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).
for detecting aneuploidy and monogenic disease
(5, 7-9, 17-19).
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.