6. Novel Targets for Medicines

Researchers find new targets for medicines because they are getting better in understanding the link between genetic variation and disease.

For example, patients with cystic fibrosis have one of a number of variations (mutations) in a protein called ‘CFTR’. If the protein has a specific mutation known as ‘G551D’, the recently authorised medicine ‘ivacaftor’ can replace the function of this protein.

For patients with melanoma, the medicine ‘vemurafenib’ can be used to block the action of the mutated BRAF enzyme. This only works if the patient has the BRAF mutation known as ‘V600E’.

Within cancer many targets have been identified through pharmacogenomics and pharmacogenetics research. This is discussed in more detail in the following section.