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Unlocking cures encoded in the DNA

 For years, human DNA has been an untapped source of infinite potential. Each and every person on this earth has a unique DNA sequence. One that carries the information passed through hundreds of thousands of years but still distinctive for each individual. Thus,  a team of scientists in Africa is utilizing their position in being part of the most genetically diverse continent on earth to unlock cures encoded in the human DNA.

Humanity’s genetic archive

Since its discovery, the Global North has all but dominated the genetics field. Therefore, Wonkam and his team are working toward correcting that mistake while broadening humanity’s genetic archive. The research continued significantly despite 2020’s overall problems and restrictions. Furthermore, the team is taking huge steps toward understanding old diseases that still affect millions to this day. Through safe experiments, they are collecting and analyzing genome data from thousands of African volunteers in South Africa, Ghana, Nigeria as well as other African countries.

Moreover, they are adding vital data to the genetic archive libraries for scientists around the globe to use, identify and compare the genomic information. This research is playing an important role in filling missing blind spots in the genetic field. 

The Power of African Genetics

“We are all African,” Wonkam said from Cape Town. “But ancestral Africans, like me, who have stayed on the continent for a very long time, have at least 300,000 years of human genetic history in their blood, which makes the variation in the African population thousands of times higher than in any other populations in the world.” 

Unlike the Americas, where populations often are the most genetically similar in the world, Africa’s rich, distinctive and varied dataset attracts scientists.

Curing the sickle cell disease

In Dr. Wonkam’s lab at the University of Cape Town, the team focuses on the genetics of people suffering from sickle cell disease. Sickle cell disease is a disease that causes a misshape in the blood cells. Therefore, it affects oxygen transportation in the body. Furthermore, the disease is most common in African countries and people of African ancestry. In Africa, 2 to 3 percent of the newborn population are born with this sickness.

Moreover, Sickle cell disease symptoms include anemia, frequent pain, increased illnesses due to a weakened immune system, and vision and growth problems. 

“[Sickle cell] mortality for adults has not changed for 40 years” in the United States, where the best treatments are readily available, Wonkam said. “If we put that in context, the disease was described 110 years ago, but there has been only one [primary] medication over the last 110 years and some new ones that were approved [just a few] years ago.”

Due to such encounters of countless different forms of inequity in the medical field, Wonkam decided to spark a change in his home country.  “There is a lack of interest by researchers, or by funders, and someone had to take the battle somewhere. Fortunately, we have a network on the continent that is getting stronger and stronger.”

Creating a base for new treatments

The report, which they published in June 2020, uncovered a dozen of new mutated genes that were shared across the volunteer group. Those discovered are only different by one or more letters from the common population. Therefore, they built some abnormal kinds of proteins. “Basically, every discovery we found in that paper might be a route for a new treatment for sickle cell disease.”

He also is planning to organize a cohort of patients, then follow their data for life. A process that he believes is very vital to the medical and genetics fields. Furthermore, he stated that “Without an African population database, at least 10 percent of variation is not present,” in global archives.” Additionally, “Every variation discovered in Africa [adds] more genomic sequencing in the public database, and that has a value for all studies – not just African studies, but all studies.”

Discovering three million distinctive variants

In less than four years, reports uncovered the undocumented richness of genetics in Africa. According to analysis, the research revealed three million unique genetic variants, which are letters along DNA’s thread that had never been seen in such a location before. Thus, the teams named and recorded every one of them. 

“Three million is a lot,” Mulder said, a bioinformaticist overseeing a team of 50. “We never hit a plateau, we just keep finding novel variants. These are variants that have never been seen, but some populations are walking around with many people having it. The number is quite significant.”

References:

Baker, C. (2021, January 2). African genomics: The scientists unlocking cures encoded in DNA. Health News | Al Jazeera. https://www.aljazeera.com/features/2021/1/1/african-genomics-the-scientists-unlocking-cures-encoded-in-dnaEmanuele, M. (2021, January 1). AFRICA – African genomics: The scientists unlocking cures encoded in DNA (Colin Baker, Al Jazeera). The Global Eye. https://www.theglobaleye.it/africa-african-genomics-the-scientists-unlocking-cures-encoded-in-dna-colin-baker-al-jazeera/

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