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A breakthrough in “chemical surgery” that can correct a type of genetic mutation behind a host of diseases has been unveiled by researchers.
Scientists are hopeful that the approach could offer new ways to understand – and even one day tackle – certain human genetic diseases by correcting mutations in a patient’s body.
There are tens of thousands of human genetic variations associated with disease. While many diseases involve multiple variations, a large proportion, including sickle cell anaemia, arise as a result of just one genetic “misspelling” – known as a “point mutation”.
In other words, there is an error in one of the “rungs” of the DNA double helix – structures that are made of pairs of molecules known as “bases” that come in four forms dubbed A (adenine), T (thymine), C (cytosine) and G (guanine). While A pairs with T, C pairs with G.
About half of the 32,000 known point mutations that are linked to diseases are down to bases that ought to be G instead being A and their corresponding pair being a T instead of...