monogenic disease


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monogenic disease

A disease that is inherited from one generation to the next in classic mendelian fashion.
See also: disease
References in periodicals archive ?
Pre-marital counselling and screening is one method of decreasing the likelihood of children being born with monogenic diseases.
Most diagnostic exomes on the market today have not been optimized, and have sensitivities of between 20% and 50% for monogenic disease.
As a monogenic disease, MODY provides "a valuable opportunity to directly study in more detail the genetic mechanisms underlying the disease and not be influenced by other factors, such as insulin resistance," said senior author Rohit N.
Neonatal diabetes is a monogenic disease occuring in the first 6 months of life with functional or cellular disorders in the pancreatic beta-cells (1-3).
hESC lines carrying a monogenic disease affecting the lung, such as cystic fibrosis, are available.
About AT132 for X-Linked Myotubular Myopathy : AT132 is the Audentes product candidate being developed to treat XLMTM, a rare monogenic disease characterized by extreme muscle weakness, respiratory failure and early death, with an estimated 50% mortality rate by 18 months of age.
More recently, with the advent of whole-exome sequencing, pathogenic mutations can be readily identified for almost any monogenic disease, and this approach has proven to be particularly useful to identify novel or rare mutations in families (3) and to aid in establishing a more definitive diagnosis of individuals with unclear clinical phenotypes (4, 5).
Wilson disease (WD) represents a monogenic disease resulting in copper accumulation within tissues.
FH is a good example of a monogenic disease with high prevalence, difficult clinical diagnosis, high risk of cardiovascular disease (CVD), and available effective treatment when early diagnosis is made (10).
Contract notice: Pa 2017-0-128: Supply of reagents and material for gene studies (hla-transplantation, Monogenic diseases and snps), Serological techniques and cell culture material, For the university hospital 12 de octubre.