Thursday, April 18, 2024

A scientific breakthrough.. A new human gene offers hope for treatments for the most complex genetic diseases


Scientists have discovered a new human genetic map that is more diverse than any previously recognized copy, giving doctors hope for understanding the world’s rarest genetic diseases.

A message from the newspaper “The Washington PostThe US news agency reported that the new genome was based on “complete genetic profiles of 47 people from around the world” collected between 2008 and 2015.

Unlike the previous standardized genome, which was based mainly on whites, the detected genome includes some people of 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 disease.

As an example of understanding the function of genes, the paper reports the case of 10-year-old American girl Celia Steele, who suffered from a rare disease that left her unable to walk or talk, and scientists discovered two mutations in the human genome, depending on its interpretation.

Although doctors don’t fully understand how the mutations cause celiac symptoms, they do know that genetic changes damage the function of enzymes that help cells throughout the body receive, process, and transmit signals.

Although the human genome sequence provides an explanation for unsolved diseases, understanding it could contribute to future medical revolutions, the report said.

The hope of millions of people suffering from rare genetic diseases was boosted on Wednesday after the discovery of a new version of our “genetic code”, which is more detailed and could be a decisive factor in the medical field, the newspaper said.

Until now, doctors compared their patients to those of European descent with a favorable human genetic makeup.

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The new discovery will allow scientists to predict diseases and their harms, says Evan Eichler, a professor of genetic sciences at the University of Washington.

Eichler insists that the current new edition needs even 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 makeup builds on earlier drafts of the genome. A more complete version revealed 8 percent of the final mystery of our code, including millions of new genetic variants.

Among the initial findings of the new discovery, it led to groundbreaking research into the genetic underpinnings of autism, which affects an estimated 5.4 million adults in the United States.

The new genome led to the discovery of 150 genes not previously linked to autism, Eichler said.

The human genome is the complete set of human genetic information in the sequence of RNA, and this data is used in the fields of biomedical science, forensic medicine, and science.

Nadia Barnett
Nadia Barnett
"Award-winning beer geek. Extreme coffeeaholic. Introvert. Avid travel specialist. Hipster-friendly communicator."

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