The Nobel Prize was awarded to the scientist who sequenced the Neanderthal genome

Svante Pääbo, a Swedish scientist who looked back at human history by taking genetic material from 40,000-year-old bones, created the complete Neanderthal genome and kicked off the field of ancient DNA research , was awarded the Nobel Prize in Physiology or Medicine on Monday.

The award recognized a scientific career that could not have been more amazing. Once dreaming of becoming an Egyptologist, Dr Pääbo spent his early years researching to extract genetic material from mummies, only to have that research run aground because the specimens may have been contaminated by DNA of himself and his colleagues.

Within about two decades, in 2006, he made an unlikely attempt to decode the Neanderthal genome. He designed a so-called cleanroom dedicated to ancient DNA processing, which protected his fossils from living human genetic material. And great advances in sequencing technology have allowed him to decode the highly damaged DNA found in ancient bones.

Dr Nils-Göran Larsson, chair of the Nobel Committee for Physiology and Medicine and professor of medical biochemistry at the Karolinska Institutet in Stockholm, said: “It is certainly considered impossible to recover DNA from 40,000 bones. five years old. .

In 2010, Dr. Pääbo published the Neanderthal genome. The publication opened a window to questions about what made early humans different from modern humans. It also helps scientists track genetic differences in modern humans and understand the role those differences play in disease, Including Covid-19. In 2020, Dr Pääbo and a colleague found that coronavirus causes more severe symptoms in people who inherit a fragment of Neanderthal DNA.

Even some of Dr. Pääbo’s greatest admirers described the award as unexpected. Analysts have long speculated that scientists who sequenced the modern human genome were strong candidates for the Nobel Prize, but did not think the scientist who sequenced Neanderthal DNA would win. get that award first.

But geneticists argue that the two projects are intertwined: The rapid advances in sequencing technology that followed the beginning of the Human Genome Project in 1990, they say, have helped Progress Doctor Pääbo explains a small amount of Neanderthal DNA, damaged by tens of thousands over many years underground.

Dr Eric Green, director of the National Human Genome Research Institute at the US National Institutes of Health, said: “There were many fingerprints of the Human Genome Project throughout the course of the study. Dr. Green said Dr. Pääbo’s powers were still in place to take clean samples, screen for DNA left by bacteria living in bones and analyze fragments of Neanderthal DNA.

“He ended up with tons of code from Neanderthal bones,” said Dr. Green. “Then it was, ‘How do you put that jigsaw puzzle together?'”

When Dr. Pääbo removed the bacterial DNA, treated the damage to Neanderthal genes, analyzed the sequence, and finally put together the genetic jigsaw puzzle, the picture appeared astonishing.

There is archaeological evidence that before the Neanderthals disappeared about 30,000 years ago, they lived in Europe and Asia alongside the ancestors of modern humans, who migrated there from Africa. But the popular belief is that modern humans are so special that they didn’t have children with Neanderthals. (Modern humans and Neanderthals share a common ancestor that lived 600,000 years ago.)

David Reich, a geneticist specializing in ancient DNA at Harvard Medical School, who worked with Dr. Pääbo to sequence the genomes.

“We are alone in this world – we don’t have these ancient humans living with us,” Dr. Reich said. “Only 50 to 60,000 years ago, we mixed with them whenever we could.”

That mix left a strong genetic imprint. The team found that people currently living in Europe and Asia derived between 1% and 4% of their genomes from Neanderthals. There are no records of Neanderthals in Africa, which means they did not directly contribute to the human genome there, but scientists believe that perhaps other early humans did.

Dr. Pääbo continues to use techniques he developed to sequence the Neanderthal genome to study other evolutionary relatives.

In 2008, Dr. Pääbo’s team took DNA from finger bones found in a Siberian cave and learned that it belonged to an unexplored population of ancient humans, later named Denisovan. Dr. Pääbo finds that genome has also made its mark in some modern humans: The gene variants that help modern Tibetans live at high altitudes, Dr. Pääbo found, may have originated in Denisovans.

The results from those studies not only create a new map of human migration, but also provide evidence of significant mixing between groups in distant human history, Dr. Reich said.

“It has profoundly changed the way many people understand human history,” he said. “Racist myths about purity do not align with the data, which demonstrates how central mixing and migration has been to our past.”

The question of what makes modern humans unique, among the most fundamental problems raised by Dr. Pääbo’s research, remains difficult to untangle. His research identified genetic variants that were common in living humans but absent in Neanderthals, providing a kind of blueprint for the set of mutations they could distinguish from modern humans.

But scientists have yet to link those mutations to traits of modern humans, such as figurative artistic prowess, complex cultures, extensive social cooperation and innovation. advanced.

That hasn’t slowed the explosion of ancient DNA research in recent years. Some scientists attribute this in part to the large network of geneticists that Dr. Pääbo has trained and invited to collaborate over the years.

Dr Hugo Zeberg, a geneticist at the Karolinska Institute who studies the link between genetic variation and disease, said: “When we have a meeting, he can inspire the whole team. continued to work in the laboratory until late at night. “This is a great colleague.”

Among the studies that have evolved from Dr. Pääbo’s work are his and Dr. Zeberg’s findings in 2020 that people with DNA fragments passed down from Neanderthals 60,000 years ago have a higher risk of severe illness from the coronavirus.

Knowing that people with Neanderthal ancestry have a higher risk of the disease could help distinguish populations that are more at risk, says Dr. Zeberg. In the case of genes associated with severe Covid, almost a third of people in South Asia are known to have inherited that fragment of the Neanderthal gene.

Dr. Pääbo’s other colleagues are now trying to fill in the gaps in human genetic history by sequencing the genomes of people who have lived for the past 10,000 years. Dr Reich says he and other scientists are also trying to study more samples from Africa and the Americas, where climates are often less friendly to conserving genetic material.

For his part, Dr Pääbo said in a press conference on Monday that despite the uproar surrounding the award, he hopes that “we can continue to work calmly and undisturbed”. by too many journalists”.

He has a bit of a Nobel Prize history in his own family: In a 2014 memoir, “The Neanderthal Man“, he wrote that he was “the secret extra-marital son of Sune Bergstrom, a famous biochemist who shared the 1982 Nobel Prize.” But he said it was hardly Prepare him to win the prize himself.

Dr Pääbo says his focus remains on the genetic changes that explain why modern humans became so populous and formed such large societies.

“What really drives our work is really curiosity,” he says. “It’s like you’re doing an archeological investigation to find the past. We arranged to do excavations in the human genome. “

Report contributed by Cora Engelbrecht and Isabella Kwai.

Who won the 2021 Nobel Prize in Physiology or Medicine?

The award was given to David Julius and Ardem Patapoutian for their discoveries of key mechanisms for how humans perceive heat, cold, touch, and body movement.

When will the other Nobel Prizes be announced?

The Nobel Prize in Physiology or Medicine is the first of many awarded given next week.

• The Nobel Prize in Physics will be awarded on Tuesday by the Royal Swedish Academy of Sciences in Stockholm. Last year, Syukuro Manabe, Klaus Hasselmann and Giorgio Parisi won for their work detailing the role of humans in climate change.

• The Nobel Prize in Chemistry will be awarded on Wednesday by the Swedish Academy in Stockholm. Last year, Benjamin List and David WC MacMillan won for the development of a new tool that accelerates research into new drugs and reduces the impact of chemicals on the environment.

• The Nobel Prize in Literature will be awarded on Thursday by the Swedish Academy in Stockholm. Last year, Abdulrazak Gurnah won for “his uncompromising and compassionate penetration of the effects of colonialism and the fate of refugees in the chasm between cultures and continents”.

• The Nobel Peace Prize will be awarded on Friday by the Norwegian Nobel Institute in Oslo. Last year, Maria Ressa and Dmitri A. Muratovboth journalists, won for their efforts in the fight to protect press freedom.

• Next week, the Nobel Memorial Prize in Economic Sciences will be presented on October 10 by the Swedish Academy in Stockholm. Last year, the award went to David Card, Joshua D. Angrist and Guido W. Imbens.

All award announcements will also live streaming of the Nobel Prize organization. The winners will receive their awards at a ceremony in Stockholm in December.