GENETIC disordersRETINAL degeneration treatmentDISEASE risk factorsInheritedcornealdiseasescompriseagroupofclinicallyandgeneticallyheterogeneousdisordersthatcanleadtobilateralseverelyimpairedvisionand/orblindnes
Inherited Causes of JaundicePresented herein are four casesa 36 year old man with congenital spherocytosis, a 26 year old physician with Gilbert''s disease, a six month old girl with Crigler-Najjar syndrome, a 12 year old boy with Dubin-Johnson syndromewhich illustrate the problems of jaundice...
These disorders affect “the breakdown or synthesis of proteins, lipids and sugars essential for the normal function of our body,” says Eva Morava, MD, PhD, the director of the Inherited Metabolic Diseases Program at the Icahn School of Medicine at Mount Sinai in New York City, NY. “Untre...
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...
of the patients with early-onset disease. In all of these patients, the mutation leads to excess production in the brain of a specific form of a small protein fragment called ABeta (Aβ). Many scientists believe that in the majority of sporadic (for example, non-inherited) cases of ...
Inherited (genetic) disorders result in the accumulation of toxic substances in the liver, which may lead to tissue damage and cirrhosis. Examples include the abnormal accumulation of iron (hemochromatosis) or copper (Wilson disease). In hemochromatosis, patients inherit a tendency to absorb an exces...
Aneurysms are caused by damage to the inside wall of your aorta that creates a weak spot. Over time, the pressure of blood pumping through your blood vessels causes the weak spot to bulge or rupture. This can be part of the process of certain inherited diseases, such as Marfan syndrome. ...
The exact causes of type 2 diabetes are not fully understood, but there are several risk factors that can increase your likelihood of developing the condition. These include: Some ethnic groups have a higher inherited incidence of it. African Americans, Latinos, Native Americans, Asian Americans,...
In humans, genomic instability is often associated with premature ageing, predisposition to various types of cancer and with inherited diseases. Two types of elements contribute to instability leading to rearrangements: suppressors, which function in trans and include replication, repair and S-phase ...
Metabolic diseases result from failure of metabolism that causes the body to have excess or small amounts of the essential substances needed to stay healthy. Some inherited metabolic disorders are as follows:1. Wilson’s disease: It is caused due to the accumulation of copper in the liver, ...