Introduction To Molecular Genetics

Genetic knowledge is being rapidly introduced into clinical medicine. Knowledge on genes and gene defects, gene expression, and gene products have been gathered as a result of the human genome project and large-scale resequencing projects at a rapid pace.1,2 The genetic cause of the vast majority of important monogenic disorders is nowadays known, and more rare disorders are being unraveled quickly. Developments in genomics and sequencing technologies enable molecular geneticists with an accelerated and detailed characterization of genetic defects, genetic predisposition, and/or genetic background of individual patients. This also provides extensive knowledge on the molecular pathophysiology.