by ADN

April 2, 2018

Toronto, Canada— Scientists from the University of Toronto have successfully created what they call the ‘Rosetta Stone’ of genomes. The revolutionary project created by the Canadian researchers will yield a better understanding of the human genome and how diseases are formed in a genetic level– in a way that has never been done before.

Over the years, scientists have been struggling to understand how changes or mutations in the human genomes play a huge role in the most fatal diseases in humans. Although it has long been known that mutations do play a role in these diseases, scientists were only able to look at a very small part of the vast and complex human genes, as it seemed nearly impossible to examine the aggregate of it– due to its complexity and because of the lack of technology that would make the task even possible.

And now everything is poised to change, thanks to the ‘Rosetta Stone’ of the human genomes.

In ancient times, historians have struggled to read Egyptian words or hieroglyphs, and were only able to read a couple of them until the Rosetta Stone was finally discovered. It was only then that the historians started to understand everything they’ve read.

Lead researcher Brendan Frey, a University of Toronto professor, says that the case is the same for what used to be the indecipherable human genomes. Frey said that his group’s work is the equivalent of the ‘Rosetta Stone’ in human genomes. He told:

“Most people focus on a single disease. Our approach is to figure out how to read the genome. If you can read the genome, then you can understand all diseases.”

The research Frey and his team have been working on, entitled “The human splicing code reveals new insights into the genetic determinants of disease,” presents a computation model that the scientists used in investigating the causes of autism, spinal muscular atrophy, and colon cancer. The researchers were able to prove in their study that the human genome in its holistic form, and not just mere parts of it, must be closely examined in order to get a better understanding of what contributed to the cause of each disease.

They also found 39 new genes that may cause or contribute to the development of autism in individuals.

The study conducted by Frey and his colleagues is said to be a ‘leap forward’ for the science of genetic medicine. According to Frey,

“We’ve discovered something much more profound… it’s going to move all of genetic medicine a leap forward. What we can do with our system is we can look at any mutation and say, ‘oh, that mutation is going to cause a problem.’”

The study, “The human splicing code reveals new insights into the genetic determinants of disease” has been recently published in the journal Science.

Contributed by Althea Estrella Violeta

Source: Ashley Csanady: The O Canada website: How a Canadian-made Rosetta Stone for the human genome could cure everything from cancer to autism


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