The discovery of mutations that bolstered the immune system against bacteria and viruses suggests that the shift to a farming culture in Neolithic times did not drive all of the changes in immunity genes that Europeans carry today.
The discovery of mutations in the BRAF signaling molecule in a large proportion of cutaneous melanomas immediately suggested the prospect of effective therapies for this disease.
Cancer genomics has focused on the discovery of mutations and chromosomal structural rearrangements that either increase susceptibility to cancer or support the cancer phenotype.
Initially, that view was vindicated by the discovery of mutations and knockouts that have large and specific effects on the phenotype.
"Discovery of mutations that predispose to cancer is a useful advance" that could affect medical practice, says geneticist Henry Lin of Harbor-UCLA Medical Center. Harbor-UCLA Medical Center
This hypothesis of 'malfunctioning ion channels' that set the electrical activity in nerve cells that form circuits modulating pain was revived by the discovery of mutations in the potassium channel TRESK [15].
Discovery of mutations in OTM-associated genes of orthodontic patients, including those regulating osteoclast bone-matrix acidification, chloride channel function, and osteoblast-derived mineral and protein matrices, will permit gene therapy to restore normal matrix and protein synthesis and function.
These developments are providing exciting opportunities for genetic mapping of human traits, ranging from accelerated discovery of mutations underlying relatively simple Mendelian disorders to more genetically complex human diseases.
Recent discovery of mutations at the gene encoding interleukin-1 receptor antagonist, has suggested that the early disease named DIRA for "Deficiency in IL-1 Receptor Antagonist" occurring in newborns, has similar features of SAPHO syndrome.
High throughput sequencing approaches have facilitated genome-wide discovery of mutations characteristic of various disease statuses [1].
