Next Generation Sequencing – a key tool for diagnosis of Familial Dyslipidemias

Miranda, B.; Alves, A.C.; Bourbon, M.

http://hdl.handle.net/10400.18/8792

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Authors

Miranda, B.

Alves, A.C.

Bourbon, M.

Abstract(s)

Dyslipidemia, a clinical condition defined by abnormal lipid concentrations in blood, can have a genetic etiology. Familial dyslipidemias are a group of genetic diseases, the majority being rare, associated with several serious conditions. Raised triglyceride levels are associated with pancreatic/hepatic complications. Elevated cholesterol levels promote atherosclerosis and increase patients' cardiovascular risk, and low levels of this particle are associated with neurological manifestations and poor weight progression. Nowadays, with the advance in genome sequencing technologies, the investigation and diagnosis of these disorders is expanding