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Although the pace of gene discovery for rare genetic diseases has accelerated during the past decade, in part, due to the success of the Human Genome Project, translation of these discoveries to clinical utility has lagged behind. In particular, identification of the gene responsible for a Mendelian disorder immediately presents the opportunity for molecular genetics […]
…This analysis of national plans and strategies on RD in Europe shows that a few countries have already set up national plans. Existing national plans show a good consistency, but also a quite different stage of progress, depending on start date as well as on resource allocation. Several other EU countries have launched actions on […]
…The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the ‘Building Consensus and Synergies for the EU Registration of RD Patients in Europe’ (EPIRARE) project convened a meeting with experts […]
…Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined. Their individually low prevalence requires special combined efforts to address them so as to improve diagnosis, care and prevention. Though it is difficult to develop a public health policy specific to each rare disease, it is possible […]
…Research emphasis on rare diseases and orphan products remains a major focus of the research Institutes and Centers of National Institutes of Health (NIH). NIH provides more than USD 31 billion annually in biomedical research and research support. This research is the basis of many of the health advances in rare and common diseases. Numerous […]
…Genomics has revolutionized the study of rare diseases. In this review, we overview the latest technological development, rare disease discoveries, implementation obstacles and bioethical challenges. First, we discuss the technology of genome and exome sequencing, including the different next-generation platforms and exome enrichment technologies. Second, we survey the pioneering centers and discoveries for rare diseases, […]
…Rare diseases (RD) are becoming increasingly important as possible targets of new forms of treatment, as a valuable source of a novel insight in fundamental lows of biology, and in the specific mechanisms of many diseases. Molecular methods have created a better diagnosis and oftentimes treatment. RDs pose significant problem for the patients, since their […]
…Taught since medical school to concentrate on the more common disease entities, physicians may become insensitive to the possibility of encountering a rare disease (“zebra”) or even an unusual presentation of one. The personal experience of one of the authors prompted this article, presenting an alternative view. We stress the need to carefully consider at […]
…Background:Both ethical and economics concerns have been raised with respect to the funding of drugs for rare diseases. This article reports both the cost-effectiveness of eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria (PNH) and its associated opportunity costs. Methods:Analysis compared eculizumab plus current standard of care v. current standard of care from a publicly […]
…Orphan drugs are intended for diseases with a very low prevalence, and many countries have implemented legislation to support market access of orphan drugs. We argue that it is time to revisit the special market access status of orphan drugs. Indeed, evidence suggests that there is no societal preference for treating rare diseases. Although society […]
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