenterNetwork​/CFFoundation-accreditedCareCenters/
  100. CFSAN (Center for Food Safety and Nutrition), Food and Drug Administration. Guidance for Industry: Frequently Asked Questions About Medical Foods. College Park, MD: FDA; 2007. [August 9, 2010]. http://www​.fda.gov/Food​/GuidanceComplianceRegulatoryInformation​/GuidanceDocuments​/MedicalFoods/UCM054048#q1.
  101. Chamberlain JR, Schwarze U, Wang P, Hirata RK, Hankenson KD, Pace JM, Underwood RA, et al. Gene targeting in stem cells from individuals with osteogenesis imperfecta, Science. 2004. [August 23, 2010]. p. 1198. http://www​.sciencemag​.org/cgi/reprint/303/5661/1198.pdf. [PubMed: 14976317]
  102. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. Journal of Allergy and Clinical Immunology. 2005;115:391–398. [PubMed: 15696101]
  103. Chong CR, Sullivan DJ Jr. New uses for old drugs. Nature. 2007 August 8;448:645–646. [PubMed: 17687303]
  104. Choudhry NK, Lee JL, Agnew-Blais J, Corcoran C, Shrank WH. Drug company-sponsored patient assistance programs: A Viable Safety Net? Health Affairs. 2009;28(3):827–834. [PMC free article: PMC2873618] [PubMed: 19414893]
  105. Citron P. Medical device considerations. Presentation to IOM Committee on Conflict of Interest in Medical Research, Education, and Practice; Washington, DC. January 21. 2008.
  106. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009. [August 9, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=diamond-b.
  107. Clyde AT, Bockstedt L, Farkas JA, Jackson C. Experience with Medicare's new technology add-on payment program. Health Affairs. 2008;27(6):1632–1641. [PubMed: 18997222]
  108. CMS (Centers for Medicare and Medicaid Services). Clinical Trials. 2000. [August 9, 2010]. http://www​.cms.gov/manuals​/downloads/Pub06_PART_35.pdf.
  109. CMS. Guidance for the Public, Industry, and CMS Staff—National Coverage Determinations with Data Collection as a Condition of Coverage: Coverage with Evidence Development. Jul, 2006. [August 9, 2010]. https://www​.cms.gov/mcd​/ncpc_view_document.asp?id=8.
  110. CMS. CMS Manual System. 2007. [August 9, 2010]. http://www​.cms.gov/Transmittals​/Downloads/R74NCD.pdf.
  111. CMS. 2010 Combined Call Letter. Prescription Drug Coverage Contracting. March 30. 2009. [August 19, 2010]. http://www​.cms.gov/PrescriptionDrugCovContra​/Downloads/2010CallLetter.pdf.
  112. CMS. Medicaid Drug Rebate Program: Overview. 2009. [August 9, 2010]. http://www​.cms.gov/MedicaidDrugRebateProgram/
  113. CMS. Medicare program; proposed changes to the hospital inpatient prospective payment systems for acute care hospitals and fiscal year 2010 rates and to the long-term care hospital prospective payment system and rate year 2010 Rates; proposed rule, Federal Register. 2009. [August 9, 2010]. pp. 24080–24686. http://edocket​.access​.gpo.gov/2009/pdf/E9-10458.pdf. [PubMed: 19827228]
  114. CMS. Medicare Enrollment: National Trends 1966-2008. 2009. [August 9, 2010]. http://www​.cms.gov/MedicareEnRpts​/Downloads/HISMI08.pdf.
  115. CMS. Medicare & You 2010. 2010. [August 9, 2010]. http://www​.medicare.gov​/publications/pubs/pdf/10050.pdf.
  116. Cohen WM, Walsh JP. Real impediments to biomedical research, Innovation Policy and the Economy. Jaffe AB, Lerner J, Stern S, editors. Chicago, IL: University of Chicago Press; 2008. pp. 1–30.
  117. Cohn RD, van Erp C, Habasi JP, Soleimani AA, Klein EC, Lisi MT, Gamradt M, et al. Angiotensin II type 1 receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states. Nature Medicine. 2007;13:204–210. E-pub January 21. [PMC free article: PMC3138130] [PubMed: 17237794]
  118. Collins FS. Implementing personalized medicine: scientific and translational challenges. Presentation to AAAS Personalized Medicine: Planning for the Future Colloquium; Washington, DC. October 26; 2009. [August 9, 2010]. http://www​.aaas.org/spp/PM/ppts/Collins​.pdf.
  119. Collins KL. Profitable gifts: a history of the Merck Mectizan donation program and its implications for international health. Perspectives in Biology and Medicine. 2004;47(1):100–109. [PubMed: 15061171]
  120. Cook-Deegan R. Crowley Mary., editor. Gene patents, From Birth to Death and Bench to Clinic: The Hastings Center Bioethics Briefing Book for Journalists, Policymakers, and Campaigns. Garrison, NY: The Hastings Center; 2008. [August 9, 2010]. pp. 69–72. http://www​.thehastingscenter​.org/uploadedFiles​/Publications/Briefing_Book​/gene%20patents%20chapter​.pdf.
  121. Coombs A. Rare nature of mushroom poisoning means drug trials rarer still. Nature Medicine. 2009;15(3) [PubMed: 19265807]
  122. Cornetta K, Carter B. Letter on Behalf of the American Society of Gene & Cell Therapy to Francis Collins, Director, NIH March 10. 2010. [September 24, 2010]. http://www​.asgct.org​/UserFiles/file/Francis​%20Collins%20Letter.pdf.
  123. Corr P. New business models addressing global health: a framework for private equity. Presentation at IOM Forum on Drug Discovery, Development, and Translation Workshop on Breakthrough Business Models; Washington, DC. June 23. 2008.
  124. Cortazar P. Clinical review for NDA 22042 [Evista / Raloxifene Hydrochloride], CDER Medical Review Part 1 Application Number: 22042. Sep 6, 2007. [August 19, 2010]. p. 16. http://www​.accessdata​.fda.gov/drugsatfda_docs​/nda/2007/022042s000_MedR_P1.pdf.
  125. Coté T. The state of the Orphan Drug Act. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. Aug 12, 2009.
  126. Coté T. Orphans at FDA: the fundamentals. Presentation at the American Course on Drug Development and Regulatory Sciences; San Francisco, CA. February 23. 2010.
  127. C-Path (Critical Path Institute). FDA and EMEA Conclude That New Renal Safety Biomarkers Are Qualified for Specific Regulatory Purposes. 2008. [August 9, 2010]. http://www​.c-path.org​/pdf/PSTC_nephro_VXDS_summary_final.pdf.
  128. C-Path. Coalition Against Major Disease: Workscope 1.1. 2009. [August 9, 2010]. http://www​.c-path.org/pdf/CAMDWorkScope​.pdf.
  129. C-Path. The Predictive Safety Testing Consortium. 2009. [August 9, 2010]. http://www​.c-path.org​/pdf/PSTC_GeneralInfo_08-28-09.pdf.
  130. CPI (Critical Path Initiative). The Critical Path Initiative: Report on Key Achievements in 2009. 2010. [September 24, 2010]. http://www​.fda.gov/downloads​/ScienceResearch​/SpecialTopics/CriticalPathInitiative/UCM221651.pdf.
  131. CTF (Children's Tumor Foundation). 2008 Annual Report. 2009. [August 9, 2010]. http://www​.ctf.org/images​/stories/2008_annual_report_final​.pdf.
  132. CTSA (Clinical and Translational Science Awards, NIH). Evaluation—IRB Issues in Evaluation. 2010. [August 10, 2010]. http://www​.ctsaweb.org/index​.cfm?fuseaction=committee​.viewCommittee&com​_ID=461&abbr=
  133. CTXinfo.org (Cerebrotendinous xanthomatosis). Latest News: February 28. 2010. [August 9, 2010]. http://www​.ctxinfo.org/index.html.
  134. Dale DC, Link DC. The many causes of severe congenital neutropenia. New England Journal of Medicine. 2009;360(1):3–5. [PMC free article: PMC4162527] [PubMed: 19118300]
  135. D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. New England Journal of Medicine. 2010;362:1909–1919. [PMC free article: PMC3069698] [PubMed: 20484397]
  136. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurology. 2004;3(11):673–678. [PubMed: 15488460]
  137. Delude C. Tangier disease: one island's treasure, Proto Magazine. Fall. 2009. [August 9, 2010]. pp. 16–21. http://protomag​.com/statics/tangiers.pdf.
  138. Derbis J, Evelyn B, McMeekin J. FDA initiative aims to remove unapproved drugs from market. Pharmacy Today. 2008 August:21–22.
  139. de Siqueira IC, Dias J, Ruf H, Ramos EAG, Pires Maciel EA, Rolim A, Jabur L, et al. Chromobacterium violaceum in siblings, Brazil, Emerging Infectious Diseases. 2005. [August 9, 2010]. http://www​.cdc.gov/ncidod​/EId/vol11no09/pdfs/05-0278.pdf. [PMC free article: PMC3310629] [PubMed: 16229777]
  140. Dhruva SS, Bero LA, Redberg RF. Strength of study evidence examined by the FDA in premarket approval of cardiovascular devices. Journal of the American Medical Association. 2009;302(24):2679–2685. [PubMed: 20040556]
  141. Dietz HC. Marfan Syndrome. 2009. [August 9, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=marfan.
  142. Dietz HC. New therapeutic approaches for Mendelian disorders, New England Journal of Medicine. 2010. [September 1, 2010]. pp. 852–863. http://www​.nejm.org/doi/full/10​.1056/NEJMra0907180?query=TOC. [PubMed: 20818846]
  143. DiMasi JA, Hansen RW, Grabowski HG. The price of innovation: new estimates of drug development costs. Journal of Health Economics. 2003;22(2003):151–185. [PubMed: 12606142]
  144. DiMasi JA, Feldman L, Seckler A, Wilson A. Trends in risks associated with new drug development: success rates for investigational drugs. Clinical Pharmacology & Therapeutics. 2010;87:272–277. [PubMed: 20130567]
  145. Dimond PF. Big PhRMA adopting orphan drug strategy, Genetic Engineering & Biotechnology News. 2009. [August 9, 2010]. http://www​.genengnews​.com/analysis-and-insight​/big-pharma-adopting-orphan-drug-strategy​/71053206/(accessed.
  146. DNDi (Drugs for Neglected Diseases Initiative). Pfizer and DNDi Advancing International Research Efforts in the Fight Against Neglected Tropical Diseases. 2009. [August 9, 2010]. (press release). http://www​.dndi.org/press-releases​/2009/565-pfizer-and-dndi-advancing-international-research-efforts-in-the-fight-against-neglected-tropical-diseases.html.
  147. DOJ (Department of Justice). Stryker Biotech and Its Top Management Indicted for Illegal Promotion of Medical Devices Used in Invasive Surgeries. Oct 28, 2009. [August 24, 2010]. (press release) http://www​.fda.gov/downloads​/NewsEvents/Newsroom​/PressAnnouncements/UCM188306​.pdf.
  148. Dorman D. Testimony submitted by the National Organization for Rare Disorders before the Social Security Administration Public Hearing on Compassionate Allowances; Washington, DC. December 4. 2007.
  149. Dorman D. Statement of Diane Dorman, Vice President for Public Policy National Organization for Rare Disorders (NORD), to FDA Infectious Diseases Planning Committee; Washington, DC. April 28; 2008. [August 9, 2010]. http://www​.rarediseases​.org/pdf/FDA_Infectious​_Diseases_Planning_Com_4-22-08.pdf.
  150. Dorsey ER, de Roulet J, Thompson JP, Reminick JI, Thai A, White-Stellato Z, Beck CA, et al. Funding of US biomedical research, 2003-2008. Journal of the American Medical Association. 2010;303(2):137–143. [PMC free article: PMC3118092] [PubMed: 20068207]
  151. Douglas J. Update: Shire plans to undercut Cerezyme as profit rises, Dow Jones Newswires. Feb 19, 2010. [August 9, 2010]. http://www​.nasdaq.com​/aspx/companynewsStoryPrint​.aspx?storyid​=201002190850dowjonesdjonline000444.
  152. Doulton DM. From cradle to commencement: transitioning pediatric sickle cell disease patients to adult providers. Journal of Pediatric Oncology Nursing. 2010;27(2):119–123. [PubMed: 19897836]
  153. Dreifus C. Researcher behind the drug Gleevec: a conversation with Brian Druker. New York Times; Nov 2, 2009. [August 9, 2010]. http://www​.nytimes.com​/2009/11/03/science/03conv.html.
  154. Dudley JT, Tibshirani R, Deshpande T, Butte AJ. Disease signatures are robust across tissues and experiments, Molecular Systems Biology. 2009. [August 9, 2010]. p. 307. http://www​.ncbi.nlm.nih​.gov/pmc/articles​/PMC2758720/pdf/msb200966.pdf. [PMC free article: PMC2758720] [PubMed: 19756046]
  155. Duffner PK, Caviness VS, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C. Genetics in Medicine. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop; July 11 and 12, 2008; Holiday Valley, New York. 2009. pp. 450–454. held on. [PubMed: 19346954]
  156. Duggan M. The effect of Medicare Part D on pharmaceutical prices and utilization. American Economic Review. 2010;100(1):590–600. [PubMed: 29508975]
  157. Duggan M, Morton FMS. The distortionary effects of government procurement: evidence from Medicaid prescription drug purchasing. Quarterly Journal of Economics. 2006;121(1):1–30.
  158. Duncan DE. Enlisting computers to unravel the true complexity of disease, New York Times. Aug 24, 2009. [August 9, 2010]. http://www​.nytimes.com​/2009/08/25/science/25prof.html.
  159. Duncan MW, W Hunsucker S. Proteomics as a tool for clinically relevant biomarker discovery and validation. Experimental Biology and Medicine. 2005;230(11):808–817. [PubMed: 16339745]
  160. Dykxhoorn DM, Lieberman J. Knocking down disease with siRNAs. Cell. 2006;126(2):231–235. [PMC free article: PMC7125751] [PubMed: 16873051]
  161. Eastman P. Reimbursement policies discourage off-label drug use. Oncology Times. 2005;27(20):8–10.
  162. El-Khatib FH, Russell SJ, Nathan DM, Sutherlin RG, Damiano ER. A bihormonal closed-loop artificial pancreas for type 1 diabetes. Science Translational Medicine. 2010;2(27):27ra27. [PMC free article: PMC4242106] [PubMed: 20393188]
  163. EMEA (European Medicines Agency). Annual Report, 2007. London: 2008. [December 1, 2010]. http://www​.ema.europa​.eu/docs/en_GB/document_library​/Annual_report​/2009/12/WC500016591.pdf.
  164. Entrepreneur Newsletter. NMT medical voluntarily withdraws Cardioseal PFO HDE (Biotech Equipment Update, October 1). 2006. [August 9, 2010]. http://www​.entrepreneur​.com/tradejournals/article/151492685​.html.
  165. EPI (Economic Policy Institute). Employer-Sponsored Health Insurance Erosion Continues: Unabated Declines in Coverage Since 2000 Are Expected to Worsen Through 2009. 2009. [August 9, 2010]. http://epi​.3cdn.net/6356d48ae59f625af6​_xxm6bnyn2.pdf.
  166. Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006;118(3):e879–e889. [PubMed: 16923928]
  167. Eurodis. Rare diseases in numbers. European Conference on Rare Diseases; Luxembourg. June 21-22; 2005. [August 6, 2010]. http://ec​.europa.eu/health​/ph_threats/non_com​/ev_20050622_co01_en.pdf.
  168. European Commission, Health & Consumer Protection Directorate-General. Public Consultation, Rare Diseases: Europe's Challenges. 2007. [August 6, 2010]. http://ec​.europa.eu/health​/ph_threats/non_com​/docs/raredis_comm_draft.pdf.
  169. European Union. Regulation (EC) No 141/2000. 1999. [August 6, 2010]. http://eur-lex​.europa​.eu/LexUriServ/LexUriServ​.do?uri=OJ:L:2000​:018:0001:0005:EN:PDF.
  170. Faik I, de Carvalho E, Kun J. Parasite-host interaction in malaria: genetic clues and copy number variation. Genome Medicine. 2009;1(9):82. [PMC free article: PMC2768989] [PubMed: 19725943]
  171. Fanelli D. Do pressures to publish increase scientists' bias? An empirical support from US states data, PLoS ONE. 2010. [August 3, 2010]. p. e10271. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0010271;jsessionid=EB8BEAAC2BD41631E15776993436 B1B4.ambra01. [PMC free article: PMC2858206] [PubMed: 20422014]
  172. Farag-El-Massah S, Braun MM, Cloyd J, Schondelmeyer S, Xu K, Thomas M, Lewis D, Coté TR. Quantitative description of FDA designated and approved orphan drugs and biologics. Poster presentation at annual meeting of the Drug Information Association; San Diego, CA. June 22. 2009.
  173. Farmer J. Accelerating rare diseases research and orphan product development: a FARA [Friedreich's Ataxia Research Alliance] perspective. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. November 23. 2009.
  174. Farrell E, Usuka J. Pharmacogenomics and drug development: the impact of U.S. FDA postapproval tracking on clinical pharmacology. Personalized Medicine. 2008;5(2):133–139. [PubMed: 29783343]
  175. Faurisson F. EurordisCare2: Survey of Diagnostic Delays, 8 Diseases, Europe. 2004. [August 6 2010]. http://archive​.eurordis​.org/imprimer.php3?id_article=454.
  176. FDA (Food and Drug Administration). Guideline for Industry: The Need for Long-Term Rodent Carcinogenicity Studies of Pharmaceuticals. 1996. [August 6, 2010]. http://www​.fda.gov/downloads​/Drugs/GuidanceComplianceRegulatoryInformation​/Guidances/ucm074911.pdf.
  177. FDA. Challenge and Opportunity on the Critical Path to New Medical Products. 2004. [September 24, 2010]. http://www​.fda.gov/downloads​/ScienceResearch​/SpecialTopics/CriticalPathInitiative​/CriticalPathOpportunitiesReports​/ucm113411.pdf.
  178. FDA. Orphan Products: Hope for People with Rare Diseases. 2009. [August 6, 2010]. http://www​.fda.gov/Drugs​/ResourcesForYou​/Consumers/ucm143563.htm. [PubMed: 14986582]
  179. FDA. The Critical Path Initiative: Report on Key Achievements in 2009. 2009. [August 9, 2010]. http://www.fda.gov/downloads/ScienceResearch/SpecialTopics/CriticalPathInitiative/CriticalPath OpportunitiesReports/UCM219432.pdf.
  180. FDA. FDA Drug Safety Communication: Risk of Progressive Multifocal Leukoencephalopathy (PML) with the Use of Tysabri (Natalizumab). 2010. [August 6, 2010]. http://www​.fda.gov/Drugs​/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders​/ucm199872.htm.
  181. FDA. FDA Transparency Initiative: Draft Proposals for Public Comment Regarding Disclosure Policies of the U.S. Food And Drug Administration. 2010. [August 6, 2010]. http://www​.fda.gov/downloads​/AboutFDA/WhatWeDo​/FDATransparencyTaskForce​/TransparencyReport​/GlossaryofAcronymsandAbbreviations/UCM212110.pdf.
  182. FDA. FY 2011 Food and Drug Administration Congressional Justification. 2010. [August 6, 2010]. http://www​.fda.gov/AboutFDA​/ReportsManualsForms​/Reports/BudgetReports/ucm202301​.htm.
  183. FDA. FY 2008 Performance Report to the President and the Congress for the Prescription Drug User Fee Act. [August 6, 2010]. Undated. http://www​.fda.gov/AboutFDA​/ReportsManualsForms​/Reports/UserFeeReports​/PerformanceReports​/PDUFA/ucm209305.htm.
  184. FDA Science Board. FDA Science and Mission at Risk: Report of the Subcommittee on Science and Technology. 2007. [August 6, 2010]. http://www​.fda.gov/ohrms​/DOCKETS/ac/07/briefing​/2007-4329b_02_01_FDA​%20Report%20on​%20Science%20and%20Technology.pdf.
  185. Feigal D. CDRH vision—total product lifecycle (slide). 2002. [August 6, 2010]. http://www​.fda.gov/ohrms​/dockets/ac/01/slides​/3799s1_11_Feigal/sld002.htm.
  186. Feigal DW, Gardner SN, McClellan M. Ensuring safe and effective medical devices. New England Journal of Medicine. 2003;348(3):191–192. [PubMed: 12529457]
  187. Feinberg AP, Williams BR. Wilms' tumor as a model for cancer biology. Methods in Molecular Biology. 2003;222:239–248. [PubMed: 12710691]
  188. Filipovich AH, Johnson J, Zhang K. WAS-Related Disorders. 2007. [September 7, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=was.
  189. Fischer A, Borensztein P, Roussel C. The European Rare Diseases Therapeutic Initiative, PLoS Medicine. 2005. [August 6, 2010]. p. e243. http://www​.plosmedicine​.org/article/info%3Adoi%2F10​.1371%2Fjournal.pmed.0020243. [PMC free article: PMC1188253] [PubMed: 16104832]
  190. Fisher WO. Key disclosure issues for life sciences companies: FDA product approval, clinical test results, and government inspections. Michigan Telecommunications and Technology Law Review. 2002;8(115):115–193.
  191. Flannery EJ, Hutt PB. Balancing competition and patent protection in the drug industry: The Drug Price Competition and Patent Term Restoration Act of 1984. Food Drug Cosmetic Law Journal. 1985;40:269–309.
  192. FNIH (Foundation for the National Institutes of Health). How We Work. 2010. [August 20, 2010]. http://wwwfnih​.org/about/how-we-work.
  193. Forrest CB, Groft SC, Bartek RJ, Rubinstein Y. The case for a global rare diseases registry. Lancet. 2010 published online August 2. [PubMed: 20674966]
  194. Fox M. New collaboration aims to speed TB drugs to market. Reuters. 2010 March 18
  195. Frakt AB, Pizer SD. Beneficiary price sensitivity in the Medicare prescription drug plan market. Health Economics. 2009;19(1):88–100. [PubMed: 19191252]
  196. Frank RG. The ongoing regulation of generic drugs. New England Journal of Medicine. 2007;357(20):1993–1996. [PubMed: 18003956]
  197. Frank RG, Newhouse JP. Should drug prices be negotiated under part D of Medicare? and if so, how? Health Affairs. 2008;27(1):33–43. [PubMed: 18180478]
  198. Frank RG, Salkever DS. Generic entry and the pricing of pharmaceuticals. Journal of Economics and Management Strategy. 1997;6(1):75–90.
  199. Frohnmayer D, Frohnmayer L. Fanconi Anemia Research Fund. Presentation (by phone) to the IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. November 23. 2009.
  200. Fugh-Berman A, Melnick D. Off-label promotion, on-target sales, Public Library of Science Medicine. 2008. [August 6, 2010]. p. e210. http://www​.plosmedicine​.org/article/info%3Adoi%2F10​.1371%2Fjournal.pmed.0020243. [PMC free article: PMC2573913] [PubMed: 18959472]
  201. GAO (Government Accountability Office). New Drug Approval: FDA Needs to Enhance Its Oversight of Drugs Approved on the Basis of Surrogate Endpoints. 2009. [August 6, 2010]. GAO-09-866. http://www​.gao.gov/new.items/d09866.pdf.
  202. GAO. Protecting public health through enhanced oversight of medical products, High Risk Series: An Update. Washington, DC: 2009. pp. 15–21. Report No. GAO 09-271.
  203. GAO. Direct-to-Consumer Genetic Tests; Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices: Testimony before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce, House of Representatives, July 22. 2010. [September 1, 2010]. http://www​.gao.gov/new.items/d10847t.pdf.
  204. GAO. Medicare Part D: Spending, Beneficiary Cost Sharing, and Cost-Containment Efforts for High-Cost Drugs Eligible for a Specialty Tier. 2010. [August 6, 2010]. http://www​.gao.gov/new.items/d10242.pdf.
  205. Garnett C. New undiagnosed diseases program awash in potential patients, NIH Record LXII(1). 2010. [August 28, 2010]. http://nihrecord​.od.nih​.gov/newsletters/2010​/01_08_2010/story2.htm.
  206. Gartner LM, Greer FR. Prevention of rickets and vitamin D deficiency: new guidelines for vitamin D intake. Pediatrics. 2003;111(4):908–910. [PubMed: 12671133]
  207. Gassman O, Reepmeyer G, Zedtwitz Mv. Leading Pharmaceutical Innovation: Trends and Drivers for Growth in the Pharmaceutical Industry. 2nd. New York: Springer; 2008.
  208. Gelijns AC, Killelea B, Vitale M, Mankad V, Moskowitz A. Appendix C: The dynamics of pediatric device innovation: putting evidence in context, Safe Medical Devices for Children. Washington, DC: The National Academies Press; 2006. pp. 302–326.
  209. Genentech. Herceptin Development Timeline. 2010. [August 5, 2010]. http://www​.gene.com/gene​/products/information​/oncology/herceptin/timeline.html.
  210. Genetic Alliance. Genetic Alliance Biobank Executive Summary. 2010. [August 5, 2010]. http://www​.biobank.org/english/view​.asp?x=1364&id=76.
  211. Genomeweb.com. CMS approves Iverson clinical study of genetic testing for Warfarin, Genomeweb Daily News. Jul 26, 2010.
  212. Gessen M. Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene. Orlando, FL: Harcourt; 2008.
  213. GHR (Genetics Home Reference). Pulmonary Arterial Hypertension. 2007. [August 27, 2010]. http://ghr​.nlm.nih.gov​/condition=pulmonaryarterialhypertension.
  214. Gibbs JN. Oversight of research use only products. Genetic Engineering & Biotechnology News. 2010;30(5)
  215. Gillick MR. Controlling off-label medication use. Annals of Internal Medicine. 2009;150(5):344–347. [PubMed: 19221367]
  216. Glaser C, Schuste F, Yagi S, Gavali S, Bollen A, Glastonbury C, Raghavan R, et al. Balamuthia amebic encephalitis—California, 1999-2007, Morbidity and Mortality Weekly Report. 2008. [August 5, 2010]. pp. 768–771. http://www​.cdc.gov/mmwr/PDF/wk/mm5728​.pdf. [PubMed: 18636064]
  217. Gliklich RE, Dreyer NA. Registries for Evaluating Patient Outcomes: A User's Guide, Outcome DEcIDE Center. 2007. [August 5, 2010]. AHRQ Publication Number 07-EHC001-1. http://www​.effectivehealthcare​.ahrq.gov/repFiles​/PatOutcomes.pdf.
  218. Glover GJ. The influence of market exclusivity on drug availability and medical innovations, AAPS Journal. 2007. [August 20, 2010]. p. 34. http://www​.aapsj.org​/articles/aapsj0903/aapsj0903034​/aapsj0903034.pdf. [PMC free article: PMC2751479] [PubMed: 17915833]
  219. Goodman JL. FDA's Efforts on Rare and Neglected Diseases: Statement to the Senate Appropriations Subcommittee on Agriculture, Rural Development, Food and Drug Administration, and Related Agencies; Washington, DC. June 23; 2010. [August 5, 2010]. http://www​.fda.gov/NewsEvents​/Testimony/ucm216991.htm.
  220. Gordon EJ, Philpott S. The convergence of research and clinical practice: institutional review board review of humanitarian use device applications. Journal of Empirical Research on Human Research Ethics. 2008;3(4):81–89. [PubMed: 19385757]
  221. Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects, Annual Review of Genomics and Human Genetics. 2003. [September 7, 2010]. pp. 403–436. http://arjournals​.annualreviews​.org/doi/abs/10​.1146/annurev.genom​.4.070802.110415. [PubMed: 14527307]
  222. Grabowski H. Encouraging the development of new vaccines. Health Affairs. 2005;24(3):697–700. [PubMed: 15886162]
  223. Grabowski HG, Vernon JM. Brand loyalty, entry, and price competition in pharmaceuticals after the 1984 Drug Act. Journal of Law and Economics. 1992;35(2):331.
  224. Grant B. The Orphan Drug Act turns 25. The Scientist.com. 2008;22(10):67.
  225. Greenberg BD, Malone DA, Friehs GM, Rezai AR, Kubu CS, Malloy PF, Salloway SP, et al. Three-year outcomes in deep brain stimulation for highly resistant obsessive-compulsive disorder, Neuropsychopharmacology. 2006. [August 5, 2010]. pp. 2384–2393. http://www​.nature.com​/npp/journal/v31/n11/full/1301165a.html. [PubMed: 16855529]
  226. Greibel D. Memorandum to Julie Beitz, Director, Office of Drug Evaluation III, Center for Drug Evaluation and Research, FDA RE: Approval Action—NDA 022562, Summary Review, NDA 0225562 [Carbaglu/carglumic acid]. Mar 16, 2010. [August 19, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/nda/2010/022562s000sumr.pdf.
  227. Grenier D, Elliott EJ, Zurynski Y, Rodrigues Pereira R, Preece M, Lynn R, von Kries R, et al. Beyond counting cases: public health impacts of national paediatric surveillance units. Archives of Disease in Childhood. 2007;92(6):527–533. [PMC free article: PMC2066170] [PubMed: 17158859]
  228. Guth RA. Glaxo tries a Linux approach: drug maker shares its research data online in test of open-source principles, Wall Street Journal. May 26, 2010. [August 5, 2010]. http://online​.wsj.com​/article/SB10001424052748703341904575266583403844888​.html?mod​=WSJ_hps_MIDDLEFifthNews.
  229. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312(5770):117–121. [PMC free article: PMC1482474] [PubMed: 16601194]
  230. Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. New England Journal of Medicine. 2010;363(4):355–364. [PMC free article: PMC2957288] [PubMed: 20660403]
  231. Haffner ME. Orphan products: origins, progress, and prospects. Annual Review of Pharmacology and Toxicology. 1991;31:603–620. [PubMed: 2064386]
  232. Haffner ME. Adopting orphan drugs—two dozen years of treating rare diseases. New England Journal of Medicine. 2006;354(5):445–447. [PubMed: 16452556]
  233. Haffner ME, Maher PD. The impact of the Orphan Drug Act on drug discovery. Expert Opinion on Drug Discovery. 2006;1(6):521–524. [PubMed: 23506063]
  234. Haffner ME, Torrent-Farnell J, Maher PD. Does orphan drug legislation really answer the needs of patients? Lancet. 2008;371:2041–2044. [PubMed: 18555916]
  235. Haigh C. Gut-derived serotonin regulated bone formation, Endocrine Today. Dec 25, 2008. [August 11, 2010]. http://www​.endocrinetoday​.com/view.aspx?rid=33535.
  236. Hamburg MA. Remarks of Margaret A. Hamburg, M.D., Commissioner of Food and Drugs at AAAS—The Future of Personalized Medicine. 2009. [August 5, 2010]. http://www​.fda.gov/NewsEvents​/Speeches/ucm191356.htm.
  237. Hamburg MA. Remarks of Margaret A. Hamburg, M.D., Commissioner of Food and Drugs at the Announcement of FDA/NIH Collaboration. 2010. [August 5, 2010]. http://www​.fda.gov/NewsEvents​/Speeches/ucm201687.htm.
  238. Hamburg MA. Statement before the Subcommittee on Agriculture, Rural Redevelopment, Food and Drug Administration, and Related Agencies, U.S. Senate. March 9. 2010. [August 5, 2010]. http://www​.fda.gov/NewsEvents​/Testimony/ucm204379.htm.
  239. Han J. The optimal scope of FDA regulation of genetic tests: meeting challenges and keeping promises. Harvard Journal of Law & Technology. 2007;20(2):423–441.
  240. Harris G. FDA backtracks and returns drug to market, New York Times. Sep 3, 2010. [September 9, 2010]. http://www​.nytimes.com​/2010/09/04/health/policy/04fda.html.
  241. Harvey W. Letter IX, to John Vlackveld (24 April 1657) The Circulation of the Blood. New York: Cosimo; 2006. pp. 200–201.
  242. Heemstra HE, van Weely S, Büller HA, Leufkens HGM, de Vrueh RLA. Translation of rare disease research into orphan drug development: disease matters. Drug Discovery Today. 2009;14(23-24):1166–1173. [PubMed: 19818412]
  243. Hemsley KM, Hopwood JJ. Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases. International Journal of Clinical Pharmacology and Therapeutics. 2009;47(Suppl 1):S118–123. [PubMed: 20040322]
  244. Hendee WR, Chien S, Maynard CD, Dean DJ. The National Institute of Biomedical Imaging and Bioengineering: history, status, and potential impact. Annals of Biomedical Engineering. 2002;30:2–10. [PubMed: 11874139]
  245. Henig RM. What's wrong with Summer Stiers? New York Times. Feb 18, 2009. [August 5, 2010]. http://www​.nytimes.com​/2009/02/22/magazine/22Diseases-t.html.
  246. Henkel J. Orphan Drug Law matures into medical mainstay. FDA Consumer Magazine. 1999 [PubMed: 10443187]
  247. Henney J. Presentation to Mid-America Coalition on Health Care meeting on managing medical risk; Kansas City, MO. March 27; 2000. [August 23, 2010]. http://www​.fda.gov/NewsEvents​/Speeches/ucm054279.htm.
  248. Heresi GA, Dweik RA. Biomarkers in pulmonary hypertension, Pulmonary Vascular Research Institute Review. 2010. [August 27, 2010]. pp. 12–16. http://www​.pvrireview​.org/article.asp?issn​=0974-6013;year=2010;volume​=2;issue=1;spage​=12;epage=16;aulast=Heresi.
  249. Herper M. The world's most expensive drugs, Forbes.com. 2010. [August 5, 2010]. http://www​.forbes.com​/2010/02/19/expensive-drugs-cost-business-healthcare-rare-diseases.html.
  250. Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Seminars in Liver Disease. 2007;27(3):282–294. [PubMed: 17682975]
  251. High KA. The Jeremiah Metzger Lecture: gene therapy for inherited disorders: from Christmas disease to Leber's amaurosis. Transactions of the American Clinical and Climatological Association. 2009;120:331–359. [PMC free article: PMC2744558] [PubMed: 19768188]
  252. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. Journal of the American Society of Nephrology. 2007;18(6):1855–1871. [PubMed: 17513324]
  253. Hill N. Spiration® experience with the humanitarian device exemption (HDE) process. Presentation to the IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  254. Hirschhorn JN. Genomewide association studies—illuminating biologic pathways. New England Journal of Medicine. 2009;360(17):1699–1701. [PubMed: 19369661]
  255. Hoffman GS. WG or VF: What's in a Name? 2006. http://www​.vasculitisfoundation​.org/node/1708.
  256. Holahan J, Headen I. Medicaid Coverage and Spending in Health Reform: National and State by State Results for Adults At or Below 133% FPL. 2010. [August 5, 2010]. http://www​.kff.org/health​.reform/upload/Medicaid-Coverage-and-Spending-in-Health-Reform-National-and-State-By-State-Results-for-Adults-at-or-Below-133-FPL.pdf.
  257. Hollaway R. Joe Is Not My Son Alphas, Friends & Family. 2007. [August 27, 2010]. http://www​.alpha-1foundation​.org/alphas/joe-is-not-my-son.
  258. Horner MD, Ries LAG. Ries LA, Young JL, Keel GE, Eisner MP, Lin YD, Horner MD, editors. Leukemia (Chapter 29), SEER Survival Monograph: Cancer Survival Among Adults: US SEER Program, 1988-2001, Patient and Tumor Characteristics. Bethesda, MD: National Cancer Institute; 2007. [September 1, 2010]. NIH Pub. No. 07-6215. http://seer​.cancer.gov​/publications/survival/surv_leukemia​.pdf.
  259. Howell RR. Letter to Michael Leavitt, Secretary, U.S. Department of Health and Human Services, RE: Recommendations to the Secretary of Health and Human Services from the Advisory Committee on Heritable Disorders in Newborns and Children. September 9. 2005. [August 19, 2010]. http://www​.hrsa.gov/heritabledisorderscommittee​/correspondence/sep2005letter.htm.
  260. Huang A, Javitt G. FDA Regulation of Genetic Tests. 2008. [August 5, 2010]. http://www​.dnapolicy​.org/images/issuebriefpdfs​/FDA_Regulation​_of_Genetic_Test_Issue_Brief.pdf.
  261. Hubacher D. The checkered history and bright future of intrauterine contraception in the United States. Perspectives on Sexual and Reproductive Health. 2002;34(2):98–103. [PubMed: 12043715]
  262. Hunter J, Stephens S. Is open innovation the way forward for big pharma? Nature Reviews Drug Discovery. 2010;9:87–88.
  263. Hyde J. Memorandum to Julie Beitz, Office of Drug Evaluation 3, Center for Drug Evaluation and Research, FDA, RE: Summary Supervisory Review of BLA/STN, 125151/0 [Elaprase] Idursulfase for Mucopolysaccharidosis Type II (Hunter Syndrome). Silver Spring, MD: Jul 24, 2006.
  264. Hyman SE. A glimmer of light for neuropsychiatric disorders. Nature. 2008;455(7215):890–893. [PubMed: 18923510]
  265. ICMJE (International Committee of Medical Journal Editors). Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Publishing and Editorial Issues Related to Publication in Biomedical Journals: Obligation to Register Clinical Trials. 2009. [August 13, 2010]. http://www​.icmje.org​/publishing_10register.html.
  266. IFOPA (International Fibrodysplasia Ossificans Progressiva Association). FOP FAQ. 2009. [August 5, 2010]. http://www​.ifopa.org/index​.php?option=com​_content&view​=article&id​=24&Itemid=156&lang=en.
  267. Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. Journal of Clinical Endocrinology and Metabolism. 2010;95(4):1846–1850. [PMC free article: PMC2853995] [PubMed: 20157195]
  268. Interagency Task Force to the Secretary of Health, Education, and Welfare. Significant Drugs of Limited Commercial Value. Rockville, MD: Food and Drug Administration; 1979.
  269. IOM (Institute of Medicine). The Artificial Heart: Prototypes, Policies, and Patients. Washington, DC: National Academy Press; 1991. [PubMed: 25121317]
  270. IOM. Tuberculosis in the Workplace. Washington, DC: National Academy Press; 2001. [PubMed: 25057546]
  271. IOM. Improving Medical Education: Enhancing the Behavioral and Social Science Content of Medical School Curricula. Washington, DC: The National Academies Press; 2004. [PubMed: 20669422]
  272. IOM. Safe Medical Devices for Children. Field MJ, Tilson H, editors. Washington, DC: The National Academies Press; 2006.
  273. IOM. Future of Disability in America. Washington, DC: The National Academies Press; 2007.
  274. IOM. Breakthrough Business Models: Drug Development for Rare and Neglected Diseases and Individualized Therapies: Workshop Summary. Washington, DC: The National Academies Press; 2008. [PubMed: 21210560]
  275. IOM. Preventing Mental, Emotional, and Behavioral Disorders Among Young People: Progress and Possibilities. Washington, DC: The National Academies Press; 2009. [PubMed: 20662125]
  276. IOM. Venture Philanthropy Strategies to Support Translational Research Workshop Summary. Washington, DC: The National Academies Press; 2009. [PubMed: 20845550]
  277. IOM. Evaluation of Biomarkers and Surrogate Endpoints in Chronic Disease. Washington, DC: The National Academies Press; 2010. [PubMed: 25032382]
  278. IOM. Extending the Spectrum of Precompetitive Collaboration in Oncology Research Workshop Summary. Washington, DC: The National Academies Press; 2010. [PubMed: 24983033]
  279. IOWH (Institute for OneWorld Health). $426 Million Five-Year Grant From Gates Foundation for Antimalarial Drug Brings Together Unique Collaboration of Biotech, Academia and Nonprofit Pharma. Dec 13, 2004. [September 7, 2010]. (press release) http://www​.oneworldhealth​.org/documents/DP_​%20Malaria%20Release%20121304.pdf.
  280. Iribarne A. Orphan diseases and adoptive initiatives. Journal of the American Medical Association. 2003;290:116. [PubMed: 12837724]
  281. IRSF (International Rett Syndrome Foundation). Rett Syndrome Research Landscape. 2008. [August 20, 2010]. http://www​.rettsyndrome​.org/dmdocuments/IRSF_LANDSCAPE​%20ANALYSIS_2008-1.pdf.
  282. Javitt GH. In search of a coherent framework: options for FDA oversight of genetic tests. Food and Drug Law Journal. 2007;62(4):617–652. [PubMed: 18557224]
  283. Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, NIH Intramural Sequencing Center. Chong K, et al. Massively parallel sequencing of exons on the x chromosome identifies rbm10 as the gene that causes a syndromic form of cleft palate. American Journal of Human Genetics. 2010;86(5):743–748. [PMC free article: PMC2868995] [PubMed: 20451169]
  284. Jones JA, Spinale FG, Ikonomidis JS. Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis, Journal of Vascular Research. 2009. [August 11, 2010]. pp. 119–137. http://www​.ncbi.nlm.nih​.gov/pmc/articles/PMC2645475/ [PMC free article: PMC2645475] [PubMed: 18765947]
  285. Jones M. FDA Joins NIH and EPA in Tox21 Effort. July 20. 2010. [August 20, 2010]. http://www​.genomeweb​.com/fda-joins-nih-and-epa-tox21-effort.
  286. JPMA (Japan Pharmaceutical Manufacturers Association, E. R. I. T. F). Pharmaceutical administration and regulations in Japan, Information in English on Japan Regulatory Affairs. 2008. [August 5, 2010]. http://www​.nihs.go.jp​/mhlw/yakuji/yakuji-e0808.pdf.
  287. Justice R. Approval Letter to Bayer Pharmaceuticals Corporation for New or Modified Indication Application Number 021923 [Nexavarto]. Rockville, MD: Nov 16, 2007. [August 19, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/appletter/2007​/021923s004,s005,s006,s007.pdf.
  288. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K., International TSD Data Collection Network. Tay-Sachs disease—carrier screening, prenatal diagnosis, and the molecular era: an international perspective, 1970 to 1993. Journal of the American Medical Association. 1993;270(19):2307–2315. [PubMed: 8230592]
  289. Kakkis E. Accelerating development of treatments for rare diseases. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  290. Kaplan AV, Baim DS, Smith JJ, Feigal DA, Simons M, Jefferys D, Fogarty TJ, et al. Medical device development: from prototype to regulatory approval. Circulation. 2004;109(25):3068–3072. [PubMed: 15226221]
  291. Kaplan AV, Harvey ED, Kuntz RE, Shiran H, Robb JF, Fitzgerald P. Humanitarian use devices/humanitarian device exemptions in cardiovascular medicine. Circulation. 2005;112(18):2883–2886. [PubMed: 16267261]
  292. Karst KR. Outstanding Pre-FDAAA Citizen Petition Causes FDA to Rule Against 180-Day Exclusivity Forfeiture for Generic Skelaxin. 2009. [August 5 2010]. http://www​.fdalawblog​.net/fda_law_blog_hyman_phelps​/2010/05/outstanding-prefdaaa-citizen-petition-causes-fda-to-rule-against-180day-exclusivity-forfeiture-for-g.html.
  293. Karst KR. The rarely used “cost recovery” path to orphan drug designation and approval, FDA Law Blog. 2009. [July 15, 2010]. http://www​.fdalawblog​.net/fda_law_blog_hyman_phelps​/2009/02/the-rarely-used-cost-recovery-path-to-orphan-drug-designation-and-approval.html.
  294. Karst KR. The unusual case of the “MC-to-PC” orphan drug designation/approval, FDA Law Blog. 2009. [August 5, 2010]. http://www​.fdalawblog​.net/fda_law_blog_hyman_phelps​/2009/01/the-unusual-case-of-the-mctopc-orphan-drug-designationapproval-.html.
  295. Karst KR. FDA issues NOOH proposing to withdraw all midodrine HCl approvals, FDA Law Blog. 2010. [September 1, 2010]. http://www​.fdalawblog​.net/fda_law_blog_hyman_phelps​/2010/08/fda-issues-nooh-proposing-to-withdraw-all-mididrine-hcl-approvals.html.
  296. Kay MA, Landen CN, Rothenberg SR, Taylor LA, F Leland Wiehle S, Fang B, et al. In vivo hepatic gene therapy: complete albeit transient correction of factor IX deficiency in hemophilia B dogs. Proceedings of the National Academy of Sciences. 1994;91(6):2353–2357. [PMC free article: PMC43369] [PubMed: 8134398]
  297. Kelley SL. MMRF and MMRC collaborative research model for a rare disease. Presentation on behalf of the Multiple Myeloma Research Foundation and the Multiple Myeloma Research Consortium to the IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. November 23. 2009.
  298. Kelly AM, Kratz B, Bielski M, Rinehart PM. Implementing transitions for youth with complex chronic conditions using the medical home model. Pediatrics. 2002;110(6):1322–1327. [PubMed: 12456952]
  299. Kelly PF, Radtke S, Von Kalle C, Balcik B, Bohn K, Mueller R, Schuesler T, et al. Stem cell collection and gene transfer in Fanconi anemia. Molecular Therapy. 2007;15(1):211–219. [PubMed: 17164793]
  300. Kesselheim AS, Mello MM. Gene patenting—is the pendulum swinging back? New England Journal of Medicine. 2010;362(20):1855–1858. [PubMed: 20375396]
  301. Kesselheim AS, Solomon DH. Incentives for drug development—the curious case of colchicine. New England Journal of Medicine. 2010;362(22):2045–2047. [PubMed: 20393164]
  302. KFF (Kaiser Family Foundation). [Medicaid] Benefits by Service: Prescription Drugs (October 2008). 2008. [August 5, 2010]. http:​//medicaidbenefits​.kff.org/service.jsp?gr​=off&nt​=on&so=0&tg​=0&yr​=4&cat=5&sv=32.
  303. KFF. Fact Sheet: Medicare Advantage. 2009. [August 5, 2010]. http://www​.kff.org/medicare​/upload/2052-13.pdf.
  304. KFF. Fact Sheet: The Medicare Prescription Drug Benefit. 2009. [August 5, 2010]. http://www​.kff.org/medicare​/upload/7044-10.pdf.
  305. KFF. Employer Health Benefits: 2009 Annual Survey. 2009. [August 5, 2010]. http://ehbs​.kff.org/pdf/2009/7936.pdf.
  306. KFF. Medicare Part D 2010 Data Spotlight: Benefit Design and Cost Sharing. 2009. [August 5, 2010]. http://www​.kff.org/medicare/upload/8033​.pdf.
  307. KFF-SHF (Kaiser Family Foundation, statehealthfacts.org). Health Insurance Coverage of Nonelderly 0-64, States (2007-2008), U.S. (2008). 2010. [August 5, 2010]. http://www​.statehealthfacts​.org/comparetable​.jsp?ind=126&cat=3.
  308. Kleta R, Gahl WA. Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opinion on Pharmacotherapy. 2004;5(11):2255–2262. [PubMed: 15500372]
  309. Kocs D, Fendrick AM. Effect of off-label use of oncology drugs on pharmaceutical costs: the rituximab experience. American Journal of Managed Care. 2003;9(5):393–400. [PubMed: 12744301]
  310. Kramer DLB, Mallis E, Zuckerman BD, Zimmerman BA, Maisel WH. Premarket clinical evaluation of novel cardiovascular devices: quality analysis of premarket clinical studies submitted to the Food and Drug Administration 2000-2007. American Journal of Therapeutics. 2010;17(1):2–7. [PubMed: 20038828]
  311. Kuehn BM. Strategy reveals rare disease genes. Journal of the American Medical Association. 2010;303(24):2463.
  312. Lacro RV, Gietz HC, Wruck LM, Bradley TJ, Colan SD, Devereux RB, Klein GL, et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. American Heart Journal. 2007;154(4):624–631. [PMC free article: PMC3042860] [PubMed: 17892982]
  313. Laessig K. Presentation at Division of Anti-infective Drugs Advisory Committee Meeting; Washington, DC. December 10; 2009. [August 5, 2010]. http://www.fda.gov/downloads/AdvisoryCommittees/CommitteesMeetingMaterials/Drugs/Anti-InfectiveDrugsAdvisoryCommit tee/UCM197009.pdf.
  314. Lai K, Tang M, Yin X, Klapper H, Wierenga K, Elsas LJ. ARHI: a new target of galactose toxicity in classic galactosemia. Bioscience Hypotheses. 2008;1(5):263–271. [PMC free article: PMC2613282] [PubMed: 19122833]
  315. LeBowitz JH. A breach in the blood-brain barrier, Proceedings of the National Academy of Sciences. 2005. pp. 14485–14486. http://www​.pnas.org/content​/102/41/14485.full%5d. [PMC free article: PMC1253613] [PubMed: 16203965]
  316. LeMasurier JD, Edgar B. MIPPA: first broad changes to Medicare Part D Plan operations, American Health & Drug Benefits. 2009. [August 5, 2010]. pp. 111–118. http://www​.ahdbonline​.com/docs/april_09/LeMasurier​_AprilMay09.pdf. [PMC free article: PMC4106553] [PubMed: 25126279]
  317. Lerner BH. When diseases disappear: the case of familial dysautonomia. New England Journal of Medicine. 2009;361(17):1622–1625. [PubMed: 19846847]
  318. Lewis D. Rare diseases update. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  319. LGDA (Lymphangiomatosis & Gorham's Disease Alliance). About Gorham's Disease. 2009. [August 5, 2010]. http://lgdalliance​.org​/en/aboutGorhamsDisease/Default.aspx.
  320. Li Y, Brockmann K, Turecek F, Scott CR, Gelb MH. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clinical Chemistry. 2004;50(3):638–640. [PubMed: 14981030]
  321. Library of Congress. Country Studies: Japan. 1994. [August 5, 2010]. http://memory​.loc.gov/frd/cs/jptoc.html.
  322. Lifton RP. Individual genomes on the horizon. New England Journal of Medicine. 2010;362(13):1235–1236. [PubMed: 20220178]
  323. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell. 2001;104(4):545–556. [PubMed: 11239411]
  324. Lim-Melia ER, Kronn DF. Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Pediatric Annals. 2009;38(8):448–455. [PubMed: 19725195]
  325. Linehan JH, Paté-Cornell ME, Yock PG, Pietzsch JB. Study on Medical Device Development Models Final Report. Stanford, CA: Stanford University; 2007.
  326. Liu L, Krailo M, Reaman GH, Bernstein L. Childhood cancer patients' access to cooperative group cancer programs: a population-based study. Cancer. 2003;97:1339–1345. [PubMed: 12599243]
  327. Llovet JM, Ricci S, Mazzaferro V, Hilgard P, Gane E, Blanc JF, de Oliveira AC. Sorafenib in advanced hepatocellular carcinoma. New England Journal of Medicine. 2008;359(4):378–390. [PubMed: 18650514]
  328. Lloyd C. Letter to Carol Benson, Center for Devices and Radiological Health RE: de nova classification of NeoGram Amino Acids and Acylcarnitines Tandem Mass Spectrometry Kit, Model MS-8970, Dockets Management, Docket # 2004P-0419. Jun 30, 2004. [August 19, 2010]. http://www​.fda.gov/ohrms​/dockets/dailys/04​/sep04/091404/04p-0419-cp00001-vol1​.pdf.
  329. Long F. When the gut talks to bone. Cell. 2008;135(5):795–796. [PubMed: 19041744]
  330. Lu M, Vasavada DZ, Tanner C. Lemierre syndrome following oropharyngeal infection: a case series. Journal of the American Board of Family Medicine. 2009;22(1):79–83. [PubMed: 19124638]
  331. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DCY, Nazareth L, Bainbridge M, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine. 2010;362(13):1181–1191. [PMC free article: PMC4036802] [PubMed: 20220177]
  332. Madsen CA. Herceptin (Trastuzumab) a real world example of pharmacogenomics—maximizing patient benefit, WeSRCH Medtech. Jul 29, 2004. [September 22, 2010]. http://medical​.wesrch.com/pdf ME1XXFF7UAXKL.
  333. Maegawa GHB, Steiner RD. Treating genetic disorders, Medical Genetics and Pediatric Practice: A Handbook. Saul RA, editor. Elk Grove Village, IL: American Academy of Pediatrics; In press.
  334. Maestri NE, Beaty TH. Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. American Journal of Medical Genetics. 1992;44(5):576–582. [PubMed: 1481812]
  335. Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, et al. Von Hippel-Lindau disease: a genetic study. Journal of Medical Genetics. 1991;28:443–447. [PMC free article: PMC1016952] [PubMed: 1895313]
  336. Majumdar SR. Cost sharing and the initiation of drug therapy for the chronically ill—invited commentary. Archives of Internal Medicine. 2009;169(8):748–749. [PMC free article: PMC3875311] [PubMed: 19398684]
  337. Maloney P. Laboratory regulation under the Clinical Laboratory Improvement Amendments of 1988 and state laws, In Vitro Diagnostics: The Complete Regulatory Guide. Danzis SD, Flannery EJ, editors. Washington, DC: The Food and Drug Law Institute; 2010.
  338. Manning E, Pham S, Li S, Vazquez-Padron RI, Mathew J, Ruiz P, Salgar SK. Interleukin-10 delivery via mesenchymal stem cells: a novel gene therapy approach to prevent lung ischemia-reperfusion injury. Human Gene Therapy. 2010;21(6):713–727. [PubMed: 20102275]
  339. Mansfield E, Težak Ž. FDA regulation of genetic testing, In Vitro Diagnostics: The Complete Regulatory Guide. Danzis SD, Flannery EJ, editors. Washington, DC: The Food and Drug Law Institute; 2010.
  340. March of Dimes. Fact Sheet: Newborn Screening. 2010. [August 5, 2010]. http://www​.marchofdimes​.com/professionals/14332_1200.asp.
  341. Marcus AD. My data, your data, our data, Wall Street Journal. Apr 13, 2010. [August 5, 2010]. http://online​.wsj.com​/article/SB10001424052748703625304575116512173339800​.html#printMode.
  342. Marcus AD. NIH takes on new role in fight against rare diseases, Wall Street Journal. Jul 24, 2010. [August 20, 2010]. http://online​.wsj.com​/article/NA_WSJ_PUB​:SB10001424052748704249004575385363395104490​.html#articleTabs%3Darticle.
  343. Marcus AD. Push to cure rare diseases, Wall Street Journal. Mar 10, 2010. [August 27, 2010]. http://www​.kgi.edu/Documents​/In_the_news​/FDA%20Pushes%20for%20Cures​%20for%20Rare%20Diseases.pdf.
  344. Maron BJ, Estes NAM. Commotio cordis. New England Journal of Medicine. 2010;362(10):917–927. [PubMed: 20220186]
  345. Maschke KJ. Disputes over research with residual newborn screening blood specimens. Hastings Center Report. 2009;40(2)
  346. Masiello SA, Epstein JS. Correction Letter to Stephen Arnon, Senior Director, Regulatory Affairs, Cato Research, Inc. for October 23, 2003, Approval letter BabyBIG. Dec 9, 2003. [August 19, 2010]. http://www​.fda.gov/BiologicsBloodVaccines​/BloodBloodProducts​/ApprovedProducts/LicensedProductsBLAs​/FractionatedPlasmaProducts/ucm117164.htm.
  347. McCabe MT, Brandes JC, Vertino PM. Cancer DNA methylation: molecular mechanisms and clinical implications. Clinical Cancer Research. 2009;15:3927–3937. [PMC free article: PMC2715155] [PubMed: 19509173]
  348. McCarty M, Young K. FDA to push ahead with assay guidance despite opposition, Advances in Diagnostics & Imaging. 2007. [August 5, 2010]. pp. 15–19. http://www​.medicaldevicedaily​.com/img/S07414SamplePages.pdf.
  349. Medline Plus. Beriberi. Jul 12, 2008. [August 5, 2010]. http://www​.nlm.nih.gov​/medlineplus/ency/article/000339.htm.
  350. MedPAC (Medicare Payment Advisory Commission). Report to the Congress: Impact of Changes in Medicare Payments for Part B Drugs. 2007. [August 5, 2010]. http://www​.medpac.gov​/documents/Jan07_PartB_mandated_report​.pdf.
  351. MedPAC. Outpatient Hospital Services Payment System. 2008. [August 5, 2010]. http://www​.medpac.gov​/documents/MedPAC_Payment​_Basics_08_OPD.pdf. [PubMed: 18162793]
  352. MedPAC. Medicare payment systems and follow-on biologics, Report to the Congress: Improving Incentives in the Medicare Program. 2009. [August 5, 2010]. http://www​.medpac.gov​/chapters/Jun09_Ch05.pdf.
  353. MedPAC. Chapter 5: Status report on Part D, Report to the Congress: Medicare Payment Policy. 2010. [August 5, 2010]. http://www​.medpac.gov​/chapters/Mar10_Ch05.pdf.
  354. MedPAC. Chapter 2: Improving traditional Medicare's benefit design. In Report to the Congress: Aligning Incentives in Medicare. 2010. [August 5, 2010]. http://www​.medpac.gov​/chapters/Jun10_Ch02.pdf.
  355. Medtronic Inc. Melody® Transcatheter Pulmonary Valve Ensemble® Transcatheter Valve Delivery System. 2009. [August 5, 2010]. http://wwwp​.medtronic​.com/Newsroom/LinkedItemDetails​.do?itemId​=1260978939170&itemType​=fact_sheet&lang​=en_US.
  356. Medtronic, Inc. First Publication of Data from Pivotal Clinical Trial for Medtronic Deep Brain Stimulation Therapy for Epilepsy Published Today in Epilepsia. 2010. [August 5, 2010]. http://wwwp​.medtronic​.com/Newsroom/NewsReleaseDetails​.do?itemId=1268914059828.
  357. Mehta S, Myers TG, Lonner JH, Huffman GR, Sennett BJ. The ethics of sham surgery in clinical orthopaedic research. Journal of Bone and Joint Surgery. 2007;89(7):1650–1653. [PubMed: 17606805]
  358. Melese T, Lin SM, Chang JL, Cohen NH. Open innovation networks between academia and industry: an imperative for breakthrough therapies. Nature Medicine. 2009;15:502–507. [PubMed: 19424212]
  359. Merkens LS, Wassif C, Healy K, Pappu AS, DeBarber AE, Penfield JA, Lindsay RA, et al. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLOS/RSH foundation scientific conference sponsored by the National Institutes of Health. Genetic Medicine. 2009;11(5):359–364. [PMC free article: PMC2884390] [PubMed: 19452638]
  360. Meyers A, Di Paola ML. The orphan medicinal products: an international challenge, Minerva Biotechnologica. 2003. [August 5, 2010]. http://www​.rarediseases​.org/news/images/minerva​_biotech_orphmed_article_11504​.jpg.
  361. Mikhail IS. Design issues in the study of rare cancers. Presented at the 2nd NCI Epidemiology Leadership Workshop: Understudied Rare Cancers; Boston, MA. 2005. [September 1, 2010]. http://epi​.grants.cancer​.gov/documents/Conference2​/slides/Mikhail.pdf.
  362. Miller FG. Sham surgery: an ethical analysis. American Journal of Bioethics. 2003;3(4):41–48. [PubMed: 14744332]
  363. Milne CP. Orphan products—pain relief for clinical development headaches. Nature Biotechnology. 2002;20(8):780–784. [PubMed: 12148001]
  364. Mingozzi F, High KA. Gateway to the diseased brain, Nature Medicine. 2009. [August 12, 2010]. pp. 1123–1124. http://www​.nature.com​/nm/journal/v15/n10/abs/nm1009-1123​.html. [PubMed: 19812565]
  365. Mitka M. Off-label cancer drug compendia found outdated and incomplete. Journal of the American Medical Association. 2009;301(16):1645–1646. [PubMed: 19383947]
  366. Mitsumoto J, Dorsey ER, Beck CA, Kieburtz K, Griggs RC. Pivotal studies of orphan drugs approved for neurological diseases. Annals of Neurology. 2009;66(2):184–190. [PMC free article: PMC3785304] [PubMed: 19743448]
  367. Mizrachi I. McEntyre J, Ostell J, editors. GenBank: The Nucleotide Sequence Database, The NCBI Handbook. 2007. [August 22, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br.fcgibook=handbook&part=ch1.
  368. MMF (Minnesota Medical Foundation). Setting the Pace: What Do You Get When You Combine a Heart Surgeon and an Electrical Engineer? 2007. [August 5, 2010]. http://www​.mmf.umn.edu​/bulletin/2007/fall/lookback/index.cfm.
  369. MMV (Medicines for Malaria Venture). Annual Report. 2002. [August 5, 2010]. http://www​.mmv.org/newsroom​/publications/annual-report-2002.
  370. MMV. Annual Report. 2003. [August 5, 2010]. http://www​.mmv.org/newsroom​/publications/annual-report-2003.
  371. Monroe CD, Potter L, Millares M, Barrueta A, Wagner R. Kaiser Permanente's evaluation and management of biotech drugs: assessing, measuring, and affecting use. Health Affairs. 2006;25(5):1340–1346. [PubMed: 16966731]
  372. Moore JH, Ritchie MD. The challenges of whole-genome approaches to common diseases. Journal of the American Medical Association. 2004;291(13):1642–1643. [PubMed: 15069055]
  373. Moran M. A breakthrough in R&D for neglected diseases: new ways to get the drugs we need, PLoS Medicine. 2005. [December 1, 2010]. p. e302. http://www​.ncbi.nlm.nih​.gov/pmc/articles/PMC1198042/ [PMC free article: PMC1198042] [PubMed: 16138789]
  374. Moran M, Ropars AL, Guzman J, Diaz J, Garrison C. The New Landscape of Neglected Disease Drug Development, The Wellcome Trust and London School of Economics and Political Sciences. London: The Wellcome Trust Publications Department; 2004.
  375. Morel CM. Reaching maturity—25 years of the TDR. Parasitology Today. 2000;16(12):522–528. [PubMed: 11121849]
  376. Moseley JB, O'Malley K, Petersen NJ, Menke TJ, Brody BA, Kuykendall DH, Hollingsworth JC, et al. A controlled trial of arthroscopic surgery for osteoarthritis of the knee. New England Journal of Medicine. 2002;347(2):81–88. [PubMed: 12110735]
  377. Moser AB, Steinberg SJ, Raymond GV. X-linked adrenoleukodystrophy, Gene Reviews. 2009. [August 5, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=x-ald.
  378. Mossinghoff GJ. Overview of the Hatch-Waxman Act and its impact on the drug development process. Food and Drug Law Journal. 1999;54(2):187–194. [PubMed: 11758572]
  379. Moyer VA, Calonge N, Teutsch SM, Botkin JR. Expanding newborn screening: process, policy, and priorities. Hastings Center Report. 2008;38(3):32–39. [PubMed: 18581935]
  380. MRF (Myelin Research Foundation). Comparisons Between ARC vs Traditional Research. 2010. [August 5, 2010]. http://www​.myelinrepair​.org/research_model​/arc_vs_traditional_research.shtml.
  381. Munos B. Lessons from 60 years of pharmaceutical innovation. Nature Reviews Drug Discovery. 2009;8(12):959–968. [PubMed: 19949401]
  382. Munos B. Can open-source drug R&D repower pharmaceutical innovation? Clinical Pharmacology and Therapeutics. 2010;87:534–536. [PubMed: 20407458]
  383. Nathan D. Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases. Genome Medicine. 2009;1(114) [PMC free article: PMC2808730] [PubMed: 20017892]
  384. Nathan DG, Orkin SH. Musings on genome medicine: gene therapy. Genome Medicine. 2009;1(38) [PMC free article: PMC2684659] [PubMed: 19435468]
  385. NAS (National Academy of Sciences). Materials and Society: From Research to Manufacturing—Report of a Workshop. Washington, DC: The National Academies Press; 2003.
  386. NCCAM (National Center for Complementary and Alternative Medicine). Milk Thistle. 2008. [August 5, 2010]. http://nccam​.nih.gov​/health/milkthistle/ataglance.htm.
  387. NCBI (National Center for Biotechnology Information). GENETests: Growth of Laboratory Directory. 2009. [August 4, 2010]. http://www​.ncbi.nlm.nih​.gov/projects/GeneTests​/static/whatsnew/labdirgrowth​.shtml.
  388. NCBI. Questions and Answers: Genetic Testing Registry. 2010. [August 4, 2010]. http://www​.ncbi.nlm.nih.gov/gtr/qa/
  389. NCI (National Cancer Institute). Adult Brain Tumors Treatment (PDQ®). 2009. [August 5, 2010]. http://www​.cancer.gov​/cancertopics/pdq/treatment​/adultbrain/HealthProfessional​/page10.
  390. NCI. States That Require Health Plans to Cover Patient Care Costs in Clinical Trials. 2009. [August 5, 2010]. http://www​.cancer.gov​/clinicaltrials/developments​/laws-about-clinical-trial-costs. [PubMed: 21303998]
  391. NCI. Table 1.4: Age-Adjusted SEER Incidence and U.S. Death Rates and 5-Year Relative Survival Rates by Primary Cancer Site, Sex and Time Period. 2009. [August 5, 2010]. http://www​.seer.cancer​.gov/csr/1975_2006​/results_merged/topic_survival.pdf.
  392. NCOD (National Commission on Orphan Diseases). Report of the National Commission on Orphan Diseases. Rockville, MD: Public Health Service, U.S. Department of Health and Human Services; 1989.
  393. NDRI (National Disease Research Interchange). The Genetics of Rare Disease: Window to Common Disorders (conference); Washington, DC. March 23. 2003.
  394. NDRI. NDRI Initiatives: Rare Diseases. 2010. [August 4, 2010]. http://www​.ndriresource​.org/NDRI_Initiatives​/Rare_Disease/30/
  395. Neschadim A, McCart JA, Keating A, Medin JA. A roadmap to safe, efficient, and stable lentivirus-medicated gene therapy with hematopoietic cell transplantation. Biology of Blood and Marrow Transplantation. 2007;13(12):1407–1416. [PubMed: 18022569]
  396. Newhouse JP., Insurance Experiment Group. Free for All? Lessons from the RAND Health Insurance Experiment. Cambridge, MA: Harvard University Press; 1993.
  397. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, et al. Exome sequencing identifies the cause of a Mendelian disorder. Nature Genetics. 2009;42(1):30–35. [PMC free article: PMC2847889] [PubMed: 19915526]
  398. NHGRI (National Human Genome Research Institute). Learning About Gaucher Disease. 2009. [August 4, 2010]. http://www​.genome.gov/25521505.
  399. NHLBI (National Heart, Lung, and Blood Institute). Expert Panel Review of the NHLBI Total Artificial Heart (TAH) Program June 1998-November 1999. 2000. [August 4, 2010]. http://www​.nhlbi.nih​.gov/resources/docs/tahrpt.pdf.
  400. NHLBI. NHLBI Working Group Report: Computational Models for Analyzing Genotype-Phenotype Associations in Rare Diseases. 2008. [August 4, 2010]. http://www​.nhlbi.nih​.gov/meetings/workshops​/gpa_rarediseases.htm.
  401. NHLBI. What Is Aplastic Anemia? 2009. [August 4, 2010]. http://www​.nhlbi.nih​.gov/health/dci/Diseases​/aplastic/aplastic_whatis.html.
  402. NHLBI. Sickle Cell Disease Awareness and Education Strategy Development Workshop Report. 2010. [August 20, 2010]. http://www​.nhlbi.nih​.gov/meetings/workshops​/Sickle_Cell_Disease_Workshop.pdf.
  403. NIAMS (National Institute of Arthritis and Musculoskeletal and Skin Diseases). Polymyalgia Rheumatica and Giant Cell Arteritis. 2010. [August 4, 2010]. http://www​.niams.nih​.gov/Health_Info/Polymyalgia/default.asp.
  404. NIBIB (National Institute of Biomedical Imaging and Bioengineering). About NIBIB: Mission & History. 2009. [August 4, 2010]. http://www​.nibib.nih​.gov/About/MissionHistory.
  405. NICHD (National Institute of Child Health and Human Development). NIH Newborn Screening Research Program Named in Memory of Hunter Kelly. 2009. [August 4, 2010]. http://www​.nichd.nih​.gov/news/releases/101909-Hunter-Kelly​.cfm.
  406. NIH (National Institutes of Health). Report on Steps to Coordinate Rare Diseases Research Programs. 2002. [October 11, 2010]. http://rarediseases​.info​.nih.gov/Wrapper​.aspx?src=asp/html/reports/fy1999/SEP​.html.
  407. NIH. Final NIH statement on sharing research data Notice NOT-OD-02-032 February 26. 2003. [August 24, 2010]. http://grants​.nih.gov​/grants/guide/notice-files​/NOT-OD-03-032.html.
  408. NIH. NIH Policy Manual: 1167—Public-Private Partnerships. Sep 25, 2007. [August 20, 2010]. http://oma​.od.nih.gov​/manualchapters/management/1167/
  409. NIH. Nocardia Infection. 2008. [August 4, 2010]. http://www​.nlm.nih.gov​/medlineplus/ency/article/000679.htm.
  410. NIH. NIH Announces Expansion of Rare Diseases Clinical Research Network. 2009. [August 4, 2010]. http://www​.nih.gov/news​/health/oct2009/od-05.htm.
  411. NIH. NIH Announces New Program to Develop Therapeutics for Rare and Neglected Diseases. 2009. [August 4, 2010]. http://rarediseases​.info​.nih.gov/files/TRND​%20Press%20Release.pdf.
  412. NIH. The Cancer Genome Atlas Identifies Distinct Subtypes of Deadly Brain Cancer That May Lead to New Treatment Strategies (news release). 2010. [August 4, 2010]. http://cancergenome​.nih​.gov/media/glioblastoma4subtypes.asp.
  413. NIH. Advancing Regulatory Science Through Novel Research and Science-Based Technologies (U01). Request for Applications Number: RFA-RM-10-006. 2010. [August 4, 2010]. http://grants​.nih.gov​/grants/guide/rfa-files/RFA-RM-10-006​.html.
  414. Nijsten T, Bergstresser PR. Patient advocacy groups: let's stick together, Journal of Investigative Dermatology. 2010. [September 8, 2010]. pp. 1757–1759. http://www​.nature.com​/jid/journal/v130/n7/pdf/jid2010131a​.pdf. [PubMed: 20548309]
  415. NNSGRC (National Newborn Screening and Genetics Resource Center). National Newborn Screening Status Report. 2010. [August 4, 2010]. http://genes-r-us​.uthscsa​.edu/nbsdisorders.pdf.
  416. NORD (National Organization for Rare Disorders). NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003.
  417. NORD. Testimony Before the Social Security Administration Public Hearing on Compassionate Allowances; Washington, DC. December 4; 2007. [August 4, 2010]. http://www​.ssa.gov/compassionateallowances​/NORDTestimonyCompassionateAllowances120407.pdf.
  418. NORD. NORD Reports Progress in Appropriations Bill. 2010. [August 4, 2010]. http://www​.rarediseases​.org/news/Appropriations_Progress.
  419. NRC (National Research Council). Bioinformatics: Converting Data to Knowledge: Workshop Summary. Washington, DC: National Academy Press; 2000. [PubMed: 20669493]
  420. NRC. Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation and Public Health. Washington, DC: The National Academies Press; 2006. [PubMed: 20669435]
  421. NRC. The New Science of Metagenomics: Revealing the Secrets of Our Microbial Planet. Washington, DC: The National Academies Press; 2007. [PubMed: 21678629]
  422. NRC. A New Biology for the 21st Century: Ensuring the United States Leads the Coming Biology Revolution. Washington, DC: The National Academies Press; 2009. [PubMed: 20662113]
  423. NTP (National Toxicology Program). Technical Report on the Toxicology and Carcinogenesis Studies of Elmiron. 2004. [August 13, 2010]. http://ntp​.niehs.nih​.gov/ntp/htdocs/LT_rpts/tr512.pdf. [PubMed: 15213766]
  424. Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine. 7th. Philadelphia, PA: W.B. Saunders Company; 2004.
  425. Nutt B. From the Other Side of the Stethoscope. 2007. [August 4, 2010]. http://www​.thelamfoundation​.org/patients​/living-with-lam/patient-storiesAll​.html/#Nutt.
  426. Nwaka S, Ridley RG. Virtual drug discovery and development for neglected diseases through public-private partnerships. Nature Reviews Drug Discovery. 2003;2:919–928. [PubMed: 14668812]
  427. Öfverholm A, Arkblad E, Skrtic S, Albertsson P, Shubbar E, Enerbäck C. Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene. Clinical Biochemistry. 2010;43(3):331–334. [PubMed: 19822137]
  428. OHRP (Office of Human Research Protections). OHRP Research Involving Children Frequently Asked Questions. 2008. [August 4, 2010]. http://www​.hhs.gov/ohrp/researchfaq.html.
  429. OIG (Office of the Inspector General, DHHS). Medicare Hospital Prospective Payment System: How DRG Rates Are Calculated and Updated. 2001. [August 4, 2010]. http://oig​.hhs.gov/oei​/reports/oei-09-00-00200.pdf.
  430. OIG. The Orphan Drug Act Implementation and Impact. 2001. [August 4, 2010]. http://oig​.hhs.gov/oei​/reports/oei-09-00-00380.pdf.
  431. OIG. Rare Diseases and Related Terms. [August 4, 2010]. Undated. http://rarediseases​.info​.nih.gov/RareDiseaseList.aspx.
  432. OOPD (Office of Orphan Product Development, FDA). Recipients of the FY09 Pediatric Device Consortia Grant Program Awards. 2009. [August 4, 2010]. http://www​.fda.gov/ForIndustry​/DevelopingProductsforRareDiseasesConditions​/WhomtoContactaboutOrphanProductDevelopment​/ucm184125.htm.
  433. OOPD. New Resource for Drug Developers: The Rare Disease Repurposing Database (RDRD). 2010. [September 24, 2010]. http://www​.fda.gov/ForIndustry​/DevelopingProductsforRareDiseasesConditions​/HowtoapplyforOrphanProductDesignation​/ucm216147.htm.
  434. ORDR (Office of Rare Diseases Research, NIH). Office of Rare Diseases Research (ORDR) Brochure. 2009. [August 4, 2010]. http://rarediseases​.info​.nih.gov/Wrapper​.aspx?src=asp/resources/ord_brochure​.html.
  435. Orphanet. Prevalence of Rare Diseases, Orphanet Report Series, No. 1. Nov, 2009. http://www​.orpha.net​/orphacom/cahiers/docs​/GB/Prevalence_of_rare​_diseases_by_alphabetical_list.pdf (this link is to a more recent version of the report than was used by the committee.
  436. Orphanet. About Orphanet: Mission. [August 4, 2010]. Undated a. http://www​.orpha.net​/consor/cgi-bin/Education_AboutOrphanet​.php?lng=EN.
  437. Orphanet. About Rare Diseases. [August 4, 2010]. Undated b. http://www​.orpha.net​/consor/cgi-bin/Education​_AboutRareDiseases.php?lng=EN.
  438. Outterson K, Kesselheim AS. How Medicare could get better prices on prescription drugs. Health Affairs. 2009;28(5):w832–841. [PubMed: 19643778]
  439. Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nature Genetics. 2009;41(1):101–105. [PubMed: 19043417]
  440. Pariser A. FDA regulation and review of small clinical trials. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  441. Patel CJ, Bhattacharya J, Butte AJ. An environment-wide association study (EWAS) on type 2 diabetes mellitus. Public Library of Science ONE. 2010;5(5):e10746. [PMC free article: PMC2873978] [PubMed: 20505766]
  442. Patterson M. Niemann-Pick Disease Type C. 2008. [August 3, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=npc.
  443. Pfizer. Pfizer Prepares for Voluntary Withdrawal of U.S. New Drug Application and for Discontinuation of Commercial Availability of Mylotarg® (press release). 2010. [August 3, 2010]. http://media​.pfizer.com​/files/news/press_releases​/2010/mylotarg​_discontinuation_062110.pdf.
  444. Pharmaceutical Forum, E.C. Improving access to orphan medicines for all affected EU citizens, Reference Document 3 in High Level Pharmaceutical Forum 2005-2008 Final Report. 2008. [August 3, 2010]. http://ec​.europa.eu/pharmaforum​/docs/pricing_orphans_en.pdf.
  445. PhRMA (Pharmaceutical Research and Manufacturers of America). Drug Discovery and Development: Understanding the R&D Process. Washington, DC: 2007. [August 27, 2010]. http://www​.phrma.org​/files/attachments/RD​%20Brochure%20022307.pdf.
  446. Pietzsch JB, Shluzas LA, Paté-Cornell ME, Yock PG, Linehan JH. Stage-gate process for the development of medical devices. Journal of Medical Devices. 2009;3(2)
  447. Pion G, Ionescu-Pioggia M. Bridging postdoctoral training and a faculty position: initial outcomes of the Burroughs Wellcome Fund Career Awards in the Biomedical Sciences. Academic Medicine. 2003;78(2):177–186. [PubMed: 12584096]
  448. PMC (Personalized Medicine Coalition). Comments on Development of Companion Diagnostics and the April 2005 Food and Drug Administration (“FDA”) Drug-Diagnostic Co-development Concept Paper. Dec 9, 2009. [August 4, 2010)]. http://www​.personalizedmedicinecoalition​.org/sites/default/files​/files/FDA%20CoDevelopment​%20FINAL%20Version%20PDF.pdf.
  449. Pober BR. Williams-Beuren syndrome. New England Journal of Medicine. 2010;362(3):239–252. [PubMed: 20089974]
  450. Pollack A. Cutting dosage of costly drug spurs a debate, New York Times. Mar 16, 2008.
  451. Pollack A. Pfizer deal signals a move into treating rare diseases, New York Times. Dec 2, 2009. [August 3, 2010]. http://query​.nytimes​.com/gst/fullpage.html?res​=9C0DE5D8153BF931A35751C1A96F9C8B63&sec​=&spon​=&pagewanted=print.
  452. Pollack A. After gene patent is invalidated, taking stock, New York Times. Mar 30, 2010. [August 20, 2010]. http://www​.nytimes.com​/2010/03/31/business/31gene.html.
  453. PRF (Progeria Research Foundation). The Progeria Research Foundation Timeline. 2008. [August 3, 2010]. http:​//progeriaresearch​.org/assets/files​/pdf/Timeline%20Nov%2007.pdf.
  454. Prosser LA, Kong CY, Rusinak D, Waisbren SL. Projected costs, risks, and benefits of expanded newborn screening for MCADD. Pediatrics. 2010;125:e286–e294. [PubMed: 20123779]
  455. Q1Medicare.com. PDP—Facts: 2010 Medicare Part D Plan Statistics—Region (State) and National. 2009. [August 3, 2010]. http://www​.q1medicare​.com/PartD-MedicarePartDPlanStatisticsState​.php?crit=National.
  456. Radcliffe S. BIO (Biotechnology Industry Organization). Statement to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. November 23; 2009. [August 2, 2010]. http://www​.bio.org/reg/20091123.pdf.
  457. Radley DC, Finkelstein SN, Stafford RS. Off-label prescribing among office-based physicians. Archives of Internal Medicine. 2006;166(9):1021–1026. [PubMed: 16682577]
  458. Rai AK, Reichman JH, Uhlir PF, Crossman C. Pathways across the valley of death: novel intellectual property strategies for accelerated drug discovery, Yale Journal of Health Policy, Law, and Ethics. 2008. [August 3, 2010]. pp. 52–89. http://scholarship​.law​.duke.edu/cgi/viewcontent​.cgi?article=2329&context=faculty_scholarship. [PubMed: 18564492]
  459. Rappaport B. Division director summary basis for recommendation of approval action, Summary Review, Application Number 125338 [Xiaflex]. Feb 1, 2010. [August 3, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/nda/2010/125338s000SumR.pdf.
  460. Ray T. FDA Chief Commits to Completing Rx/Dx Codevelopment Guidance This Year, Improving Regulatory Science. 2010. [August 3, 2010]. http://www​.genomeweb​.com/dxpgx/fda-chief-commits-completing-rxdx-codevelopment-guidance-year-improving-regulato.
  461. RegenceRx. Off-Label Use of FDA-Approved Drugs. 2010. [August 3, 2010]. http://blue​.regence.com​/trgmedpol/drugs/dru031.pdf.
  462. Reich MR. The global drug gap. Science. 2000;287(5460):1979–1981. [PubMed: 10755953]
  463. Reichert JM, Rosensweig CJ, Faden LB, Dewitz MC. Monoclonal antibody successes in the clinic. Nature Biotechnology. 2005;23:1073–1078. [PubMed: 16151394]
  464. Reiffen D, Ward MR. Generic drug industry dynamics. Review of Economics and Statistics. 2005;87(1):37–49.
  465. Richey EA, Lyons EA, Nebeker JR, Shankaran V, McKoy JM, Luu TH, Nonzee N, et al. Accelerated approval of cancer drugs: improved access to therapeutic breakthroughs or early release of unsafe and ineffective drugs? Journal of Clinical Oncology. 2009;27(26):4398–4405. [PMC free article: PMC2744277] [PubMed: 19636013]
  466. Ridley D. Business of Drug Discovery. 2009. [August 3, 2010]. http://gspp​.berkeley​.edu/iths/RDStrategies/lecture4​.ppt#425,1,BusinessofDrugDiscovery.
  467. Ridley RG. Medical need, scientific opportunity and the drive for antimalarial drugs. Nature. 2002;415(6872):686–693. [PubMed: 11832957]
  468. Ridley RG. Product R&D for neglected diseases. Twenty-seven years of WHO/TDR experiences with public-private partnerships, EMBO Reports. 2003. [August 3, 2010]. Spec No: S43-46. http://www​.ncbi.nlm.nih​.gov/pmc/articles​/PMC1326445/pdf/4-embor858.pdf. [PMC free article: PMC1326445] [PubMed: 12789406]
  469. Rinaldi A. Adopting an orphan. EMBO Reports. 2005;6(6):507–510. [PMC free article: PMC1369105] [PubMed: 15940282]
  470. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066–1073. [PubMed: 2475911]
  471. Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing, Science. 2010. [August 3, 2010]. http://www​.sciencemag​.org/cgi/rapidpdf/science.1186802v1.pdf. [PMC free article: PMC3037280] [PubMed: 20220176]
  472. Roca R. Summary review for regulatory action, Summary Review, Application Number 22-352 [Colcrys / colchicine]. Jul 30, 2009. [August 19, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/nda/2009/022352s000_SumR.pdf.
  473. Rockoff RD. An old gout drug gets new life and a new price, riling patients, Wall Street Journal. Apr 12, 2010. [August 27, 2010]. http://online​.wsj.com​/article/NA_WSJ_PUB​:SB10001424052748703630404575053303739829726.html.
  474. Rosebraugh C. Approval Letter to Auxilium Pharmaceuticals, Inc. for BLA 125338/0 [Xiaflex]. Feb 2, 2010. [August 20, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/appletter/2010/125338s000ltr.pdf.
  475. Rosecrans H. Understanding the premarket notification (510(k)) process. Presentation at Public Health Effectiveness of the FDA 510(k) Clearance Process; Washington, DC. February 18. 2010.
  476. Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet Journal of Rare Diseases. 2007;2(1):21. [PMC free article: PMC1867813] [PubMed: 17456235]
  477. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. Journal of Pediatrics. 1998;132(4):589–595. [PubMed: 9580754]
  478. Rubinstein YR, Groft SC, Barteck R, Brown K, Christensen RA, Collier E, Farber A, et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemporary Clinical Trials. 2010;31(5):394–404. [PMC free article: PMC2930109] [PubMed: 20609392]
  479. SACGHS (Secretary's Advisory Committee on Genetics, Health, and Society). US System of Oversight of Genetic Testing. 2008. [August 3, 2010]. http://oba​.od.nih.gov​/oba/SACGHS/reports​/SACGHS_oversight_report.pdf. [PMC free article: PMC2873211] [PubMed: 20490368]
  480. Sands S. IFib. Living with DMD. May 19, 2010. [August 20, 2010]. http://dmdpioneers​.org​/home/living-with-dmd/ifib.
  481. Sardiello MP, di Ronza A, Medina DL, Valenza M, Gennarino VA, Malta CD, Donaudy F, et al. A gene network regulating lysosomal biogenesis and function. Science. 2009;325(5939):473–477. [PubMed: 19556463]
  482. Sasinowski F. Statement of the National Organization for Rare Disorders (NORD) at the U.S. Food and Drug Administration Part 15 Public Hearing: Considerations Regarding FDA Review and Regulation of Articles for the Treatment of Rare Disease; Silver Spring, MD. June 29; 2010. [August 3, 2010]. http://www​.rarediseases​.org/files/NORD-statement-FDA-hearing-06-29-10.pdf.
  483. Sauer M, Grewal S, Peters C. Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies. Klinische Pädiatrie. 2004;216:163–168. [PubMed: 15175961]
  484. Sawyers CL. Even better kinase inhibitors for chronic myeloid leukemia. New England Journal of Medicine. 2010;362:2314–2315. [PubMed: 20525994]
  485. Schact WH. The Bayh-Dole Act: Selected Issues in Patent Policy and the Commercialization of Technology, Congressional Research Service Report RL32076. 2007. [September 2, 2010]. http://fpc​.state.gov​/documents/organization/96463.pdf.
  486. Schact WH, Thomas JR. Follow-on Biologics: Intellectual Property and Innovation Issues, Congressional Research Service Report RL33901. 2009. [August 3, 2010]. http://assets​.opencrs​.com/rpts/RL33901_20090803.pdf.
  487. Schadt EE, Sachs A, Friend S. Embracing complexity, inching closer to reality. Science Signaling. 2005;295:pe40. [PubMed: 16077086]
  488. Schadt EE, Lamb J, Yang X, Zhu J, Edwards S, Guhathakurta D, Sieberts SK, et al. An integrative genomics approach to infer causal associations between gene expression and disease. Nature Genetics. 2005;37(7):710–717. [PMC free article: PMC2841396] [PubMed: 15965475]
  489. Scheinberg IH, Walshe JM. Orphan Diseases and Orphan Drugs. Manchester, UK: Manchester University Press; 1986.
  490. Schickedanz AD, Herdman RD. Direct-to-consumer genetic testing: the need to get retail genomics right. Clinical Pharmacology and Therapeutics. 2009;86(1):17–20. [PubMed: 19536118]
  491. Schimke RN, Collins DL, Stolle CA. Von Hippel-Lindau Syndrome. 2009. [August 3, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=vhl#vhl​.grID1694.
  492. Schmitz J, Poll LW, vom Dahl S. Therapy of adult Gaucher disease. Haematologica. 2007;92(2):148–152. [PubMed: 17296562]
  493. Schofield PN, Bubela T, Weaver T, Portilla L, Brown SD, Hancock JM, Einhorn D, et al. Post-publication sharing of data and tools. Nature. 2009;461:171–173. [PMC free article: PMC6711854] [PubMed: 19741686]
  494. Schulte F, Donovan D. Drug earning millions despite “orphan” label: Status granted before law increased use of “bupe.” Baltimore Sun. 2007
  495. Schultz D. FDA public health notification: life-threatening complications associated with recombinant human bone morphogenetic protein in cervical spine fusion, FDA, Alerts and Notices (Medical Devices). Jul 1, 2008. [August 12, 2010]. http://www​.fda.gov/MedicalDevices​/Safety​/AlertsandNotices/PublicHealthNotifications/UCM062000.
  496. Scriver CR, Lee PJ. The last day of the past is the first day of the future: transitional care for genetic patients. American Journal of Medicine. 2004;117(8):615–617. [PubMed: 15465513]
  497. Scriver CR, Treacy EP. Is there treatment for “genetic” disease? Molecular Genetics and Metabolism. 1999;68(2):93–102. [PubMed: 10527662]
  498. Segal JB, Strouse JJ, Beach MC, Haywood C, Witkop C, Park H, Wilson RF, et al. Evidence Report/Technology Assessment: Hydroxyurea for the Treatment of Sickle Cell Disease, AHRQ Publication No 08-E007. 2008. [August 3, 2010]. http://www​.ahrq.gov/downloads​/pub/evidence​/pdf/hydroxyurea/hydroxscd.pdf. [PMC free article: PMC4781604] [PubMed: 18457478]
  499. Seoane-Vazquez E, Rodriguez-Monguio R, Szeinbach SL, Visaria J. Incentives for orphan drug research and development in the United States, Orphanet Journal of Rare Diseases. 2008. [August 3, 2010]. http://www​.ojrd.com/content​/pdf/1750-1172-3-33.pdf. [PMC free article: PMC2631478] [PubMed: 19087348]
  500. Shah RR. Mehta A, Beck M, Sunder-Plassmann G, editors. Regulatory framework for the treatment of orphan diseases, Fabry Disease: Perspectives from 5 Years ofFOS. Oxford UK: Oxford PharmaGenesis; 2006. [August 3, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=fabry&part=A745. [PubMed: 21290683]
  501. Sing CF, Stengard JH, Kardia SLR. Genes, environment, and cardiovascular disease. Arteriosclerosis, Thrombosis, and Vascular Biology. 2003;23(7):1190–1196. [PubMed: 12730090]
  502. Smith VK, Gifford K, Ellis E, Rudowitz R, Watts MOM, Marks C. The Crunch Continues: Medicaid Spending, Coverage and Policy in the Midst of a Recession. 2009. [August 3, 2010]. http://www​.kff.org/medicaid/upload/7985​.pdf.
  503. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, et al. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. New England Journal of Medicine. 2010;362(3):206–216. [PMC free article: PMC3108191] [PubMed: 20089971]
  504. So AD, Stewart E. Appendix F: Sharing knowledge for global health, The US Commitment to Global Health: Recommendations for the Public and Private Sectors. Institute of Medicine. Washington, DC: The National Academies Press; 2009. [August 24, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=nap12642&part​=a2001902dddd00191#a2001902dnnn00053. [PubMed: 20662131]
  505. Solomon MD, Goldman DP, Joyce GF, Escarce JJ. Cost sharing and the initiation of drug therapy for the chronically ill. Archives of Internal Medicine. 2009;169(8):740–748. [PMC free article: PMC3875311] [PubMed: 19398684]
  506. Sotos JG. Zebra Cards: An Aid to Obscure Diagnoses. Philadelphia, PA: American College of Physicians; 1989.
  507. Sox HC. Evaluating off-label uses of anticancer drugs: time for a change. Annals of Internal Medicine. 2009;150(5):353–354. [PubMed: 19221369]
  508. Spiration Inc. CMS Approves New Technology Add-on Payment for Spiration® IBV Valve System (press release) August 3. 2009. [August 3, 2010]. http://www​.spiration​.com/downloads/NTAPPressReleaseFinal.pdf.
  509. SSA (Social Security Administration). Compassionate Allowances. 2010. [August 3, 2010]. http://www​.socialsecurity​.gov/compassionateallowances/
  510. SSA. Medicare. 2010. [August 3, 2010]. http://www​.ssa.gov/pubs/10043.pdf.
  511. Statistics Bureau (Japan). Statistical Handbook of Japan: Chapter 2 Population. 2008. [August 3, 2010]. http://www​.stat.go.jp​/english/data/handbook/c02cont.htm.
  512. Stein R. FDA considers revoking approval of Avastin for advanced breast cancer, Washington Post. Aug 16, 2010. [September 1, 2010]. http://www​.washingtonpost​.com/wp-dyn/content​/article/2010/08/15/AR2010081503466​.html.
  513. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nature Medicine. 2010;16(2):198–204. E-pub January 24. [PubMed: 20098431]
  514. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. Journal of the American Medical Association. 2001;285:2216–2222. [PubMed: 11325323]
  515. Steiner R. Sitosterolemia. Mar 26, 2009. [August 3, 2010]. http://emedicine​.medscape​.com/article/948892-overview.
  516. Steiner RD, Huhn SL, Koch T, Al-Uzri A, Guillaume G, Sutcliffe T, Vogel H, Selden N. CNS transplantation of purified human neural stem cells in infantile and late-infantile neuronal ceroid lipofuscinoses: summary of the Phase I trial. Abstracts for the 11th International Congress of Inborn Errors of Metabolism, Molecular Genetics and Metabolism. 1-2. Vol. 98. 2009. p. 76 (A422).
  517. Stoffels P. Collaborative innovation for the post-crisis world, Boston Globe. Feb 2, 2009. [August 3, 2010]. http://www​.boston.com​/bostonglobe/editorial_opinion​/oped/articles​/2009/02/02/collaborative​_innovation​_for_the_post_crisis_world?mode=PF.
  518. Stossel TP. The discovery of statins, Cell. 2008. [August 11, 2010]. pp. 903–905. http://download​.cell​.com/pdf/PIIS0092867408011276​.pdf?intermediate=true. [PubMed: 18805080]
  519. Stratman RC, Flynn JD, Hatton KW. Malignant hyperthermia: a pharmacogenetic disorder. Orthopedics. 2009;32:835. [PubMed: 19902883]
  520. Straube BM. Update: CMS and genetic applications in health care. Presentation to SACGHS Meeting; Washington, DC. March 12; 2009. [August 3, 2010]. http://oba​.od.nih.gov​/oba/SACGHS/meetings​/March2009/Straube_slides.pdf.
  521. Sung NS, Crowley WF Jr, Genel M, Salber P, Sandy L, Sherwood LM, Johnson SB, et al. Central challenges facing the national clinical research enterprise. Journal of the American Medical Association. 2003;289(10):1278–1287. [PubMed: 12633190]
  522. Suthram S, Dudley JT, Chiang AP, Chen R, Hastie TJ, Butte AJ. Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets, PLoS Computational Biology. 2010. [August 3, 2010]. p. e1000662. http://www​.ploscompbiol​.org/article/info%3Adoi%2F10​.1371%2Fjournal.pcbi.1000662. [PMC free article: PMC2816673] [PubMed: 20140234]
  523. Suzuki M, Wlers K, Brooks EB, Grels KD, Halnes K, Klein-Gittleman MS, Olson J, et al. Initial validation of a novel protein biomarker for active pediatric lupus nephritis. Pediatric Research. 2009;65(5):530–536. [PMC free article: PMC2737257] [PubMed: 19218887]
  524. Swann JP. The history of the FDA, The Food and Drug Administration. Hickman MA, editor. Hauppauge, NY: Nova Science Publishers; 2003.
  525. Swanson J. Companion diagnostics take off, Genome Technology. 2009. [August 3, 2010]. http://www​.genomeweb​.com/dxpgx/companion-diagnostics-take.
  526. Tabor HK, Bamshad M. Exome sequencing and rare diseases. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  527. TDR (Special Programme for Research and Training in Tropical Diseases). BL3—drug discovery on fast track says expert advisors, TDRnews. May, 2008. [August 20, 2010]. http://apps​.who.int/tdr​/svc/publications​/tdrnews/issue-80/drug-discovery-fast-track.
  528. Tejada P. Towards an International Standard of Coding and Classification of Rare Diseases. 2009. [August 3, 2010]. http://archive​.eurordis​.org/imprimer.php3?id_article=2014.
  529. Terry SF. Written statement for Subcommittee on Agriculture, Rural Development, Food and Drug Administration, and Related Agencies, U.S. House of Representatives. Mar 18, 2009. [August 3, 2010]. http://www​.geneticalliance​.org/statements.terry.
  530. Terry SF. Accelerate medical breakthroughs by ending disease earmarks. Nature Reviews Genetics. 2010;11:310–311. [PubMed: 20414986]
  531. Thaul S. FDA Fast Track and Priority Review Programs, Congressional Research Service RS22814. 2008. [August 27, 2010]. http:​//nationalaglawcenter​.org/assets/crs/RS22814.pdf.
  532. Therrell B, Lorey F, Eaton R, Frazier D, Hoffman G, Boyle C, Green D, et al. Impact of expanded newborn screening, Morbidity and Mortality Weekly Report. 2008. [August 3, 2010]. pp. 1012–1015. http://www​.cdc.gov/mmwr​/preview/mmwrhtml/mm5737a2.htm. [PubMed: 18802410]
  533. Thomson G, Marthandan N, Hollenbach JA, Mack SJ, Erlich HA, Single RM, Waller MJ, et al. Sequence feature variant type (sfvt) analysis of the hla genetic association in juvenile idiopathic arthritis. Pacific Symposium on Biocomputing. 2010;15:359–370. [PMC free article: PMC2958177] [PubMed: 19908388]
  534. Tillman DB. Approval letter for Medtronic Melody® Transcatheter Pulmonary Valve and Medtronic Ensemble® Transcatheter Valve Delivery System (H080002). Jan 25, 2010. [August 19, 2010]. http://www​.accessdata​.fda.gov/cdrh_docs/pdf8/H080002a.pdf.
  535. Tillman DB, Gardner S. Letter to Institute of Medicine committee on postmarket surveillance of pediatric medical devices, September 27. As cited in Safe Medical Devices for Children. Washington, DC: The National Academies Press; 2004. 2006.
  536. Tollefson L. Letter to Donald M. Poretz, President, Infectious Diseases Society of America Concerning the Orphan Drug Act. Oct 15, 2008. [August 24, 2010]. http://www​.hivma.org​/WorkArea/DownloadAsset.aspx?id=16139.
  537. Torreele E, Usdin M, Chirac P. A needs-based pharmaceutical R&D agenda for neglected diseases. Paper prepared for the WHO Commission on Intellectual Property Rights, Innovation and Public Health. Version 31; July; 2004. [September 7, 2010]. http://www​.who.int/intellectualproperty​/topics​/research/Needs​%20based%20R&D​%20for%20neglected​%20diseases%20Els%20Pierre%20Martine​.pdf.
  538. Trafton A. Revolutionizing medicine one chip at a time, MIT News. Mar 9, 2010.
  539. Travis J. Science by the masses. Science. 2008;319(5871):1750–1752. [PubMed: 18369115]
  540. Trikalinos TA, Chung M, Lau J, Ip S. Systematic review of screening for bilirubin encephalopathy in neonates. Pediatrics. 2009;124(4):1162–1171. [PubMed: 19786450]
  541. Tse T, Williams RJ, Zarin DA. Reporting “basic results” in ClinicalTrials.gov. Chest. 2009;136(1):295–303. [PMC free article: PMC2821287] [PubMed: 19584212]
  542. Tufts Center for the Study of Drug Development. U.S. orphan product designations more than doubled from 2000-02 to 2006-08. Impact Report. 2010;12(1)
  543. Ulatowski T. Warning Letter to William Birdsall, Chief Executive Officer, MicroMed Technology, Inc RE: DeBakey VAD Child. 2009. [August 19, 2010]. http://www​.fda.gov/ICECI​/EnforcementActions​/WarningLetters/ucm195995.htm.
  544. Unger EF, Thompson AM, Blank MJ, Temple R. Erythropoiesis-stimulating agents—time for a reevaluation. New England Journal of Medicine. 2010;362(3):189–192. [PubMed: 20054037]
  545. UNOS (United Network for Organ Sharing). Financing a Transplant. 2010. [August 3, 2010]. http://www​.transplantliving​.org/beforethetransplant​/finance/costs.aspx.
  546. U.S. Census Bureau. Monthly Estimates of the United States Population: April 1, 1980 to July 1, 1999, with Short-Term Projections to November 1, 2000. 2001. [August 3, 2010]. http://www​.census.gov​/population/estimates​/nation/intfile1-1.txt.
  547. U.S. Census Bureau 2009Annual Estimates of the Resident Population for the United States, Regions, States, and Puerto Rico: April 1, 2000 to July 1, 2009 (NST-EST2009-01). Washington, DC: http://www​.census.gov​/popest/states/tables/NST-EST2009-01​.xlsAugust 3, 2010.
  548. U.S. Congress, Senate Committee on Appropriations. Report on S. 1710 Departments of Labor, Health and Human Services, and Education, and Related Agencies Appropriation Bill. Washington, DC: 2008.
  549. UTHSCSA (University of Texas Health Science Center San Antonio). Titanium Rib Becomes 1st New FDA-Approved Spine Deformity Treatment in 40 Years (press release). 2004. [August 3, 2010]. http://www​.uthscsa.edu​/hscnews/singleformat2.asp?newID=1148.
  550. Valeo T. New molecule found to cross the blood-brain barrier: reported safe for patients with progressive glioma, Neurology Today. 2010. [August 3, 2010]. pp. 12–13. http://journals​.lww.com​/neurotodayonline​/Fulltext/2010/01070​/New_Molecule_Found_to​_Cross_the_Blood_Brain.8.aspx.
  551. Van Eyk JE. Development of biomarkers. Presentation to IOM Committee on Accelerating Rare Diseases Research and Orphan Product Development; Washington, DC. February 4. 2010.
  552. VCRC (Vasculitis Clinical Research Consortium). What Is the VCRC? 2010. [August 3, 2010]. http:​//rarediseasesnetwork​.epi.usf.edu/vcrc/about/index.htm.
  553. Villa S, Compagni A, Reich MR. Orphan drug legislation: lessons for neglected tropical diseases, International Journal of Health Planning and Management. 2008. [August 3, 2010]. http://www​.wcfia.harvard​.edu/sites/default​/files/Reich_Orphan.pdf. [PubMed: 18435430]
  554. Villarreal MA. Orphan Drug Act: Background and Proposed Legislation in the 107th Congress. Congressional Research Service Report RS20971; 2001. [August 3, 2010]. http://www​.policyarchive​.org/handle/10207/bitstreams/3490​.pdf.
  555. Vodovotz Y, Csete M, Bartels J, Chang S, An G. Translational systems biology of inflammation. Public Library of Science Journal Computational Biology. 2008;4(4) [PMC free article: PMC2329781] [PubMed: 18437239]
  556. Wade N. Disease cause is pinpointed with genome, New York Times. 2010. [August 3, 2010]. http://www​.nytimes.com​/2010/03/11/health/research/11gene​.html.
  557. Wagner JA, Prince M, Wright EC, Ennis MM, Kochan J, Nunez DJR, Schneider B, et al. The biomarkers consortium: practice and pitfalls of open-source precompetitive collaboration. Clinical Pharmacology and Therapeutics. 2010;87:539–542. [PubMed: 20407460]
  558. Walpoth BH, Bowlin GL. The daunting quest for a small diameter vascular graft. Expert Review of Medical Devices. 2005;2(6):647–651. [PubMed: 16293089]
  559. Wang D, Wood T, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clinical Chemistry. 2007;53:137–140. [PMC free article: PMC2497000] [PubMed: 17082248]
  560. Wang SS. Drug makers will share data from failed Alzheimer's trials, Wall Street Journal. Jun 11, 2010. [August 3, 2010]. http://online​.wsj.com​/article/SB10001424052748703627704575298783153884208.html.
  561. Wasserstein JN, Karst KR. Orphan Drug Designation Not Sacrosanct—FDA Revokes Orphan Designation for TheraCLEC for EPI, but Other Exclusivity Issues Remain. Jul 11, 2007. [August 3, 2010]. http://www​.fdalawblog​.net/fda_law_blog_hyman_phelps​/2007/07/fda-revokes-alt.html.
  562. Watson MS, Mann Marie Y, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system. Genetics in Medicine. 2006;8(5)
  563. Waxman HJ. Orphan Drugs. [August 3, 2010)]. Undated. http://waxman​.house.gov​/IssueList/Internal/orphandrugs.htm.
  564. Weiss KD. Approval Letter to BioMarin Pharmaceutical, Incorporated for BLA 125117 [Galsulfase / Naglazyme]. May 31, 2005. [August 23, 2010]. http://www​.accessdata​.fda.gov/drugsatfda_docs​/appletter/2005/125117_0000_ltr.pdf.
  565. Wellman-Labadie O, Zhou Y. The U.S. Orphan Drug Act: rare disease research stimulator or commercial opportunity? Health Policy. 2009;95(2-3):216–228. [PubMed: 20036435]
  566. Wellmark Blue Cross Blue Shield. Humanitarian Use Devices: Medical Policy 100114. 2009. [August 3, 2010]. http://www​.wellmark.com​/Provider/MedPoliciesAndAuthorizations​/MedicalPolicies/Policies​/Humanitarian_Use_Devices.aspx.
  567. Whalen J. Novartis shifts focus to rare diseases. Wall Street Journal. 2009 December 21
  568. WHO (World Health Organization). Global Tuberculosis Control, Epidemiology. 2009. [August 3, 2010]. http://www​.who.int/tb​/publications/global_report​/2009/pdf/chapter1.pdf.
  569. WHO. Leishmaniasis: Burden of Disease. 2009. [August 3, 2010]. http://www​.who.int/leishmaniasis​/burden/en/
  570. Wolf B. Biotinidase Deficiency [Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency]. 2008. [August 3, 2010]. http://www​.ncbi.nlm.nih​.gov/bookshelf/br​.fcgi?book=gene&part=biotin.
  571. Wolfe JH. Gene therapy in large animal models of human genetic diseases. Institute for Laboratory Animal Research Journal. 2009;50(2):107–111. [PMC free article: PMC2859173] [PubMed: 19293455]
  572. Wolfe LC. Chronic granulomatous disease: treatment and medication, eMedicine. Apr 16, 2010. [August 11, 2010]. http://emedicine​.medscape​.com/article/956936-treatment.
  573. Wolff AC. The controversy: perspectives on HER2 testing for breast cancer, ASCO News & Forum. 2009. [August 3, 2010]. http://www​.ascoconnection​.org/LinkClick.aspx?fileticket​=gN-fxKFh0xA​%3d&tabid=78.
  574. Wong HR, Cvijanovich N, Allen GL, Lin R, Anas N, Meyer K, Freishtat RJ, et al. Genomic expression profiling across the pediatric systemic inflammatory response syndrome, sepsis, and septic shock spectrum. Critical Care Medicine. 2009;37(5):1558–1566. [PMC free article: PMC2747356] [PubMed: 19325468]
  575. Wong HS, Wang HQ. Constructing the gene regulation-level representation of microarray data for cancer classification. Journal of Biomedical Informatics. 2008;41(1):95–105. E-pub April 11, 2007. [PubMed: 17499026]
  576. Wood AJJ. A proposal for radical changes in the drug-approval process. New England Journal of Medicine. 2006;355(6):618–623. [PubMed: 16899784]
  577. Woodward ER, Maher ER. Von Hippel-Lindau disease and endocrine tumor susceptibility, Endocrine-Related Cancer. 2006. [August 20, 2010]. pp. 415–425. http://www​.ncbi.nlm.nih​.gov/pubmed/16728571?dopt=Abstract. [PubMed: 16728571]
  578. Woolf SH. The meaning of translational research and why it matters. Journal of the American Medical Association. 2008;299(2):211–213. [PubMed: 18182604]
  579. Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB. beta-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Molecular Genetics and Metabolism. 2008;93(2):190–194. [PubMed: 17964839]
  580. Yong G, Salinger MH, Feldman TE. Device closure for PFO: the data and devices associated with percutaneous PFO closure. Cardiac Interventions Today. 2007 June:32–40.
  581. Zacks R. Artificial heart finally ready for market? Abiomed's potential “billion-dollar monopoly.”, xconomy. Jan 23, 2008. [August 3, 2010]. http://www​.xconomy.com​/2008/01/23/artificial-heart-finally-ready-for-market-abiomeds-potential-billion-dollar-monopoly/
  582. Zenios S, Makower J, Yock P, Brinton TJ, Kumar UN, Denend L, Krummel TM. Biodesign: The Process of Innovating Medical Technologies. New York: Cambridge University Press; 2010.
  583. Zhang FR, Huang W, Chen SM, Sun LD, Liu H, Li Y, Cui Y, et al. Genomewide association study of leprosy. New England Journal of Medicine. 2009;361(27):2609–2618. [PubMed: 20018961]
  584. Zielinska E. Team of rivals. TheScientist.com. 2009;23(11):62.
  585. Zipes DP, Libby P, Bonow RO, Braunwald E, editors. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8. St. Louis, MO: W.B. Saunders; 2007.
  586. Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Human Genetics. 2009;126(2):247–253. [PubMed: 19390864]
Copyright © 2010, National Academy of Sciences.
Bookshelf ID: NBK56192

Views

  • PubReader
  • Print View
  • Cite this Page
  • PDF version of this title (2.2M)

Related information

  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...