The fact that most proteins in the nuclear envelope would be specific for certain tissue types is a very exciting development. This may finally enable us to understand this ever-growing spectrum of inherited diseases as well as new aspects of tissue-specific gene regulation." The findings build ...
Inheritedcornealdiseasescompriseagroupofclinicallyandgeneticallyheterogeneousdisordersthatcanleadtobilateralseverelyimpairedvisionand/orblindnessAdvancesinnextgenerationsequencing(NGS)technologieshaverevolutionisedclinicalgeneticsoverthepastfiveyearsTheapplicationofNGS,incombinationwithgenomewideassociationstudies,tothefieldof...
Each inherited metabolic disorder is quite rare in the general population. Considered all together, inherited metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In certain ethnic populations, such as Ashkenazi Jews (Jews of central and eastern European ancestry), the rate of inhe...
Muscular dystrophy(MD) is a group of inherited diseases in which the muscles that control movement (called voluntary muscles) progressively weaken. In some forms of this disease, the heart and other organs are also affected. There are nine major forms of muscular dystrophy: Myotonic Duchenne Becke...
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associate...
(removing blood). In Wilson's disease, there is an inherited abnormality in one of the proteins that control copper in the body. Over time, copper accumulates in the liver, eyes, and brain. Cirrhosis, tremor, psychiatric disturbances, and other neurological difficulties occur if the condition ...
There is no specific test for epilepsy, and it is only diagnosed when all other causes of seizures have been ruled out. For this reason, it is also called idiopathic epilepsy because the actual cause is unknown. However, scientists believe that there is an inherited disorder that causes a ch...
In addition to an increasingly westernised diet, the traditional Chinese diet also plays a part, with the quantity and quality of rice intake linked to the risk of type 2 diabetes. Familial factors including inherited genetic variants are important, although differences in the genetic architecture ...
Alcoholic-associated fatty liver disease:About one-third of people who drink heavily progress to cirrhosis. Liver Disease in Children Liver disease can affect children as well as adults. It could be caused by: Viruses Genetic (inherited) diseases ...
These are of two types. First, there are the cases of meiotic drive associated with sex chromosomes. Here, one of the sex chromosome gains a transmission advantage during male meiosis, such that it is inherited by more than half of the progeny of a male (Lyttle, 1991). Second, there ...