Scientists have created a new map of the human genome and it has the potential to revolutionize medical research. Human diversity is not represented by the original human genome published 20 years ago and is primarily from one person.
The most recent iteration, the pangenome, comprises information from 47 individuals from Africa, Asia, the Americas and Europe. It is believed that it would result in new medἰcations and therapἰes that benefit a lot more individuals.
Dr. Eric Green, director of the National Human Genome Research Institute in Bethesda, Maryland said:
“This represents a tremendous scientific achievement. A pangenome that better reflects the diversity of the human population will enable scientists to better understand how genetic variation influences heἀlth and dἰsease and moves us to a future in which genomic medicine benefits everyone”.
The pangenome consists of 47 distinct DNA maps from individuals with various ancestries which may be analyzed and integrated using modern computing methods to identify significant genetic variations.
What is the Goal of the Geneticists?
Although the goal is to create more effective medἰcἰnes for more patients, geneticists are worried that the study could be abμsed. Prof. Muzlifah Haniffa of the Newcastle-based Sanger Institute of Science said should not be construed incorrectly.
“Genetic information about diversity should be used responsibly and not to provide evidence of differences in race, which is a social construct. We have to understand what it shows and importantly, what it doesn’t show. We have to make sure that taking information very superficially to establish false racial characteristics does not happen.”
When did the Human Genome Was Essentially Finished?
In 2003, the human genome was essentially finished. It is a diagram illustrating the fundamental chemἰcals that make up human DNA. It helps scientists find the genes responsible for diseases so they can create better medicines.
It has prompted the improvement of canceɼ treatments and the creation of diagnostic tools for genetic diseases like Huntington’s disease. The disadvantage is that a single person—an American with European and African ancestry provided 70% of the genome.
Dr. Karen Miga of the University of California stated:
“Having one map of a single human genome cannot adequately represent all of humanity. This reboot can be the foundation for the scientific community to have more equitable healthcare in the future”.
A more representative genome, in the opinion of Dr. Zamin Iqbal, a senior researcher at the European Bioinformatics Institute of the EMBL close to Cambridge, will result in better treἀtments for more people.
In two recent studies conducted in the US, the UK and Ireland, children of European heritage were twice as likely to receive a genetic diagnosis than those of African ancestry. According to Dr. Alexander Arguello, head of programs at the National Human Genome Research Institute, the new project aimed to alter those results.
The new pangenome consists of 47 individuals, half of whom are indigenous people from sub-Saharan Africa, a third are from the Americas, 13% are from China and 2% are from Europe.
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However, this is only the beginning of a comprehensive campaign to reflect the diversity of the global population more accurately. The first goal is to raise the total to 350.
After that, the scientists in charge of the mostly US-based effort intend to broaden participation and variety even more by collaborating with international organizations on what they hope would be phase two of the human genome project. Please refer to the tweet that follows for further information:
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease. https://t.co/8gxssO3me6 #TheGenePBS #NIH
— NIH (@NIH) April 15, 2020
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