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The Second meeting on Rare Diseases in South Eastern Europe (SEE) was held in Skope, Macedonia on November 15-16, 2013. Objective and main data: Rare diseases (RD) are a major problem in developed and especially in countries without affluence. 6-8% of every population suffers from RD. The cumulative effect of RDs on the health system […]
…Purpose: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. Methods:Each accepted study participant was extensively phenotyped. A subset of participants and selected family members (29 patients and 78 unaffected family members) was […]
…There are more than 6000 rare diseases (defined as affecting
…Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are arguably even more valuable since there is difficulty in assembling cohorts of adequate size for study. Recently, the […]
…The Orphan Drug Act encourages the development of products for rare diseases and conditions. Many conditions that stand to benefit from stem cell-based products are rare diseases. We address the Orphan Drug Act in relation to the development of stem cell-based products. Resumen realizado por los autores recogido de la publicación
…Explicación de Orphanet, portal de información sobre medicamentos huérfanos y enfermedades raras
…Background:Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models. To improve access to treatments, the Accelerated Approval (AA) regulations were implemented allowing the use of surrogate endpoints to achieve drug approval and accelerate development of life-saving therapies. Many rare diseases have not utilized AA due to the difficulty in […]
…Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size. Registries for rare conditions are thus extremely powerful tools for overcoming recruitment problems. Here we present and discuss the international experience with alpha1-antitrypsin deficiency achieved by the Alpha One International Registry, and national experience […]
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