What if it was possible for scientists to edit a person’s genetic code flawlessly, without consequence while curing one’s devastating disease? Dr Bruce Conklin, a lead researcher from the Gladstone Institutes in California, US has been trying to do just that. There are specific mutations that are altered in a person’s genome when they wind up with unwanted syndromes and while rare, some horrific disorders. Florescent probing may offer a glimpse into areas that scientists have never been able to see before.
There have been many advances in human genetics which have identified the link between disease and genetic mutations. In research published in the Journal of Nature Methods, Dr Conklin has proved to have made a huge leap further by looking for a way to accurately capture and fix the unwanted cell transformations. “Until now we’ve lacked an efficient means of studying them,” he says.
Conklin’s method is a new and exciting one that amplifies these exceptionally rare mutations. DeoxyriboNucleic Acid, or DNA is made of four chemical “building blocks”. They are designated by the letters A, C, T and G. DNA is formed as a repetition of these lettered sequences.
Along with his team, Dr Conklin has developed a unique fluorescent probe that can distinguish a mutated sequence from the other original sequences. Detection of mutant cells within one’s genetic code can be like looking for a needle in a haystack, however, the researchers were able to detect them even in ratios as little as one to one thousand. Imagine a world where one’s future could be altered, so that they would not have to suffer from incurable diseases. This may soon be possible with a new from of gene editing.
This level of testing is highly sensitive and extremely more accurate than the labor intensive process by which scientists have been known to work. Some gene-editing practices, while successful at modifying the genetic code, include the use of genetic markers that leave a “scar” on the newly adjusted genome. Once these “scars” are made, they can subsequently affect the newly forming repetitions of sequences. Yuichiro Miyaoka, one of Gladstone’s Research Scientists has been quoted as saying the testing is “more than one hundred times greater than traditional methods.”
This is promising new science for those suffering ailments such as Cystic fibrosis which primarily effects lung function, the blood disease sickle-cell anemia, Charcot Marie tooth disease which causes muscle weakness, haemophilia which prevents blood from clotting normally, and progeria the “fast-tracked aging” disease.
One may remember the “Elephant Man”, Joseph Merrick, who was known for having Proteus syndrome. This new research may have helped this man to develop a normal amount of human tissue.
In an interview, Dr Conklin has said that “Some of the most devastating diseases we face are caused by the tiniest of genetic changes.” He and his fellow scientists are hopeful that these new techniques will be “the basis for the next phase of human genetics research.” It could help to indicate what remedies may be most effective when doctors come to a diagnosis.
It is unknown as of yet how long people suffering from disease will have to wait to benefit from the invention of the florescent probe. As scientific development advances, it may soon be possible to eradicate unwanted parts of one’s genetic code by way of simply editing or hitting delete without any ill after affects to the human genome.
By Katie Sevigny