Breakthrough in battle to cure genetic illnesses

The process allows single letter mutations not only to be introduced to cells but accurately identified.

Using the technique, researchers were able to spot one mutant in a sample of 1,000 cells.

The research raises the prospect of accurately modelling human diseases in the laboratory, as well as finding cures that fix specific disease mutations.

“Our method provides a novel way to capture and amplify specific mutations that are normally exceedingly rare,” said scientist Dr Bruce Conklin, from the Gladstone Institutes in California.

The human genetic code, written in DNA, is made up of repeating sequences of four chemical “building blocks” designated by the letters A, C, T and G.

Substituting just one letter for another can lead to devastating diseases such as sickle cell anaemia, haemophilia, and the accelerated ageing disease progeria. Cystic fibrosis, which destroys the lungs, is caused by the deletion of just three code letters.

Previous attempts at curing or diagnosing genetic faults have stumbled over the difficulty of finding or replacing very small errors in DNA.

“Our high-efficiency, high-fidelity method could very well be the basis for the next phase of human genetics research,” said Dr Conklin. “Some of the most devastating diseases we face are caused by the tiniest of genetic changes.”