rare diseases

Summary

Summary: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.

Top Publications

  1. pmc Estimating the budget impact of orphan medicines in Europe: 2010 - 2020
    Carina Schey
    GMAS, Chiswick Business Park, London, W4 5YA, UK
    Orphanet J Rare Dis 6:62. 2011
  2. ncbi Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
    Ana Rath
    Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 96 rue Didot, Paris, France
    Hum Mutat 33:803-8. 2012
  3. pmc Pricing and reimbursement of orphan drugs: the need for more transparency
    Steven Simoens
    Research Centre for Pharmaceutical Care and Pharmaco economics, Katholieke Universiteit Leuven, O and N2 bus 521, Herestraat 49, 3000 Leuven, Belgium
    Orphanet J Rare Dis 6:42. 2011
  4. pmc The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
    William A Gahl
    NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA
    Genet Med 14:51-9. 2012
  5. pmc Clinical research for rare disease: opportunities, challenges, and solutions
    Robert C Griggs
    Department of Neurology, University of Rochester, 1351 Mt Hope Avenue, Suite 203, Rochester, NY 14620, USA
    Mol Genet Metab 96:20-6. 2009
  6. ncbi The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome
    Kathrin Roll
    Hamburg Center for Health Economics, University of Hamburg, Hamburg, Germany
    Health Policy 105:119-27. 2012
  7. ncbi A framework for applying unfamiliar trial designs in studies of rare diseases
    Samir Gupta
    Department of Medicine, University of Toronto, Toronto, Ontario M5B 1W8, Canada
    J Clin Epidemiol 64:1085-94. 2011
  8. pmc Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?
    Wills Hughes-Wilson
    EU Committee of Experts on Rare Diseases EUCERD, Global Public Policy and Government Relations, SOBI Swedish Orphan Biovitrum, Tomtebodvägen, 23A, Solna, Sweden
    Orphanet J Rare Dis 7:74. 2012
  9. ncbi The US Orphan Drug Act: rare disease research stimulator or commercial opportunity?
    Olivier Wellman-Labadie
    Division of Dermatology, Department of Medicine, University of British Columbia, 835 West 10th Ave, Vancouver, BC, Canada
    Health Policy 95:216-28. 2010
  10. pmc The orphan disease networks
    Minlu Zhang
    Department of Computer Science, University of Cincinnati, Cincinnati, OH 45229, USA
    Am J Hum Genet 88:755-66. 2011

Detail Information

Publications306 found, 100 shown here

  1. pmc Estimating the budget impact of orphan medicines in Europe: 2010 - 2020
    Carina Schey
    GMAS, Chiswick Business Park, London, W4 5YA, UK
    Orphanet J Rare Dis 6:62. 2011
    ..success of orphan drug legislation in Europe has resulted in an increasing number of licensed medicines for rare diseases, and many more yet unlicensed products have received orphan drug designation...
  2. ncbi Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
    Ana Rath
    Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 96 rue Didot, Paris, France
    Hum Mutat 33:803-8. 2012
    ..ORPHANET (www.orpha.net) is a multilingual information portal on rare diseases and orphan drugs...
  3. pmc Pricing and reimbursement of orphan drugs: the need for more transparency
    Steven Simoens
    Research Centre for Pharmaceutical Care and Pharmaco economics, Katholieke Universiteit Leuven, O and N2 bus 521, Herestraat 49, 3000 Leuven, Belgium
    Orphanet J Rare Dis 6:42. 2011
    ..Such an approach should be targeted at demonstrating the relative effectiveness, cost-effectiveness and economic viability of orphan drugs with a view to informing pricing and reimbursement decisions...
  4. pmc The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
    William A Gahl
    NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA
    Genet Med 14:51-9. 2012
    ..This report describes the National Institutes of Health Undiagnosed Diseases Program, details the Program's application of genomic technology to establish diagnoses, and details the Program's success rate during its first 2 years...
  5. pmc Clinical research for rare disease: opportunities, challenges, and solutions
    Robert C Griggs
    Department of Neurology, University of Rochester, 1351 Mt Hope Avenue, Suite 203, Rochester, NY 14620, USA
    Mol Genet Metab 96:20-6. 2009
    Over 7000 rare diseases, each <200,000 US residents, affect nearly 30 million people in the United States. Furthermore, for the 10% of people with a rare disease and for their families, these disorders no longer seem rare...
  6. ncbi The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome
    Kathrin Roll
    Hamburg Center for Health Economics, University of Hamburg, Hamburg, Germany
    Health Policy 105:119-27. 2012
    ....
  7. ncbi A framework for applying unfamiliar trial designs in studies of rare diseases
    Samir Gupta
    Department of Medicine, University of Toronto, Toronto, Ontario M5B 1W8, Canada
    J Clin Epidemiol 64:1085-94. 2011
    b>Rare diseases may be difficult to study through conventional research methods, but are amenable to study through certain uncommonly used designs...
  8. pmc Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?
    Wills Hughes-Wilson
    EU Committee of Experts on Rare Diseases EUCERD, Global Public Policy and Government Relations, SOBI Swedish Orphan Biovitrum, Tomtebodvägen, 23A, Solna, Sweden
    Orphanet J Rare Dis 7:74. 2012
    ..The authors believe that this could, therefore, facilitate the approach for all stakeholders...
  9. ncbi The US Orphan Drug Act: rare disease research stimulator or commercial opportunity?
    Olivier Wellman-Labadie
    Division of Dermatology, Department of Medicine, University of British Columbia, 835 West 10th Ave, Vancouver, BC, Canada
    Health Policy 95:216-28. 2010
    ..This study investigates issues associated with the United States Orphan Drug Act...
  10. pmc The orphan disease networks
    Minlu Zhang
    Department of Computer Science, University of Cincinnati, Cincinnati, OH 45229, USA
    Am J Hum Genet 88:755-66. 2011
    ..Surprisingly, we observed that the wiring of the gene-based and other feature-based OD networks are largely different; this suggests that the relationship between ODs cannot be fully captured by the gene-based network alone...
  11. ncbi Care for patients with ultra-rare disorders
    Raoul C M Hennekam
    Department of Pediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Eur J Med Genet 54:220-4. 2011
    ..The role of individuals with ultra-rare disorders themselves, or their families, in obtaining access to all advantages modern medicine can provide will therefore be large...
  12. ncbi Rare diseases, orphan drugs and their regulation: questions and misconceptions
    Erik Tambuyzer
    Genzyme, Ikaroslaan 53, B 1930, Zaventem, Belgium
    Nat Rev Drug Discov 9:921-9. 2010
    Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for industry to develop drugs for these diseases, known as orphan drugs...
  13. pmc Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
    Ralph Gräsbeck
    Biochemistry Unit, Minerva Foundation Institute for Medical Research, Biomedicum Helsinki, FI 00290 Helsinki, Finland
    Orphanet J Rare Dis 1:17. 2006
    ..In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency...
  14. ncbi Networking for rare diseases: a necessity for Europe
    S Ayme
    INSERM, Orphanet Paris, Paris, France
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50:1477-83. 2007
    Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined...
  15. ncbi Perspectives for improving the evaluation and access of therapies for rare lung diseases in Europe
    Maurizio Luisetti
    Department of Molecular Medicine, Section of Pneumology, University of Pavia, IRCCS San Matteo Hospital Foundation, Pavia, Italy
    Respir Med 106:759-68. 2012
    ....
  16. ncbi Drugs for rare diseases: influence of orphan designation status on price
    Eline Picavet
    Research Centre for Pharmaceutical Care and Pharmaco economics, Faculty of Pharmaceutical Sciences, Katholieke Universiteit Leuven, Leuven, Belgium
    Appl Health Econ Health Policy 9:275-9. 2011
    ..In order to gain full insight into orphan drug pricing mechanisms, future research should focus on collecting information about the different factors influencing orphan drug pricing...
  17. doi Clinical trials of orphan medicines
    Brendan M Buckley
    European Centre for Clinical Trials in Rare Diseases, University College Cork, Cork, Ireland
    Lancet 371:2051-5. 2008
  18. ncbi When everyone is an orphan: against adopting a U.S.-styled orphan drug policy in Canada
    Matthew Herder
    Health Law Institute, Faculties of Medicine and Law, Dalhousie University, Halifax, Nova Scotia, Canada
    Account Res 20:227-69. 2013
    Putting aside whether diseases that affect only small numbers of people ("rare diseases") should be prioritized over diseases that are otherwise orphaned, in this article I argue that a new approach to rare, orphan diseases is needed...
  19. ncbi Rare diseases social epidemiology: analysis of inequalities
    Anna Kole
    EURORDIS, Platforme Maladies Rares, 96 rue Didot, 75014, Paris, France
    Adv Exp Med Biol 686:223-50. 2010
    ..Three surveys and their subsequent analysis, conducted by the European Organisation for Rare Diseases (EURORDIS), a non-governmental patient driven alliance of European patient organisations, demonstrate several ..
  20. ncbi Rare diseases epidemiology research
    Manuel Posada de la Paz
    Instituto de Investigación en Enfermedades Raras IIER, Instituto de Salud Carlos III and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain
    Adv Exp Med Biol 686:17-39. 2010
    b>Rare Diseases Epidemiology is a novel action field still largely unexplored. However, Rare Diseases is a topic of growing interest at world level...
  21. ncbi Orphan drug development: an economically viable strategy for biopharma R&D
    Kiran N Meekings
    Thomson Reuters Life Sciences Consulting, The Johnson Building, 77 Hatton Garden, London EC1N 8JS, UK
    Drug Discov Today 17:660-4. 2012
    ..potential of orphan drugs is as great as for non-orphan drugs, even though patient populations for rare diseases are significantly smaller...
  22. pmc The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases
    Brigitta E Miyamoto
    Kakkis EveryLife Foundation For Rare Diseases, 77 Digital Drive, Suite 210, Novato, CA 94949, USA
    Orphanet J Rare Dis 6:49. 2011
    Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models...
  23. ncbi The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example
    Angela P Black
    International Dravet syndrome Epilepsy Action League, Deale, Maryland, USA
    Epilepsia 52:102-4. 2011
    ..evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected ..
  24. ncbi [Orphanet: a European database for rare diseases]
    S S Weinreich
    VU Medisch Centrum, afd Klinische Genetica, sectie Community Genetics EMGO Instituut, BS7 D424, Postbus 7057, 1007 MB Amsterdam
    Ned Tijdschr Geneeskd 152:518-9. 2008
    Orphanet is a European initiative that aims to improve the management and treatment of rare diseases. It comprises a database dedicated to information on rare diseases and orphan drugs, and offers services adapted to the needs of ..
  25. ncbi Rare childhood diseases: how should we respond?
    Y Zurynski
    Australian Paediatric Surveillance Unit and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia
    Arch Dis Child 93:1071-4. 2008
    Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services, clinicians and the wider community...
  26. ncbi Stress and well-being among parents of children with rare diseases: a prospective intervention study
    Lotta Dellve
    Assistant Professor, Department of Public Health and Community Medicine, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden
    J Adv Nurs 53:392-402. 2006
    ..This paper reports a study to assess stress, well-being and supportive resources experienced by mothers and fathers of children with rare disabilities, and how these variables were affected by an intensive family competence intervention...
  27. ncbi Integrating medical and genomic data: a successful example for rare diseases
    Gaspar S Dias
    University of Aveiro, IEETA DET, Aveiro, Portugal
    Stud Health Technol Inform 124:125-30. 2006
    ..In this paper we present diseasecard, a web portal for rare disease that provides transparently to the user a virtually integration of distributed and heterogeneous information...
  28. pmc "Osler's phenomenon": misdiagnosing Cushing's syndrome
    P De
    Department of Endocrinology, University of Wales College of Medicine, Cardiff, UK
    Postgrad Med J 79:594-6. 2003
    ....
  29. ncbi The problems of clinical trials and registries in rare diseases
    Maurizio Luisetti
    Clinica di Malattie dell Apparato Respiratorio, Fondazione IRCCS Policlinico San Matteo, Universita di Pavia, Via Golgi 19, 27100 Pavia, Italy
    Respir Med 104:S42-4. 2010
    Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size...
  30. ncbi Drugs for exceptionally rare diseases: do they deserve special status for funding?
    D A Hughes
    Centre for Economics and Policy in Health, Institute of Medical and Social Care Research, University of Wales, Bangor, UK
    QJM 98:829-36. 2005
    Ultra-orphan drugs are medicines used to treat exceptionally rare diseases that are chronically debilitating or life-threatening...
  31. ncbi Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI
    M Schlander
    Institute for Innovation and Valuation in Health Care InnoVal, Wiesbaden, Germany
    Curr Med Res Opin 25:1285-93. 2009
    ..The recent introduction of enzyme replacement therapy (ERT) has improved considerably the lives of patients with MPS VI, at an annual cost of treatment between euro 150,000 and euro 450,000 per patient...
  32. pmc Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)
    Yaffa R Rubinstein
    Office of Rare Diseases Research National Institutes of Health, Bethesda, MD 20892, United States
    Contemp Clin Trials 31:394-404. 2010
    A movement to create a global patient registry for as many as 7,000 rare diseases was launched at a workshop, "Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data...
  33. ncbi Genetics of pediatric interstitial lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Curr Opin Pediatr 18:287-92. 2006
    ..The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung diseases in children...
  34. ncbi Patient registries: utility, validity and inference
    Rachel Richesson
    Department of Pediatrics, USF College of Medicine, Tampa, FL 33612, USA
    Adv Exp Med Biol 686:87-104. 2010
    ..public health surveillance and research inquiry, and are a particularly important resource for understanding rare diseases. Registries provide consistent data for defined populations and can support the study of the distribution and ..
  35. ncbi The use of the internet in data assimilation in rare diseases
    Raymond Bedgood
    Gastroenterology Hepatology, Medical College of Georgia, Augusta, GA 30912, USA
    Dig Dis Sci 52:307-12. 2007
    ..The Internet allows patients to voice concerns that they may not freely express to their doctor and provides a modality to collect data from a larger number of patients than may be available at any single institution...
  36. ncbi The common problem of rare disease in general practice
    Andrew W Knight
    WentWest Ltd, Sydney, NSW, Australia
    Med J Aust 185:82-3. 2006
    b>Rare diseases affect 6%-10% of the population, which equates to about 1.2 million people in Australia having a rare disease...
  37. ncbi Surveillance of rare diseases: a public health evaluation of the British Paediatric Surveillance Unit
    Rachel L Knowles
    MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK
    J Public Health (Oxf) 34:279-86. 2012
    ..In 2007-09, formal evaluation to examine its effectiveness commenced...
  38. ncbi CEMARA an information system for rare diseases
    Paul Landais
    Paris Descartes University, Faculty of Medicine, AP HP, EA 4067, Department of biostatistics and computer sciences, and Department of Genetics, Dermatology unit Necker Enfants Malades Hospital, Paris, France
    Stud Health Technol Inform 160:481-5. 2010
    b>Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment...
  39. pmc Ethical review of research into rare genetic disorders
    M Parker
    Ethox Centre, Department of Public Health, University of Oxford, Oxford OX3 7LF
    BMJ 329:288-9. 2004
  40. pmc Commissioning for rare diseases: view from the frontline
    Amanda Burls
    West Midlands Health Technology Assessment Collaboration, Department of Public Health and Epidemiology, University of Birmingham, Birmingham B15 2TT
    BMJ 331:1019-21. 2005
  41. ncbi Accelerating access to treatments for rare diseases
    Marc Dunoyer
    Global Head of GSK Rare Diseases, GSK House, 980 Great West Road, Brentford, TW8 9GS, UK
    Nat Rev Drug Discov 10:475-6. 2011
    Changes in regulatory policy and legislative incentives to promote the development of drugs for rare diseases - orphan drugs - have led to increases in the number of orphan drug designations, but the rate of such products reaching the ..
  42. ncbi Call for a national plan for rare diseases
    Adam Jaffe
    Respiratory Department, Sydney Children s Hospital, Randwick, Australia
    J Paediatr Child Health 46:2-4. 2010
    Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services...
  43. ncbi Strategies for postmarketing surveillance of drugs for rare diseases
    A S Kesselheim
    Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Clin Pharmacol Ther 95:265-8. 2014
    b>Rare diseases are an important part of the public health, affecting 6-8% of the population, and drugs intended for rare diseases comprise the fastest growing subcategory of new drug approvals in the United States...
  44. pmc Does market exclusivity hinder the development of Follow-on Orphan Medicinal Products in Europe?
    Anne E M Brabers
    NIVEL, Netherlands Institute for Health Services Research, PO Box 1568, 3500 BN Utrecht, The Netherlands
    Orphanet J Rare Dis 6:59. 2011
    ..In the interest of rare disorder patients better understanding of the effect of the market exclusivity incentive on follow-on OMP development is warranted...
  45. ncbi Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)
    Joe T R Clarke
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    Value Health 14:862-6. 2011
    Disease registries are an important source of information on the natural history of rare diseases and the response to new therapies in a real-world setting...
  46. ncbi What is known on angiogenesis-related rare diseases? A systematic review of literature
    Luis Rodríguez-Caso
    Departamento de Biologia Molecular y Bioquimica, Facultad de Ciencias, Universidad de Malaga, Malaga, Spain
    J Cell Mol Med 16:2872-93. 2012
    ..Some rare diseases are also angiogenesis-related pathologies. However, there is a lack of an exhaustive review on the topic...
  47. ncbi How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction
    Karolina Budych
    Deutsche Stiftung für chronisch Kranke, Alexanderstraße 26, 90762 Fürth, Germany
    Health Policy 105:154-64. 2012
    ..However, in rare diseases, due to the low prevalence and the lack of expertise, the patient is forced to become knowledgeable about his ..
  48. ncbi Clinical trials and rare diseases
    Stephen W Lagakos
    N Engl J Med 348:2455-6. 2003
  49. ncbi CEMARA: a Web dynamic application within a N-tier architecture for rare diseases
    Claude Messiaen
    Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d Informatique Médicale, APHP Necker Enfants Malades Hospital, Paris France
    Stud Health Technol Inform 136:51-6. 2008
    b>Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less...
  50. pmc Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012
    Marina O'Reilly
    Office of Biotechnology Activities, Office of Science Policy, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Gene Ther 24:355-62. 2013
    Gene therapy has shown clinical efficacy for several rare diseases, using different approaches and vectors...
  51. ncbi FindZebra: a search engine for rare diseases
    Radu Dragusin
    DTU Compute, Technical University of Denmark, Denmark
    Int J Med Inform 82:528-38. 2013
    ..Among diseases, rare (or orphan) diseases represent an especially challenging and thus interesting class to diagnose as each is rare, diverse in symptoms and usually has scattered resources associated with it...
  52. doi Why rare diseases are an important medical and social issue
    Arrigo Schieppati
    Clinical Research Centre for Rare Disease Aldo e Cele Daccò, Mario Negri Institute for Pharmacological Research, Bergamo, Italy
    Lancet 371:2039-41. 2008
  53. ncbi Raising orphans: how clinical development programs of drugs for rare and common diseases are different
    M Orfali
    Specialty Care Business Unit, Pfizer, Cambridge, Massachusetts, USA
    Clin Pharmacol Ther 92:262-4. 2012
    ..We conclude that small studies of appropriate design can support US FDA approval of new medicines for rare diseases.
  54. pmc The Rare Diseases Clinical Research Network Contact Registry update: features and functionality
    Rachel L Richesson
    University of South Florida, College of Medicine, Department of Pediatrics, Tampa, FL 33612, USA
    Contemp Clin Trials 33:647-56. 2012
    The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007...
  55. ncbi [Epidemiologic challenges in rare diseases]
    S Rückinger
    Ludwig Maximilians Universitat Munchen
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 51:483-90. 2008
    b>Rare diseases, often called "orphan diseases", are a special challenge for epidemiologic research. Apart from the mere logistic effort for sample collection, there are considerable implications in statistical methodology...
  56. ncbi [Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva]
    Antonio Morales-Piga
    Instituto de Investigación de Enfermedades Raras IIER, Instituto de Salud Carlos III, Madrid, Spain
    Aten Primaria 45:324-8. 2013
    ..diseases of the bone, and may be a valid example to establish the role of Primary Care in the care of rare diseases. Although rare diseases usually present with marked anomalies, they can mimic signs and symptoms of common ..
  57. ncbi An evaluation framework for funding drugs for rare diseases
    Eric Winquist
    London Health Sciences Centre and Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
    Value Health 15:982-6. 2012
    For rare diseases it may be difficult to generate data from randomized trials to support funding of a drug. Enzyme replacement therapies for diseases of inherited metabolic enzyme deficiency provide an example of this dilemma...
  58. ncbi Rare diseases in disabled children: an epidemiological survey
    P Guillem
    Register for Disabled Children and the Isère county Perinatal Survey, Grenoble, France
    Arch Dis Child 93:115-8. 2008
    To estimate the contribution of rare diseases (RD) to severe impairment in 7-year-old children.
  59. pmc Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia
    Diego Rosselli
    Clinical Epidemiology and Biostatistics, Pontificia Universidad Javeriana, Bogota, Colombia
    J Med Ethics 38:699-700. 2012
    ..We discuss the ethical and economic considerations, regarding both direct and indirect costs, of a high-cost orphan disease in a marginalised minority population in a developing country...
  60. ncbi Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM
    X Aimé
    Orphanet, INSERM US24, France
    Stud Health Technol Inform 180:88-92. 2012
    ..This preliminary work, in the field of rare diseases, involved the Orphanet Ontology of Rare Diseases (OntoOrpha) and corpus of texts extracted from Online ..
  61. ncbi International conferences on rare diseases: initiatives in commitment, patient care and connections
    Yvonne A Zurynski
    Med J Aust 187:597. 2007
  62. pmc Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
    Mirella Filocamo
    UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy
    Orphanet J Rare Dis 8:129. 2013
    ..samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research into rare diseases. Recently demand for well-annotated and properly-preserved specimens is growing at a high rate, and is ..
  63. ncbi Orphan drugs for rare diseases: is it time to revisit their special market access status?
    Steven Simoens
    Research Centre for Pharmaceutical Care and Pharmaco economics, KU Leuven, Leuven, Belgium
    Drugs 72:1437-43. 2012
    ..Indeed, evidence suggests that there is no societal preference for treating rare diseases. Although society appears to assign a greater value to severity of disease, this criterion is equally relevant ..
  64. ncbi How did uncommon disorders become 'rare diseases'? History of a boundary object
    Caroline Huyard
    Groupe de Sociologie Politique et Morale, EHESS, 10 Rue Monsieur le Prince, Paris, France
    Sociol Health Illn 31:463-77. 2009
    The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe...
  65. ncbi Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data
    Stephen C Groft
    Office of Rare Diseases Research, National Institutes of Health, Bethesda, MD 20892 7518, USA
    Adv Exp Med Biol 686:3-14. 2010
    ..disease community suffers from the absence of reliable epidemiological data on the prevalence and incidence of rare diseases in the national and global populations...
  66. pmc Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
    Jennifer Seminara
    Children s National Medical Center, Washington, DC 20010, USA
    Mol Genet Metab 100:S97-105. 2010
    ..UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC's accomplishments over the first 6years, including how the Consortium was ..
  67. ncbi National plans and strategies on rare diseases in Europe
    Domenica Taruscio
    National Centre for Rare Diseases, Istituto Superiore di Sanita, Viale Regina Elena, Rome, Italy
    Adv Exp Med Biol 686:475-91. 2010
    ....
  68. ncbi What the Orphan Drug Act has done lately for children with rare diseases: a 10-year analysis
    Chandana Thorat
    Keck Graduate Institute of Applied Life Sciences, Center for Rare Disease Therapies, Claremont, California, USA
    Pediatrics 129:516-21. 2012
    ..The 1983 US Orphan Drug Act (ODA) provided incentives to stimulate treatment product development for patients with rare disease. This article highlights a decade of ODA contributions to this goal for children with RDs...
  69. ncbi Access to information supporting availability of medicines for patients suffering from rare diseases looking for possible treatments: the EuOrphan Service
    Donatas Stakisaitis
    Mykolas Romeris University, Ateities 20, Vilnius, Lithuania
    Medicina (Kaunas) 43:441-6. 2007
    Currently in Europe, approximately 30 million people suffer from rare diseases, and a major problem is that many patients do not have access to quality healthcare for their disorders...
  70. pmc Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
    Stephen F Kingsmore
    Children s Mercy Hospital and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA
    Expert Rev Mol Diagn 11:855-68. 2011
    ..These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases...
  71. ncbi Economic considerations in the provision of treatments for rare diseases
    Christopher McCabe
    Academic Unit of Health Economics, Leeds Institute for Health Sciences, University of Leeds, Leeds, UK
    Adv Exp Med Biol 686:211-22. 2010
    ..USA, Europe and elsewhere has been incredibly successful in promoting the development of new treatments for rare diseases. Historically, payers have constructed special schemes that have facilitated patient access given the small ..
  72. ncbi Quantifying emerging drugs for very rare conditions
    K A Miles
    Department of Public Health and Epidemiology, University of Birmingham, Birmingham, B15 2TT, UK
    QJM 100:291-5. 2007
    ..EU legislation is encouraging pharmaceutical companies to develop drugs for rare conditions, but their often high cost, and potential for long-term administration has led to debate about their affordability and cost-effectiveness...
  73. ncbi Evidence-based medicine for rare diseases: implications for data interpretation and clinical trial design
    Madhusmita Behera
    Malignant Hematology Program, H Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA
    Cancer Control 14:160-6. 2007
    The randomized, controlled trial (RCT) is the "gold standard" for establishing the effect of any intervention. This approach, however, is often not feasible with rare diseases such as cutaneous T-cell lymphoma.
  74. ncbi Tackling the problem of rare diseases in public health: the Italian approach
    Domenica Taruscio
    Community Genet 6:123-4. 2003
  75. ncbi International conferences on rare diseases: initiatives in commitment, patient care and connections
    Andrew W Knight
    WentWest Ltd, Sydney, NSW, Australia
    Med J Aust 187:74-6. 2007
  76. ncbi Creating a European Union framework for actions in the field of rare diseases
    Antoni Montserrat Moliner
    Directorate of Public Health and Risk Assessment, European Commission, Luxembourg, Luxembourg
    Adv Exp Med Biol 686:457-73. 2010
    b>Rare diseases, including those of genetic origin, are defined by the European Union as life-threatening or chronically debilitating diseases which are of such low prevalence (less than 5 per 10,000)...
  77. ncbi Developing a national collaborative study system for rare genetic diseases
    Michael S Watson
    American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 10:325-9. 2008
    ....
  78. pmc An automated communication system in a contact registry for persons with rare diseases: scalable tools for identifying and recruiting clinical research participants
    R L Richesson
    Department of Pediatrics, University of South Florida College of Medicine, Tampa, FL 33612, United States
    Contemp Clin Trials 30:55-62. 2009
    ..We describe a registry of individuals who have self-identified with one of a multiplicity of rare diseases, and who express a willingness to be contacted regarding possible enrollment in clinical research studies...
  79. ncbi Cost of illness and economic evaluation in rare diseases
    Julio Lopez-Bastida
    Canary Islands Health Service, Santa Cruz de Tenerife, 38004, Spain
    Adv Exp Med Biol 686:273-82. 2010
    b>Rare diseases are a major cause of morbidity and mortality in high income countries and have major repercussions on individuals and health care systems...
  80. pmc Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy
    Joe T R Clarke
    Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ont
    CMAJ 174:189-90. 2006
  81. ncbi [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
    S L Liem
    Ned Tijdschr Tandheelkd 115:621-3. 2008
    Patients with one of the 6,000 rare diseases that are at the present time known to exist, together form a large group...
  82. ncbi Orphan drug legislation: lessons for neglected tropical diseases
    Stefano Villa
    Centre for Research on Health and Social Care Management CERGAS, Universita Bocconi, Milan, Italy
    Int J Health Plann Manage 24:27-42. 2009
    ..and has successfully promoted R&D investments to develop new pharmaceutical products for the treatment of rare diseases. Without these incentives, many life-saving new drugs would have not been developed and produced...
  83. ncbi Translation of rare disease research into orphan drug development: disease matters
    Harald E Heemstra
    Utrecht Institute for Pharmaceutical Sciences, Utrecht University, The Netherlands
    Drug Discov Today 14:1166-73. 2009
    More than 25 years of orphan drug regulations have yielded several new treatments for patients with rare diseases. Here, we show that successful translation of rare disease research into an orphan drug discovery and development programme ..
  84. ncbi Does orphan drug legislation really answer the needs of patients?
    Marlene E Haffner
    Office of Orphan Products Development, Food and Drug Administration, Amgen, Washington, DC, USA
    Lancet 371:2041-4. 2008
  85. pmc Rare essentials: drugs for rare diseases as essential medicines
    Pieter Stolk
    Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, 3508 TB Utrecht, Netherlands
    Bull World Health Organ 84:745-51. 2006
    ..WHO, an incentive system has been put in place by various governments for the development of medicines for rare diseases ("orphan drugs"). With progress in pharmaceutical research (e.g...
  86. ncbi The challenge of very rare tumours in childhood: the Italian TREP project
    Andrea Ferrari
    Paediatric Oncology Unit, Istituto Nazionale Tumori, Milano, Italy
    Eur J Cancer 43:654-9. 2007
    ..This experience demonstrates the feasibility of a national multidisciplinary cooperation on rare paediatric malignancies and suggests that international studies could be realised...
  87. pmc Societal views on orphan drugs: cross sectional survey of Norwegians aged 40 to 67
    Arna S Desser
    Department of Health Management and Health Economics, University of Oslo, PO Box 1089, Blindern, N 0317 Oslo, Norway
    BMJ 341:c4715. 2010
    To determine whether a general societal preference for prioritising treatment of rare diseases over common ones exists and could provide a justification for accepting higher cost effectiveness thresholds for orphan drugs.
  88. ncbi The orphan drug backlash
    Thomas Maeder
    Sci Am 288:80-7. 2003
  89. ncbi Evaluating access to pediatric cancer care centers of children and adolescents with rare tumors in Italy: the TREP project
    Guido Pastore
    Childhood Cancer Registry of Piedmont, Cancer Epidemiology Unit, CPO Piemonte, CeRMS, S Giovanni Hospital, University of Torino, Torino, Italy
    Pediatr Blood Cancer 53:152-5. 2009
    ..The present study compared the number of these tumors expected to be diagnosed in Italy with the number of cases actually enrolled in the TREP database in 2000-2006...
  90. ncbi Orphan drugs revisited
    C McCabe
    Health Economics and Decision Science, School of Health and Related Research, Regent Court, 30 Regent Street, Sheffield S1 4DA
    QJM 99:341-5; discussion 350-1. 2006
  91. ncbi A journey of hope: lessons learned from studies on rare diseases and orphan drugs
    M Wästfelt
    Strategy and Development Office, Karolinska Institutet, Stockholm, Sweden
    J Intern Med 260:1-10. 2006
    b>Rare diseases are frequently life-threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant...
  92. pmc Are rare diseases still orphans or happily adopted? The challenges of developing and using orphan medicinal products
    James W Dear
    Clinical Pharmacology Unit, Centre for Cardiovascular Science, University of Edinburgh, Queen s Medical Research Institute, Edinburgh, UK
    Br J Clin Pharmacol 62:264-71. 2006
    Orphan medicinal products (OMPs) are targeted at the diagnosis, prevention or treatment of rare diseases and have a special status in European law. This status brings incentives for pharmaceutical companies to invest in OMP development...
  93. ncbi Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory
    S Das
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Med 10:332-6. 2008
    ..Contrary to common misconceptions, molecular genetic testing for very rare diseases can be performed in a high-quality clinical setting in a financially self-sustaining or even profitable manner...
  94. ncbi Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases
    J H van der Lee
    Department of Pediatric Clinical Epidemiology, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    J Clin Epidemiol 61:324-30. 2008
    ..The objective of this paper is to give an overview of design options to obtain a statistically valid result while including a minimum number of subjects...
  95. ncbi [Orphan drugs--medications for patients with rare diseases]
    Desirée Thielke
    Laegehuset, NIVA, Amtssygehuset i Gentofte, Dermatologisk afdeling, og Swedish Orphan International AB
    Ugeskr Laeger 168:2236-8. 2006
    Orphan drugs (ODs) are products developed for the diagnosis and/or treatment of rare diseases and conditions...
  96. ncbi Adopting orphan drugs--two dozen years of treating rare diseases
    Marlene E Haffner
    Office of Orphan Products Development at the Food and Drug Administration, Rockville, MD, USA
    N Engl J Med 354:445-7. 2006
  97. ncbi Ethics of surgical innovation to treat rare diseases
    James W Jones
    Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA
    J Vasc Surg 39:918-9. 2004
  98. pmc The European rare diseases therapeutic initiative
    Alain Fischer
    Department of Pediatric Immunology, Necker University Hospital, Paris, France
    PLoS Med 2:e243. 2005
  99. pmc Orphan drugs and the NHS: should we value rarity?
    Christopher McCabe
    White Rose Initiative in Health Technology Assessment, Health Economics and Decision Science, School of Health and Related Research, University of Sheffield, Sheffield S1 4DA
    BMJ 331:1016-9. 2005
  100. ncbi Gene-environment interactions in rare diseases that include common birth defects
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Birth Defects Res A Clin Mol Teratol 73:865-7. 2005
    ..A symposium sponsored by the National Institutes of Health Office of Rare Diseases, and the National Toxicology Program Center for the Evaluation of Risks to Human Reproduction attempted to ..
  101. ncbi Basal cell adenoma of the parotid gland: characteristics of 2-phase helical computed tomography and magnetic resonance imaging
    Dong Kyung Lee
    Department of Otorhinolaryngology Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    J Comput Assist Tomogr 29:884-8. 2005
    ..The goal of this study was to report the radiologic characteristics of basal cell adenoma of the parotid gland, which is a relatively rare neoplasm...

Research Grants68

  1. Serpin Modulation of Inflammatory Vasculitis; Potential for Immunomodulatory Ther
    ALEXANDRA ROSE LUCAS; Fiscal Year: 2010
    ..this research proposal are 1) 15-OD(ORDR)-101* Pilot projects for prevention, early detection and treatment of rare diseases, 2) 15-NS-104 Early-stage therapy development, or 3) NSP - 15-NS-103 Demonstration of "proof-of-concept" for a ..
  2. ORGANIZATION OF CENTRAL SYMPATHETIC PATHWAYS
    Patrice G Guyenet; Fiscal Year: 2013
    ..apnea (OSA), the treatment of pain with opiates, central sleep apnea, sudden infant death syndrome (SIDS), and rare diseases such as congenital central hypoventilation syndrome (CCHS)...
  3. A unique approach to identify markers for congenital syphilis and neurosyphilis
    Nikhat Parveen; Fiscal Year: 2010
    ..Specific Challenge Topic- 15-OD(ORDR)-101*: Pilot projects for prevention, early detection and treatment of rare diseases, Syphilis is a chronic, multisystemic disease caused by the spirochete, Treponema pallidum subspecies pallidum ..
  4. Preclinical drug trial in mouse models of inflammation
    Kanneboyina Nagaraju; Fiscal Year: 2011
    ..A major stumbling block in moving potential therapeutic approaches for rare diseases from the laboratory bench to human clinical trials involves obtaining "pre-clinical" data in mouse models of ..
  5. Exon capture and large-scale sequencing for disease-cause identification, early d
    Friedhelm Hildebrandt; Fiscal Year: 2010
    ..Translational Science Topic: 15-OD (ORDR)-101* Pilot projects for prevention, early detection and treatment of rare diseases. Exon capture and large-scale sequencing for disease-cause identification, early detection and drug discovery ..
  6. Preclinical drug trial in mouse models of inflammation
    Kanneboyina Nagaraju; Fiscal Year: 2013
    ..A major stumbling block in moving potential therapeutic approaches for rare diseases from the laboratory bench to human clinical trials involves obtaining "pre-clinical" data in mouse models of ..
  7. IGF-1, bone turnover and response to teriparatide in premenopausal women with IOP
    Adi Cohen; Fiscal Year: 2013
    ....
  8. A reconstructed skin model for development of treatments for albinism
    Seth J Orlow; Fiscal Year: 2010
    ..specific challenge topic, 15-OD (ORDR)-101 "Pilot projects for prevention, early detection and treatment of rare diseases." Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder resulting from mutations in the ..
  9. Cicatricial Alopecia Research Symposium 2011: Lipids, Inflammation &Stem Cells
    Pratima Karnik; Fiscal Year: 2011
    ..discussion from thought leaders in diverse fields is clearly needed to study this neglected group of rare diseases. The program for the 2011 symposium provides a strong emphasis on three major thematic areas 1) inflammation ..
  10. Determinants of Disease Expression in Arrhythmogenic Cardiomyopathy
    Jeffrey E Saffitz; Fiscal Year: 2010
    ..and specific Challenge Topic 15-OD(ORDR)-101: Pilot projects for prevention, early detection and treatment of rare diseases. This Challenge Grant application is focused on arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare ..
  11. Colorado Center for Childhood Liver Disease Research and Education
    Ronald J Sokol; Fiscal Year: 2013
    ..We will also train the researchers of the future who will study these rare diseases.
  12. Vitamin D and fibroblast growth factor 23 physiology in adolescent girls
    DEBORAH MICHELLE MITCHELL; Fiscal Year: 2012
    ..While its role in several rare diseases is increasingly well-described, less is known about its function and regulation in healthy people, ..
  13. Stem cells and the fibroblast/adipocyte lineage in arrhythmogenic cardiomyopathy
    Karen L Vikstrom; Fiscal Year: 2010
    ..Yet, as it is often the case with the study of rare diseases, lessons learned from the present project are likely to find applications relevant to the much broader ..
  14. 2011 Cell-Cell Fusion Gordon Research Conference and Seminar
    NANCY RYAN GRAY; Fiscal Year: 2011
    ..of the first events in sexual development, the formation of many organs, cancer, stem cell biology, and rare diseases. The exciting, friendly, and multidisciplinary atmosphere that has traditionally characterized the Cell-Cell ..
  15. Phase 2a Study of Ataluren in Hemophilia A and B (IND 104,321)
    JAY A BARTH; Fiscal Year: 2010
    ..and specific Challenge Topic, 15-OD(ORDR)-101: Pilot projects for prevention, early detection and treatment of rare diseases. Described is a Phase 2a, multi-site, open-label, dose-ranging, challenge-dechallenge-rechallenge activity, ..
  16. Characterizing a New Human Dendritic Cell Lineage and Its Role in LCH
    Miriam Merad; Fiscal Year: 2013
    ..provided by applicant): Langerhans Cell Histiocytosis (LCH) is the most common of histiocytosis, a group of rare diseases that involve tissue-resident macrophages and dendritic cells...
  17. South Carolina Study for Adolescents and Young Adults with Rare Conditions
    SUZANNE W MCDERMOTT; Fiscal Year: 2013
    ..the potential to answer important questions about the health and welfare of adolescents and young adults with rare diseases using de-identified (anonymous) data from numerous agencies...
  18. A Mouse Model for the Rare Plasma Cell Disease AL Amyloidosis
    David C Seldin; Fiscal Year: 2010
    ..the Specific Challenge Topic 15-OD(ORDR)-101, "Pilot projects for prevention, early detection and treatment of rare diseases"...
  19. Pilot Studies of Gene Therapy for Primary Ciliary Dyskinesia
    Lawrence E Ostrowski; Fiscal Year: 2010
    ..and specific Challenge Topic, 15-OD(ORDR)-101: Pilot projects for prevention, early detection and treatment of rare diseases. Specifically, this application is focused on developing gene therapy as a treatment for the rare disease ..
  20. Genetic Disorder of Mucocilary Clearance
    Michael R Knowles; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): This Consortium of 7 clinical research sites will continue to study rare diseases of the airways that are associated with defective mucociliary clearance...
  21. A Novel Neuroprotective Protein, Thorase
    Valina L Dawson; Fiscal Year: 2012
    ..The incidence of these disorders ranges from stroke, epilepsy and Alzheimer's, which affect millions, to rare diseases such as amyotrophic lateral sclerosis and ataxia's...
  22. Hereditary Multiple Exostosis Syndrome: Pathogenesis and Treatment
    MAURIZIO contact PACIFICI; Fiscal Year: 2010
    ..and the Challenge Topic 15- OD(ORDR)-101 "Pilot Projects for Prevention, Early Detection and Treatment of Rare Diseases"...
  23. Establichment of CHLA's ChilDREN Clinical Center
    KASPER SAONUN WANG; Fiscal Year: 2013
    ..ChiLDREN will facilitate the accrual of larger cohorts of patients with these rare diseases to advance knowledge and treatment of these devastating diseases.
  24. Conference Support for International Congress on Oncogenic Herpesviruses
    Paul M Lieberman; Fiscal Year: 2012
    ..to advance and promote the pace of research on chronic infections associated with human cancer and other rare diseases, especially in the setting of HIV- AIDS...
  25. Rare Liver Disease Network
    Ronald J Sokol; Fiscal Year: 2010
    ..propose the development of a coordinated and integrated "Rare Liver Disease Network" (RLDN) as a Rare Diseases Clinical Research Center in response to NIH RFA RR 03-008...
  26. 2012 Proteoglycans Gordon Research Conference
    Robert J Linhardt; Fiscal Year: 2012
    ..Proteoglycans have also been shown to have key roles in rare diseases such as multiple hereditary exostoses, and mucopolysaccharidosis both of which will be highlighted in the ..
  27. Screening for Jervell and Lange-Nielsen Syndrome
    Ruey Kang R Chang; Fiscal Year: 2010
    ..specific Challenge Topic, 15-OD(ORDR)-101: Pilot Projects for Prevention, Early Detection, and Treatment of Rare Diseases. The congenital long QT syndrome (LQTS) is a genetic disorder characterized by a prolonged QT interval on the ..
  28. Autonomic Rare Diseases Clinical Research Consortium
    DAVID HERLIE ROBERTSON; Fiscal Year: 2013
    ..to join with patient support groups to harness the knowledge and energies of physicians and investigators in the major centers where these patients are cared for, so that they can discover ways to treat and to cure these diseases ..
  29. The Lymphangioleiomyomatosis (LAM)Genome Atlas
    DAVID J contact KWIATKOWSKI; Fiscal Year: 2010
    ..and specific Challenge Topic 15-OD(ORDR)-101* "Pilot projects for prevention, early detection and treatment of rare diseases." Lymphangioleiomyomatosis (LAM) is an often-fatal rare disease affecting young women, characterized ..
  30. BIOBEHAVIORAL RESEARCH IN PUBLIC HEALTH GENETICS
    KENNETH TERCYAK; Fiscal Year: 2011
    ..to a clinically- oriented behavioral scientist focusing on health promotion to achieve a shift away from rare diseases toward more common diseases, and to plan and implement interventions that are informed by more real-world ..
  31. Rare Diseases Clinical Research Consortia (RDCRC) for the RDCR Network
    Mark L Batshaw; Fiscal Year: 2013
    ..During the previous grant period we have created the Urea Cycle Disorders Consortium (UCDC) within the Rare Diseases Clinical Research Network (RDCRN) and have launched successfully four research projects aimed at understanding ..
  32. Rapid and inexpensive screening of disease candidate genes in mice
    KATHLEEN JOYCE MILLEN; Fiscal Year: 2010
    ..and Specific Challenge Topic 15-OD(ORDR)-101: Pilot projects for prevention, early detection and treatment of rare diseases. Although recent advances in human genetic technologies have revolutionized our ability to identify disease ..
  33. Alcohol Consumption and Risk of Rheumatoid Arthritis in Women
    Bing Lu; Fiscal Year: 2011
    ..information provided by the 238,000 dedicated nurse-participants has provided the unique opportunity to study rare diseases such as RA...
  34. IDENTIFICATION AND VALIDATION OF BIOMARKERS FOR VASCULITIS
    Paul A Monach; Fiscal Year: 2010
    ..Validation, and specific Challenge Topic 03-OD (ORDR)-101*: Validating Biomarkers for Functional Outcomes in Rare Diseases. The systemic vasculitides are a group of diseases characterized by severe inflammation of blood vessels ..
  35. iPSC from British and Danish dementias: new discovery tools for brain amyloidoses
    JORGE A GHISO; Fiscal Year: 2013
    ..Moreover, they will have a broader impact in the field of neurodegenerative disorders, extending beyond these rare diseases into the field of AD, providing invaluable options for a better understanding of the mechanisms that modulate ..
  36. The use of patient-specific iPS cells to identify osteoclast defects in CMD
    I Ping Chen; Fiscal Year: 2013
    ..Studies of rare diseases have been plagued by the unavailability of primary cells/tissues and lack of suitable animal models...
  37. Novel Insights into the Pathogenesis of Light Chain Cardiac Amyloidosis
    Flora Sam; Fiscal Year: 2011
    ..of Representatives Appropriations Committee on the need for additional research on amyloidosis, the Office of Rare Diseases (NIH) sponsored a workshop and the promotion of amyloidosis-related grants...
  38. North American Mitochondrial Disease Consortium (NAMDC)
    JOHN L THOMPSON; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): A member of the Rare Diseases Clinical Research Network (RDCRN), the North American Mitochondrial Disease Consortium (NAMDC) has established a network of nine clinical centers to improve the ..
  39. Rare disease CRC for new therapies and new diagnostics
    ALAN KENNETH PERCY; Fiscal Year: 2013
    ..interest in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) to continue a Rare Diseases Clinical Research Center (RDCRC) within the Rare Diseases Clinical Research Network (RDCRN)...
  40. Third Bone Marrow Failure Disease Scientific Symposium
    Richard M Stone; Fiscal Year: 2012
    ..Aplastic anemia (AA), myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH) are rare diseases that result in bone marrow failure...
  41. CARRA: Accelerating Toward an Evidence Based Culture in Pediatric Rheumatology
    Carol A Wallace; Fiscal Year: 2010
    ..If successful, CARRA's exponential progress will serve as a model to be emulated by other emerging clinical research networks in rare diseases of adults and children.
  42. Identifying the role of codanin in erythroid and megakaryocytic differentiation
    LINETTE BOSQUES; Fiscal Year: 2013
    ..In fact, improving understanding of rare diseases has historically led to major advances in medical science...
  43. Phase 2 Study of CNTF on Photoreceptor Structure in Retinitis Pigmentosa
    JACQUE LYNNE DUNCAN; Fiscal Year: 2012
    ..The study will test the hypothesis that CNTF is safe and effective in preventing vision cell death and blindness in patients with inherited retinal degenerations. ..
  44. Hereditary Causes of Nephrolithaisis and Kidney Failure
    DAWN SCHMAUTZ MILLINER; Fiscal Year: 2013
    ..to facilitate discovery of biomarkers of disease risk, disease activity, and response to therapy for four rare diseases that share similar mechanisms and severe disease manifestations...
  45. Immunologic and Molecular Phenotypes in AATD and Sarcoidosis
    Lisa A Maier; Fiscal Year: 2013
    ..RELEVANCE: Sarcoidosis and AATD are rare diseases that result in significant morbidity and mortality...
  46. Immune Mediated Disorders After Allogeneic Hematopoietic Cell Transplants (HCT)
    Stephanie J Lee; Fiscal Year: 2010
    ..2007, approximately 9,500 allogeneic HCTs were performed in the United States, primarily for the treatment of rare diseases such as leukemia, lymphoma, multiple myeloma and other hematologic diseases...
  47. North American Fetal Therapy Network Biannual Scientific Meetings
    Anthony Johnson; Fiscal Year: 2013
    ..which was supported by the National Institutes of Child Health and Human Development (NICHD), the Office of Rare Diseases and the National Heart, Lung, and Blood Institute...
  48. Immune Mediated Disorders After Allogeneic Hematopoietic Cell Transplants (HCT)
    Stephanie J Lee; Fiscal Year: 2013
    ..2007, approximately 9,500 allogeneic HCTs were performed in the United States, primarily for the treatment of rare diseases such as leukemia, lymphoma, multiple myeloma and other hematologic diseases...
  49. Brain Vascular Malformation Consortium: Predictors of clinical course
    Michael T Lawton; Fiscal Year: 2013
    ..Toronto, with a detailed program for training new investigators in clinical research on rare diseases. Three international Patient Support Organizations (PSOs)-Angioma Alliance, Sturge Weber Foundation, HHT ..
  50. 2010 Proteoglycans Gordon Conference
    Robert J Linhardt; Fiscal Year: 2010
    ..Proteoglycans have also been shown to have key roles in rare diseases such as multiple hereditary exostoses, and mucopolysaccaridosis both of which will highlighted in the program...
  51. Emory Clinical Center: Childhood Liver Disease Research and Education Network
    Rene Romero; Fiscal Year: 2011
    ..Presently, the coordinated study of the etiology and treatment of these rare diseases are organized by the Biliary Atresia Research Consortium (BARC) and the Cholestatic Liver Disease Consortium (..
  52. Molecular analyses of RECQ1 functions in genome maintenance
    Sudha Sharma; Fiscal Year: 2013
    ..HEALTH RELEVANCE: RECQ1 belongs to the RecQ family of DNA helicases members of which are associated with rare diseases of premature aging and cancer predisposition in humans...
  53. YK-4-279 specifically targets ETS family fusion-protein cancers in clinical trial
    Jeffrey A Toretsky; Fiscal Year: 2010
    ..A recent conference sponsored by the NIH Office of the Director on Rare Diseases recognized the challenge that many rare cancers do not receive adequate support from the NCI, thus additional ..
  54. Familial and Early Onset Colorectal Cancer
    CLEMENT R BOLAND; Fiscal Year: 2013
    ..to specific genetic syndromes such as Lynch Syndrome, familial adenomatous polyposis, and a few other rare diseases. Another 20-30% of patients with CRC have a first degree relative with CRC, but it is not known how much of ..
  55. Nephrotic Syndrome, Cardiovascular Disease Risk and the Effect of Statin Therapy
    Laura H Mariani; Fiscal Year: 2012
    ..codes, prescription information and laboratory data and is uniquely suited for population-based studies of rare diseases. We will perform a survival analysis, using a Cox proportional hazards model, to determine the hazard ratio ..
  56. EPR 2010
    Balaraman Kalyanaraman; Fiscal Year: 2010
    ..research activities involving magnetic resonance, structural and redox biology, radiation, cancer, and other rare diseases. The major purpose of this meeting is to discuss the applications of state-of-the-art EPR methodology in ..
  57. FASEB SRC on Ion Channel Regulation
    Alfred L George; Fiscal Year: 2011
    ..Several of the planned presentations emphasize research into the molecular and cellular basis of rare diseases (channelopathies)...
  58. Characterizing the molecular signatures of rare inherited colon cancer syndromes
    RANDALL WALTER BURT; Fiscal Year: 2010
    ..specific Challenge Topic, 15- OD(ORDR)-101: Pilot projects for prevention, early detection and treatment of rare diseases. Current technology for diagnosis of rare genetic diseases most commonly involves identification of the ..
  59. BIOMEDICAL (APPLIED/EXPLORATORY)
    JUDITH GWATHMEY; Fiscal Year: 2009
    ..This therapy applies to a category of orphan diseases which typically afflict impoverished and disenfranchised populations;therefore, commercial opportunity is global...
  60. Frontiers in Ichthyosis Research
    William B Rizzo; Fiscal Year: 2010
    ..for those investigators to be inspired by patients and learn from those with more experience in these rare diseases. We expect that at the conclusion of the meeting, a general consensusmight emerge concerning important new ..
  61. Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Primary Immune Deficiency Diseases (PIDDs) include a group of rare diseases whose clinical manifestations encompass multiple clinical specialties...
  62. 2013 International Research Conference on Tuberous Sclerosis Complex and Related
    Steven L Roberds; Fiscal Year: 2013
    ..complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and rare diseases with overlapping phenotypes...
  63. Study of TTP: Incidence Rates and Risk Factors
    Charles Bennett; Fiscal Year: 2005
    ..As with other rare diseases, there are significant gaps in the understanding of the pathogenesis of TTP, its distribution in the US ..
  64. Biochemical Detection of Prions in Blood
    Joaquin Castilla; Fiscal Year: 2005
    ..Although rare diseases, the recent outbreak of Bovine Spongiform Encephalopathy and Chronic Wasting disease and the transmission of ..
  65. Rare Liver Disease Network
    Ronald Sokol; Fiscal Year: 2005
    ..propose the development of a coordinated and integrated "Rare Liver Disease Network" (RLDN) as a Rare Diseases Clinical Research Center in response to NIH RFA RR 03-008...
  66. Development of Novel Therapies for Pediatric Cancer
    Stephan Morris; Fiscal Year: 2004
    ..abstract_text> ..
  67. Survey Nonresponse Bias, HIPAA, and Mixed Data Collection Modes
    Timothy Beebe; Fiscal Year: 2009
    ..investigate ways to prevent disease, and identify the causes, treatments, and cures for common and rare diseases: surveys provide vital information in each of these areas...
  68. AA&MDSIF Second Bone Marrow Failure Disease Scientific Symposium
    Richard Stone; Fiscal Year: 2009
    ..Aplastic anemia (AA), the myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH) are rare diseases that all result in bone marrow failure...