2023-05-11 03:56:02
Scientists have come up with a new human genome map that is more diverse than the copy that was approved so far, which gives hope to doctors to understand rare genetic diseases in the world.
A report from the newspaper “Washington PostThe American News Agency said the new genome is based on “complete genetic profiles of 47 people from around the world” collected between 2008 and 2015.
And unlike the previous standardized genome that was mainly based on white people, the detected genome includes some African, Asian, Caribbean, American and European ancestry.
The importance of the genome is that decoding it allows doctors to understand the most difficult mysteries of medicine and diseases.
As an example of understanding the work of the genome, the newspaper reports the case of the 10-year-old American girl, Celia Steele, who suffers from a rare disease that prevents her from walking or speaking, and depending on the interpretation of the human genome, scientists discovered that there are two mutations in her body.
Although doctors don’t fully understand how the mutations cause Celia symptoms, they do know that the genetic changes damage the function of an enzyme that helps cells throughout the body receive, process and transmit signals.
Although the human genome sequence provides an explanation for unresolved diseases, understanding it may contribute to a medical revolution in the future, according to the report.
And the newspaper says that the hope of millions of people with rare genetic diseases rose, on Wednesday, after the discovery of a new version of our “genetic code” that is more detailed and may be a decisive factor in the field of medicine.
Until now, doctors had compared their patients to a human genome scale that favored people of European descent.
The new discovery will allow scientists to predict diseases and their harm, says Evan Eichler, professor of genome sciences at the University of Washington.
Eichler stresses that the current new version still needs much more representation from the Middle East, Africa and Oceania, which includes Australia, New Zealand and Papua New Guinea.
This broader version of humanity’s genetic structure builds on earlier drafts of the genome. The most complete version yet revealed 8 percent of the final mysterious portion of our code, including millions of new genetic variants.
Among the early findings of the new discovery is that it has helped lead to groundbreaking research into the genetic underpinnings of autism, a disorder estimated to affect 5.4 million adults in the United States.
The new genome led to the discovery of 150 genes that had not previously been linked to autism, Eichler said.
The human genome is a complete set of human genetic information contained in the sequence of RNA, and this data is used in the field of biomedical sciences, forensic medicine and other branches of science.
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