DNA-based technologies

Let’s look at some of the major technology platforms whose primary focus is DNA. Thanks to the Human Genome Project and other research efforts, we know a great deal more now about the makeup of human DNA and its functions. Our review will be short and offers no more than a snapshot of a complex, dynamic and continually changing set of technologies and scientific disciplines.

Genomics

Genomics is the study of the structure and function of genes, with a major focus on identifying genes involved in human diseases. More than 1,000 genes have been linked to specific rare genetic diseases. Initially, studies focused on diseases caused by mutations in a single gene. Researchers analyzed multiple generations of families with a high incidence of the disease, and then scanned their genomes for regions showing similarities. That DNA region was then isolated so that researchers could pinpoint the exact mutation responsible for the disease. Such family studies led to the discovery of the gene mutations responsible for diseases such as Huntington’s, Duchenne muscular dystrophy, and cystic fibrosis, among many others. If you have these gene ....²