Resultados de búsqueda por tipo de discapacidad
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Long non-coding RNAs (lncRNAs) are untranslated transcripts with longer than 200 nucleotides (nt), which possess many of the structural characteristics of mRNAs, including a poly A tail, 5′-capping, and a promoter structure, but no conserved open reading frame. Moreover, lncRNA expression patterns change during differentiation and exhibit a variety of splicing patterns. Many lncRNAs are […]
…Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by […]
…This paper considers the design and interpretation of clinical trials comparing treatments for conditions so rare that worldwide recruitment efforts are likely to yield total sample sizes of 50 or fewer, even when patients are recruited over several years. For such studies, the sample size needed to meet a conventional frequentist power requirement is clearly […]
…Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification. The genetic definition of RDs represents a prerequisite for being diagnosed, for having a […]
…Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services. Rare diseases often present in childhood, many are chronic, some life threatening and others associated with significant disability. However, diagnosis is often delayed, because of lack of knowledge and experience of […]
…A rare or orphan disorder is any disease that affects a small percentage of the population. Most genes and pathways underlying these disorders remain unknown. High-throughput techniques are frequently applied to detect disease candidate genes. The speed and affordability of sequencing following recent technological advances while advantageous are accompanied by the problem of data deluge. […]
…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. They represent thus an important public health concern. CEMARA is based on a n-tier architecture. Its main […]
…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. Three to 4% of children and 6% of the population in Europe are affected. It is a true public health stake since […]
…BackgroundRare diseases, because of their intrinsic characteristics – large number of disorders and syndromes, low individual prevalence, severity, often limited information, lack of therapies – can benefit from collaboration and sharing of expertise while maximising the limited resources available for these conditions. Therefore, the development of Centres of Expertise (CEs) and European Reference Networks (ERNs) […]
…Clinical trials require great effort, time, expertise, and money. For clinicians at university hospitals with their full work load of teaching and medical care, the planning of an investigator-initiated clinical trial seems almost unthinkable. Despite their expertise in distinct diseases, university clinicians lack the time necessary to organize the funding and to initiate and conduct […]
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