Genetics and Molecular Biology in Gastroenterology

Genetics and genomics are beginning to strongly influence the care of patients with GI conditions. From common disorders such as colorectal cancer, pancreatitis and multiple polyps; to rare conditions like hereditary hemorrhagic telangiectasia, knowledge of genomic developments is increasingly highly useful to doctors and their patients. And in the research realm, genomic analyses are beginning to dissect the etiology of clinically important but enigmatic conditions such as irritable bowel syndrome.

Molecular analyses have become an integral part of biomedical research as well as clinical medicine. The definition of the molecular and genetic basis of many human diseases has led to a better understanding of their pathogenesis and has in addition offered new perspectives for their diagnosis, therapy and prevention. Genetically, human diseases can be classified as monogenetic, complex genetic and acquired genetic diseases. Based on this classification, gene therapy is based on four concepts: gene substitution, gene augmentation, block of gene expression or function as well as DNA vaccination. While recent developments are promising, various delivery, targeting and safety issues need to be addressed before gene therapy will enter clinical practice.

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