The Human Genome: An Introduction

Abstract

During the past two decades, tremendous progress has been made in genetics and genomics. Diseases that run in fam- ilies have been recognized for many centuries, but it was only in the early 1980s that the first mutations in a gene responsible for a disease could be identified. Subsequently, numerous dis- coveries of disease-related mutations in other genes have been found, initially in rare single-gene disorders, but more recently also in common disorders such as Alzheimers disease and cancer. Applications of this newly discovered information pro- vide new opportunities for progression in medical science, including the design of genetic tests to diagnose or predict (subtypes of) diseases, the redefinition of diseases and the understanding of their pathogenesis based on the molecular mechanisms behind them, and the selection of new target mol- ecules for drug discovery. The time has now come that such applications will transfer further toward the day-to-day prac- tice of the clinician and transform the practice of clinical med- icine. For this to happen, an appropriate education and understanding of the basic concepts of genetics and genomics by clinicians is needed. This article aims to provide a general introduction of these concepts for clinicians not familiar with these fields. The list of references and the websites indicated in the manuscript should encourage the reader to get a broader appreciation of this research area