Genomes and Genes
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.
Publications306 found, 100 shown here
- Estimating the budget impact of orphan medicines in Europe: 2010 - 2020Carina 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...
- Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersAna 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...
- Pricing and reimbursement of orphan drugs: the need for more transparencySteven 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...
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam 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...
- Clinical research for rare disease: opportunities, challenges, and solutionsRobert C Griggs
Department of Neurology, University of Rochester, 1351 Mt Hope Avenue, Suite 203, Rochester, NY 14620, USA
Mol Genet Metab 96:20-6. 2009Over 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...
- The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan SyndromeKathrin Roll
Hamburg Center for Health Economics, University of Hamburg, Hamburg, Germany
Health Policy 105:119-27. 2012....
- A framework for applying unfamiliar trial designs in studies of rare diseasesSamir Gupta
Department of Medicine, University of Toronto, Toronto, Ontario M5B 1W8, Canada
J Clin Epidemiol 64:1085-94. 2011b>Rare diseases may be difficult to study through conventional research methods, but are amenable to study through certain uncommonly used designs...
- 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...
- 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...
- The orphan disease networksMinlu 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...
- Care for patients with ultra-rare disordersRaoul 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...
- Rare diseases, orphan drugs and their regulation: questions and misconceptionsErik Tambuyzer
Genzyme, Ikaroslaan 53, B 1930, Zaventem, Belgium
Nat Rev Drug Discov 9:921-9. 2010Sustained 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...
- 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...
- Networking for rare diseases: a necessity for EuropeS Ayme
INSERM, Orphanet Paris, Paris, France
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50:1477-83. 2007Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined...
- Perspectives for improving the evaluation and access of therapies for rare lung diseases in EuropeMaurizio Luisetti
Department of Molecular Medicine, Section of Pneumology, University of Pavia, IRCCS San Matteo Hospital Foundation, Pavia, Italy
Respir Med 106:759-68. 2012....
- Drugs for rare diseases: influence of orphan designation status on priceEline 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...
- Clinical trials of orphan medicinesBrendan M Buckley
European Centre for Clinical Trials in Rare Diseases, University College Cork, Cork, Ireland
Lancet 371:2051-5. 2008
- When everyone is an orphan: against adopting a U.S.-styled orphan drug policy in CanadaMatthew Herder
Health Law Institute, Faculties of Medicine and Law, Dalhousie University, Halifax, Nova Scotia, Canada
Account Res 20:227-69. 2013Putting 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...
- Rare diseases social epidemiology: analysis of inequalitiesAnna 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 ..
- Rare diseases epidemiology researchManuel 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. 2010b>Rare Diseases Epidemiology is a novel action field still largely unexplored. However, Rare Diseases is a topic of growing interest at world level...
- Orphan drug development: an economically viable strategy for biopharma R&DKiran 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...
- The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseasesBrigitta E Miyamoto
Kakkis EveryLife Foundation For Rare Diseases, 77 Digital Drive, Suite 210, Novato, CA 94949, USA
Orphanet J Rare Dis 6:49. 2011Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models...
- The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom exampleAngela 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 ..
- [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. 2008Orphanet 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 ..
- 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. 2008Paradoxically, 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...
- Stress and well-being among parents of children with rare diseases: a prospective intervention studyLotta 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...
- Integrating medical and genomic data: a successful example for rare diseasesGaspar 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...
- "Osler's phenomenon": misdiagnosing Cushing's syndromeP De
Department of Endocrinology, University of Wales College of Medicine, Cardiff, UK
Postgrad Med J 79:594-6. 2003....
- The problems of clinical trials and registries in rare diseasesMaurizio 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. 2010Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size...
- 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. 2005Ultra-orphan drugs are medicines used to treat exceptionally rare diseases that are chronically debilitating or life-threatening...
- Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VIM 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...
- 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. 2010A 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...
- Genetics of pediatric interstitial lung diseaseLawrence 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...
- Patient registries: utility, validity and inferenceRachel 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 ..
- The use of the internet in data assimilation in rare diseasesRaymond 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...
- The common problem of rare disease in general practiceAndrew W Knight
WentWest Ltd, Sydney, NSW, Australia
Med J Aust 185:82-3. 2006b>Rare diseases affect 6%-10% of the population, which equates to about 1.2 million people in Australia having a rare disease...
- Surveillance of rare diseases: a public health evaluation of the British Paediatric Surveillance UnitRachel 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...
- CEMARA an information system for rare diseasesPaul 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. 2010b>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...
- Ethical review of research into rare genetic disordersM Parker
Ethox Centre, Department of Public Health, University of Oxford, Oxford OX3 7LF
BMJ 329:288-9. 2004
- Commissioning for rare diseases: view from the frontlineAmanda Burls
West Midlands Health Technology Assessment Collaboration, Department of Public Health and Epidemiology, University of Birmingham, Birmingham B15 2TT
BMJ 331:1019-21. 2005
- Accelerating access to treatments for rare diseasesMarc Dunoyer
Global Head of GSK Rare Diseases, GSK House, 980 Great West Road, Brentford, TW8 9GS, UK
Nat Rev Drug Discov 10:475-6. 2011Changes 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 ..
- Call for a national plan for rare diseasesAdam Jaffe
Respiratory Department, Sydney Children s Hospital, Randwick, Australia
J Paediatr Child Health 46:2-4. 2010Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services...
- Strategies for postmarketing surveillance of drugs for rare diseasesA 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. 2014b>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...
- 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...
- 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. 2011Disease 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...
- What is known on angiogenesis-related rare diseases? A systematic review of literatureLuis 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...
- How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interactionKarolina 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 ..
- Clinical trials and rare diseasesStephen W Lagakos
N Engl J Med 348:2455-6. 2003
- CEMARA: a Web dynamic application within a N-tier architecture for rare diseasesClaude 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. 2008b>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...
- Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012Marina 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. 2013Gene therapy has shown clinical efficacy for several rare diseases, using different approaches and vectors...
- FindZebra: a search engine for rare diseasesRadu 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...
- Why rare diseases are an important medical and social issueArrigo Schieppati
Clinical Research Centre for Rare Disease Aldo e Cele Daccò, Mario Negri Institute for Pharmacological Research, Bergamo, Italy
Lancet 371:2039-41. 2008
- Raising orphans: how clinical development programs of drugs for rare and common diseases are differentM 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.
- The Rare Diseases Clinical Research Network Contact Registry update: features and functionalityRachel L Richesson
University of South Florida, College of Medicine, Department of Pediatrics, Tampa, FL 33612, USA
Contemp Clin Trials 33:647-56. 2012The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007...
- [Epidemiologic challenges in rare diseases]S Rückinger
Ludwig Maximilians Universitat Munchen
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 51:483-90. 2008b>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...
- [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 ..
- An evaluation framework for funding drugs for rare diseasesEric Winquist
London Health Sciences Centre and Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
Value Health 15:982-6. 2012For 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...
- Rare diseases in disabled children: an epidemiological surveyP Guillem
Register for Disabled Children and the Isère county Perinatal Survey, Grenoble, France
Arch Dis Child 93:115-8. 2008To estimate the contribution of rare diseases (RD) to severe impairment in 7-year-old children.
- Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in ColombiaDiego 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...
- Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIMX 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 ..
- International conferences on rare diseases: initiatives in commitment, patient care and connectionsYvonne A Zurynski
Med J Aust 187:597. 2007
- Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseasesMirella 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 ..
- 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 ..
- How did uncommon disorders become 'rare diseases'? History of a boundary objectCaroline Huyard
Groupe de Sociologie Politique et Morale, EHESS, 10 Rue Monsieur le Prince, Paris, France
Sociol Health Illn 31:463-77. 2009The 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...
- Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological dataStephen 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...
- Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer 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 ..
- National plans and strategies on rare diseases in EuropeDomenica Taruscio
National Centre for Rare Diseases, Istituto Superiore di Sanita, Viale Regina Elena, Rome, Italy
Adv Exp Med Biol 686:475-91. 2010....
- What the Orphan Drug Act has done lately for children with rare diseases: a 10-year analysisChandana 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...
- Access to information supporting availability of medicines for patients suffering from rare diseases looking for possible treatments: the EuOrphan ServiceDonatas Stakisaitis
Mykolas Romeris University, Ateities 20, Vilnius, Lithuania
Medicina (Kaunas) 43:441-6. 2007Currently 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...
- Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencingStephen 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...
- Economic considerations in the provision of treatments for rare diseasesChristopher 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 ..
- Quantifying emerging drugs for very rare conditionsK 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...
- Evidence-based medicine for rare diseases: implications for data interpretation and clinical trial designMadhusmita Behera
Malignant Hematology Program, H Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA
Cancer Control 14:160-6. 2007The 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.
- Tackling the problem of rare diseases in public health: the Italian approachDomenica Taruscio
Community Genet 6:123-4. 2003
- International conferences on rare diseases: initiatives in commitment, patient care and connectionsAndrew W Knight
WentWest Ltd, Sydney, NSW, Australia
Med J Aust 187:74-6. 2007
- Creating a European Union framework for actions in the field of rare diseasesAntoni Montserrat Moliner
Directorate of Public Health and Risk Assessment, European Commission, Luxembourg, Luxembourg
Adv Exp Med Biol 686:457-73. 2010b>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)...
- Developing a national collaborative study system for rare genetic diseasesMichael S Watson
American College of Medical Genetics, Bethesda, Maryland 20814, USA
Genet Med 10:325-9. 2008....
- An automated communication system in a contact registry for persons with rare diseases: scalable tools for identifying and recruiting clinical research participantsR 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...
- Cost of illness and economic evaluation in rare diseasesJulio Lopez-Bastida
Canary Islands Health Service, Santa Cruz de Tenerife, 38004, Spain
Adv Exp Med Biol 686:273-82. 2010b>Rare diseases are a major cause of morbidity and mortality in high income countries and have major repercussions on individuals and health care systems...
- Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policyJoe T R Clarke
Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ont
CMAJ 174:189-90. 2006
- [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. 2008Patients with one of the 6,000 rare diseases that are at the present time known to exist, together form a large group...
- Orphan drug legislation: lessons for neglected tropical diseasesStefano 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...
- Translation of rare disease research into orphan drug development: disease mattersHarald E Heemstra
Utrecht Institute for Pharmaceutical Sciences, Utrecht University, The Netherlands
Drug Discov Today 14:1166-73. 2009More 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 ..
- 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
- Rare essentials: drugs for rare diseases as essential medicinesPieter 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...
- The challenge of very rare tumours in childhood: the Italian TREP projectAndrea 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...
- Societal views on orphan drugs: cross sectional survey of Norwegians aged 40 to 67Arna S Desser
Department of Health Management and Health Economics, University of Oslo, PO Box 1089, Blindern, N 0317 Oslo, Norway
BMJ 341:c4715. 2010To 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.
- The orphan drug backlashThomas Maeder
Sci Am 288:80-7. 2003
- Evaluating access to pediatric cancer care centers of children and adolescents with rare tumors in Italy: the TREP projectGuido 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...
- Orphan drugs revisitedC 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
- A journey of hope: lessons learned from studies on rare diseases and orphan drugsM Wästfelt
Strategy and Development Office, Karolinska Institutet, Stockholm, Sweden
J Intern Med 260:1-10. 2006b>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...
- Are rare diseases still orphans or happily adopted? The challenges of developing and using orphan medicinal productsJames 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. 2006Orphan 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...
- Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratoryS 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...
- Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseasesJ 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...
- [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. 2006Orphan drugs (ODs) are products developed for the diagnosis and/or treatment of rare diseases and conditions...
- Adopting orphan drugs--two dozen years of treating rare diseasesMarlene E Haffner
Office of Orphan Products Development at the Food and Drug Administration, Rockville, MD, USA
N Engl J Med 354:445-7. 2006
- Ethics of surgical innovation to treat rare diseasesJames W Jones
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA
J Vasc Surg 39:918-9. 2004
- The European rare diseases therapeutic initiativeAlain Fischer
Department of Pediatric Immunology, Necker University Hospital, Paris, France
PLoS Med 2:e243. 2005
- 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
- Gene-environment interactions in rare diseases that include common birth defectsJohn 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 ..
- Basal cell adenoma of the parotid gland: characteristics of 2-phase helical computed tomography and magnetic resonance imagingDong 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...
- Serpin Modulation of Inflammatory Vasculitis; Potential for Immunomodulatory TherALEXANDRA 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 ..
- ORGANIZATION OF CENTRAL SYMPATHETIC PATHWAYSPatrice 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)...
- A unique approach to identify markers for congenital syphilis and neurosyphilisNikhat 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 ..
- Preclinical drug trial in mouse models of inflammationKanneboyina 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 ..
- Exon capture and large-scale sequencing for disease-cause identification, early dFriedhelm 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 ..
- Preclinical drug trial in mouse models of inflammationKanneboyina 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 ..
- IGF-1, bone turnover and response to teriparatide in premenopausal women with IOPAdi Cohen; Fiscal Year: 2013....
- A reconstructed skin model for development of treatments for albinismSeth 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 ..
- Cicatricial Alopecia Research Symposium 2011: Lipids, Inflammation &Stem CellsPratima 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 ..
- Determinants of Disease Expression in Arrhythmogenic CardiomyopathyJeffrey 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 ..
- Colorado Center for Childhood Liver Disease Research and EducationRonald J Sokol; Fiscal Year: 2013..We will also train the researchers of the future who will study these rare diseases.
- Vitamin D and fibroblast growth factor 23 physiology in adolescent girlsDEBORAH 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, ..
- Stem cells and the fibroblast/adipocyte lineage in arrhythmogenic cardiomyopathyKaren 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 ..
- 2011 Cell-Cell Fusion Gordon Research Conference and SeminarNANCY 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 ..
- 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, ..
- Characterizing a New Human Dendritic Cell Lineage and Its Role in LCHMiriam 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...
- South Carolina Study for Adolescents and Young Adults with Rare ConditionsSUZANNE 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...
- A Mouse Model for the Rare Plasma Cell Disease AL AmyloidosisDavid C Seldin; Fiscal Year: 2010..the Specific Challenge Topic 15-OD(ORDR)-101, "Pilot projects for prevention, early detection and treatment of rare diseases"...
- Pilot Studies of Gene Therapy for Primary Ciliary DyskinesiaLawrence 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 ..
- Genetic Disorder of Mucocilary ClearanceMichael R Knowles; Fiscal Year: 2013DESCRIPTION (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...
- A Novel Neuroprotective Protein, ThoraseValina 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...
- Hereditary Multiple Exostosis Syndrome: Pathogenesis and TreatmentMAURIZIO contact PACIFICI; Fiscal Year: 2010..and the Challenge Topic 15- OD(ORDR)-101 "Pilot Projects for Prevention, Early Detection and Treatment of Rare Diseases"...
- Establichment of CHLA's ChilDREN Clinical CenterKASPER 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.
- Conference Support for International Congress on Oncogenic HerpesvirusesPaul 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...
- Rare Liver Disease NetworkRonald 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...
- 2012 Proteoglycans Gordon Research ConferenceRobert 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 ..
- Screening for Jervell and Lange-Nielsen SyndromeRuey 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 ..
- Autonomic Rare Diseases Clinical Research ConsortiumDAVID 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 ..
- The Lymphangioleiomyomatosis (LAM)Genome AtlasDAVID 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 ..
- BIOBEHAVIORAL RESEARCH IN PUBLIC HEALTH GENETICSKENNETH 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 ..
- Rare Diseases Clinical Research Consortia (RDCRC) for the RDCR NetworkMark 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 ..
- Rapid and inexpensive screening of disease candidate genes in miceKATHLEEN 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 ..
- Alcohol Consumption and Risk of Rheumatoid Arthritis in WomenBing 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...
- IDENTIFICATION AND VALIDATION OF BIOMARKERS FOR VASCULITISPaul 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 ..
- iPSC from British and Danish dementias: new discovery tools for brain amyloidosesJORGE 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 ..
- The use of patient-specific iPS cells to identify osteoclast defects in CMDI 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...
- Novel Insights into the Pathogenesis of Light Chain Cardiac AmyloidosisFlora 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...
- North American Mitochondrial Disease Consortium (NAMDC)JOHN L THOMPSON; Fiscal Year: 2013DESCRIPTION (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 ..
- Rare disease CRC for new therapies and new diagnosticsALAN 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)...
- Third Bone Marrow Failure Disease Scientific SymposiumRichard 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...
- CARRA: Accelerating Toward an Evidence Based Culture in Pediatric RheumatologyCarol 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.
- Identifying the role of codanin in erythroid and megakaryocytic differentiationLINETTE BOSQUES; Fiscal Year: 2013..In fact, improving understanding of rare diseases has historically led to major advances in medical science...
- Phase 2 Study of CNTF on Photoreceptor Structure in Retinitis PigmentosaJACQUE 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. ..
- Hereditary Causes of Nephrolithaisis and Kidney FailureDAWN 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...
- Immunologic and Molecular Phenotypes in AATD and SarcoidosisLisa A Maier; Fiscal Year: 2013..RELEVANCE: Sarcoidosis and AATD are rare diseases that result in significant morbidity and mortality...
- 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...
- North American Fetal Therapy Network Biannual Scientific MeetingsAnthony 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...
- 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...
- Brain Vascular Malformation Consortium: Predictors of clinical courseMichael 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 ..
- 2010 Proteoglycans Gordon ConferenceRobert 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...
- Emory Clinical Center: Childhood Liver Disease Research and Education NetworkRene 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 (..
- Molecular analyses of RECQ1 functions in genome maintenanceSudha 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...
- YK-4-279 specifically targets ETS family fusion-protein cancers in clinical trialJeffrey 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 ..
- Familial and Early Onset Colorectal CancerCLEMENT 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 ..
- Nephrotic Syndrome, Cardiovascular Disease Risk and the Effect of Statin TherapyLaura 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 ..
- EPR 2010Balaraman 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 ..
- FASEB SRC on Ion Channel RegulationAlfred L George; Fiscal Year: 2011..Several of the planned presentations emphasize research into the molecular and cellular basis of rare diseases (channelopathies)...
- Characterizing the molecular signatures of rare inherited colon cancer syndromesRANDALL 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 ..
- 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...
- Frontiers in Ichthyosis ResearchWilliam 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 ..
- Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)Charlotte Cunningham-Rundles; Fiscal Year: 2013DESCRIPTION (provided by applicant): Primary Immune Deficiency Diseases (PIDDs) include a group of rare diseases whose clinical manifestations encompass multiple clinical specialties...
- 2013 International Research Conference on Tuberous Sclerosis Complex and RelatedSteven L Roberds; Fiscal Year: 2013..complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and rare diseases with overlapping phenotypes...
- Study of TTP: Incidence Rates and Risk FactorsCharles 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 ..
- Biochemical Detection of Prions in BloodJoaquin Castilla; Fiscal Year: 2005..Although rare diseases, the recent outbreak of Bovine Spongiform Encephalopathy and Chronic Wasting disease and the transmission of ..
- Rare Liver Disease NetworkRonald 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...
- Development of Novel Therapies for Pediatric CancerStephan Morris; Fiscal Year: 2004..abstract_text> ..
- Survey Nonresponse Bias, HIPAA, and Mixed Data Collection ModesTimothy 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...
- AA&MDSIF Second Bone Marrow Failure Disease Scientific SymposiumRichard 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...