New York, Feb 10 IANS | 9 months ago

Scientists at the San Francisco-based Gladstone Institutes have found a novel way to efficiently edit the human genome one letter at a time - discovering how to efficiently and accurately capture rare genetic mutations that cause disease and fix them.

This boosts researchers' ability to model human disease and pave the way for therapies that cure disease by fixing 'bugs' in a patient's genetic code, says the research.

"Advances in human genetics have led to the discovery of hundreds of genetic changes linked to disease, but until now we've lacked an efficient means of studying them," explained Bruce Conklin.

"To meet this challenge, we must have the capability to engineer the human genome with tools that are efficient, robust and accurate. And the method that we outline in our study does just that," he added.

The researchers designed a special fluorescent probe that would distinguish the mutated sequence from the original sequences.

They were then able to sort through both sets of sequences and detect mutant cells - even when they made up as little one in every thousand cells.

This is a level of sensitivity more than one hundred times greater than traditional methods.

The team then applied these new methods to induced pluripotent stem cells, or iPS cells.
These cells, derived from the skin cells of human patients, have the same genetic makeup -- including any potential disease-causing mutations -- as the patient.

The research team first used a highly advanced gene-editing technique called TALENs to introduce a specific mutation into the genome.

"Our method provides a novel way to capture and amplify specific mutations that are normally exceedingly rare," said Conklin.

The high-efficiency, high-fidelity method could very well be the basis for the next phase of human genetics research, said a report from Gladstone Institutes.

(Posted on 10-02-2014)

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