In some cases, populations of individuals with a common disease contain subsets of individuals whose disease has a monogenic cause (i.e., rare disease inside a common disease). New data produced by genome wide association studies suggest that disease pathways have genetic correlates, and that ...
gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. ...
这个句子的意思是,一种非常罕见的疾病将会有一个非常低的基线,也就是说这种疾病的发生率非常低。 So a very rare disease will have a low baseline and just a few cases of it in one place will be classified as an epidemic;as opposed to more common diseases ,such as the flu, that have a hig...
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Common disease–common variant hypothesis (CDCV hypothesis). The model that complex disease is largely attributable to a moderate number of common variants, each of which explains several per cent of the risk in a population. Heritability The proportion of the phenotypic variance in a population th...
REVIEWARTICLEpublished:04September2013doi:10.3389/fendo.2013.00115Type3deiodinaseandconsumptivehypothyroidism:acommonmechanismforararedisease..
Clinical presentation can vary from asymptomatic until end-stage renal disease due to lower urinary tract obstruction. This case highlights the important clinical and radiological features of female hypospadias. Surgical treatment remains the mainstay management for this entity. Case presentation We report...
“As Rare Disease Day 2025 approaches, it is imperative to reaffirm our commitment to promoting inclusive, ethical, and patient-centered research methodologies. Effective collaboration among all stakeholders (patients, researchers, and clinicians) is crucial for the development of transformative solutions ...
1、The rare disease,by,ALS Ice Bucket Challenge,The Ice Bucket Challenge, sometimes called the ALS Ice Bucket Challenge, is an activity involving dumping a bucket of ice water on someones head to promote awareness of the disease amyotrophic lateral sclerosis (ALS) and encourage donations to resea...
We identified only 1 LoF mutation (p.Thr79del) in a patient clinically diagnosed with Alzheimer's disease and a positive family history of ALS. We did not observe enrichment of rare variants in EOAD patients compared to controls, nor of rare variants affecting NFκB induction. Of 3 common ...