Define Rare disease. Rare disease synonyms, Rare disease pronunciation, Rare disease translation, English dictionary definition of Rare disease. n. A disease that is relatively rare, for which the development of drugs is considered to be commercially non
Rare diseases in general refers to the population accounted for 0.65‰~1‰ population who are attacked by rare disease,while China's official did not declare the right definition of the rare disease.In this paper,through literature search,questionnaire survey research methods to research the current...
The site lists all ofresearch in rare diseases the studies and the participating sites.The Rare Diseases Clinical Research Network II The RDCRN has developed a unique web-based contact(RDCRN) registry for patients who wish to learn about their disease Currently, the RDCRN consists of 19 Rare ...
Given the primary focus of GARD is to manage rare disease following the US definition [1], our model would effectively assist the GARD curation effort to systematically capture U.S.-based EI with specificity at the state level. This is exemplified by the comparison of “Rett Syndrome” as ...
the definition of rare disease in the United States is a condition that affects fewer than 200,000 people. In Europe, rare disease is defined as affecting fewer than 1 in 2000 people. Other countries have their own official definitions of a rare disease, but one thing remains the same: the...
(B) Represents the forty-one associations where there was a match between the target gene, associated phenotype, and the diagnosis drugs are prescribed for that target that gene, for p < 0.001. The x-axis shows the disease description and tracks from top to bottom show -log10 P-value...
Our research highlights disparities in even the definition of ‘rare disease’. Although published national definitions of the point prevalence of RDs range from 5 to 80 per 100 000 population (Fig. 4), the distribution of the point prevalence of individual diseases in the Orphanet database shows...
Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathies and one of the most frequent genetic neuromuscular disorders, with a prevalence of 1:2500 [1]. CMT can manifest in heterogeneous ways, with variable phenotypic presentation even amo...
Screening for pathogenic variants in the diagnosis of rare genetic diseases can now be performed on all genes thanks to the application of whole exome and genome sequencing (WES, WGS). Yet the repertoire of gene–disease associations is not complete. Several computer-based algorithms and databases...
Companies need to learn how to use every piece of information that might help them to identify patients who experience many of the typical symptoms of the disease but have not been diagnosed. Sufferers of rare diseases might by definition leave no digital trace in ...