Fundamental research is the basis for understanding and treatment of many human diseases

Abstract 

There are numerous examples of how fundamental research has been required to understand and treat human disease. This article focuses on three human diseases of lipid metabolism in which advancements in understanding and treatment would not have been possible without basic research. Fabry disease is an inherited metabolic disorder caused by the lack of a specific enzyme in glycosphingolipid catabolism. Cardiovascular disease is a complex and multifactorial disease but as many as half of the cases can be attributed to abnormal levels of plasma cholesterol. The incidence of liver disease is increasing due to the current epidemic of obesity. It is only recently that curiosity-driven research has yielded valuable insight into the mechanism by which liver disease evolves.

Keywords: Sphingolipids, Fabry disease, Glycosphingolipids, Cholesterol, Heart disease, Liver disease, Phosphatidylcholine, Muscular dystrophy