2023-05-10 18:42:37
- Pallab Ghosh
- Science Correspondent, BBC News
The researchers say the new map better reflects human diversity.
The scientific community has just released an updated map of all human DNA, something that might help transform medical research.
The original genome was published 20 years ago, but was recreated from the genetic information of a single personsomething that does not represent the totality of human diversity.
The latest version of the genome has been given the name “pangenome” because it contains genetic information from 47 people.from Africa, Asia, the Americas and Europe.
It is hoped that it will lead to the development of new drugs and treatments for a much wider range of people.
According to Eric Green, director of the Human Genome Research Institute in Bethesda, Maryland (USA), the research that has just been published in the journal Nature might revolutionize the studies médicos.
“This represents a tremendous scientific advance,” he stresses.
“A pangenome that reflects the diversity of the human population will allow scientists to better understand how genetic variations influence health and disease, and propel us toward a future where medicine brings benefits to all.”
interpreting the data
image source, RICHARD JONES/PHOTO LIBRARY OF SCIENCE
Deoxyribonucleic acid (DNA) is the molecule that carries genetic information for the development and functioning of the organism.
The pangenome consists of 47 DNA maps from people with different ancestral lineages, which can also be combined and compared – through new software- to identify important genetic differences.
The goal is to be able to develop more effective treatments for more people, but genetic scientists also know that the research might be misused.
Professor Muzlifah Haniffa, from Newcastle’s Sanger Institute, was not involved in the research but argues that the science should not be misunderstood.
“Genetic information on diversity should be used responsibly, and not to provide evidence regarding differences between races, which are a concept created by society,” he says.
“We have to understand what it shows and, more importantly, what it doesn’t show. We have to make sure that it doesn’t happen that information is taken too superficially to establish false racial characteristics.”
Most of the human genome was completed in 2003 and provides a map of the basic chemical elements that make up human DNA.
Researchers use it to identify genes involved in diseases in order to search for better treatments. It has led to the development of cancer therapies and the development of tests to predict the onset of hereditary conditions, such as Huntington’s disease.
image source, DAVID PARKER/PHOTOGRAPHIC LIBRARY OF SCIENCE
It took hundreds of machines 13 years to be able to read the DNA that makes up a human.
The downside is that 70% of the genome came from a single individual: an American male of both European and African ancestry.
Karen Miga, of the University of California, Santa Cruz, says this overlooks important genetic differences that play a role in disease in people of other origins.
“The map of a single human genome cannot adequately represent all of humanity. This reset may be the foundation for the scientific community to have more equitable healthcare in the future,” he says.
Although the map of the human genome that researchers currently use contains a large amount of African DNA, contradictoryly, it is the population that has the least access to medicine, according to Ewan Birney, deputy director general of the European Molecular Biology Laboratory (LEBM) near Cambridge.
“The most important place in the world to obtain genomes is sub-Saharan Africa. It’s where we started as a species and it has the greatest genetic diversity. So one African American genome is not enough to represent that diversity.” he defends.
best treatments
Zamin Iqbal, a senior researcher at LEBM’s European Institute for Bioinformatics, believes that a more representative genome will lead to better treatments for more people.
“Expanding the range of populations present in the human reference genome will reduce a longstanding implicit bias in human genetics studies. Humans are diverse, and it is important that our analytical methods incorporate that.”
Two recent studies in the US and the UK and Ireland found that children of European descent are twice as likely to be diagnosed through genetic testing as those of African descent.
Alexander Argüello, program director at the National Human Genome Research Institute, says the goal of the new project was to change those results.
“The hope is that once enough diversity is captured, the same diagnostic results will be obtained regardless of the origin of the population.”
The new pangenome is made up of 47 people, half of whom are of sub-Saharan African, one-third of the Americas, 13% Chinese, and 2% European ancestrywith representation of indigenous peoples.
But this is only the beginning of an ambitious program to better represent the diversity of the world’s population.
The initial goal is to increase the number to 350.
After that, the scientists leading the largely American program plan to further increase the numbers and diversity by working with organizations in other countries in what they hope will become phase two of the human genome project.
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