Genetic Anomalies

With the advancement of biomedical technology that allows for the interrogation of the human genome, our understanding of genetic anomalies and their effects on human disease has progressed exponentially. The term genetic anomalies describes physiologic conditions that arise from mutations in our gene structures or genome. Although Gregor Mendel described the concept of genetic inheritance using plant hybrids in 1865, it was not until the 1950s that the basic structure and organization of deoxyribonucleic acid (DNA) in humans was understood. The human genome is made up of nuclear DNA that is organized into 23 chromosome pairs encoding approximately 25,000 genes. Of the 23 chromosomes, 1 chromosome pair encodes sex and the 22 others are labeled autosomes. The DNA on autosomes writes the blueprint for proteins ...