New Technique Greatly Improves the Search for Disease-Related Genes

How do you identify a gene that causes (or protects against) a disease? Traditionally, alterations in the sequence of proteins (and, later, of genes) were associated with a particular disease. The invention of techniques to sequence nucleic acid made that process possible on a grand scale.

But association is not causation. To really prove that a particular mutation in a gene caused a disease, we would ideally evaluate what happened in healthy (or diseased) tissue when a particular gene was turned off (or on). The discovery of RNA interference (NEJM JW Gen Med Dec 31 2003) allowed researchers to selectively turn off a particular gene and see what happened. RNA interference works primarily by interfering with the translation of mRNA into prote…