Genetics for Pulmonologists: The Molecular Genetics Basis of Pulmonary Disorders (REMEDICA Genetics S.)

Synopsis Our understanding of the relationship between genetics and pulmonary disorders is still evolving. In 1989 cloning of the gene that, when mutated, causes cystic fibrosis marked a great advance in the study of genetic diseases. Yet, over a decade later, understanding of how this genetic defect leads to colonization by bacteria and inflammation in the lung remains elusive. This publication provides an overview of lung diseases for which the genetic defect has been defined. It aims to provide an easy-to-use manual with concise reviews of genetic diseases that a pulmonologist might encounter.