Sequencing of ancient human DNA takes 2022 Nobel Prize in Physiology or Medicine

Swedish geneticist Svante Pääbo has won the 2022 Nobel Prize in Physiology or Medicine for his work uncovering the genomes of our ancient human ancestors and other early hominins.

Pääbo, who is director of the Max Planck Institute for Evolutionary Anthropology (MPI-EVA), is one of the founders of the field of paleogenomics. While many in the field hoped that he might one day be awarded a Nobel Prize, Jennifer Raff of the University of Kansas says that “many of us were skeptical” that it would happen. “I’m just thrilled.”

Pääbo helped build new techniques needed to isolate and study genetic information in bones from thousands of years ago. Over time, DNA changes chemically and degrades. But by developing stringent clean room techniques and silica-based purification methods, Pääbo began to have success analyzing ancient DNA. He then turned his attention to the Neanderthal genome, first cracking the code in 2010 (Science, DOI: 10.1126/science.1188021). Next came a new hominin, the Denisovan (Nature 2010, DOI: 10.1038/nature09710), and soon, researchers were not only sequencing ancient genomes but stitching together a family tree that could track our evolutionary history as humans.

“The ability to sequence ancient DNA has transformed the study of human evolution and prehistory and continues to do so,” says Aylwyn Scally, who researches human evolutionary genetics at the University of Cambridge, in an email to C&EN. “There were other pioneers of ancient DNA sequencing, but Svante's drive and vision were key, particularly in leading the sequencing of the Neanderthal genome,” he says. “When that was published, it was as if we were in a different field overnight; all kinds of questions which people had speculated on for decades, and assumed we would never answer, suddenly became feasible to address. It's great to see this recognition for Svante's achievement and indeed for paleogenetics as a field.”

Ben Krause-Kyora, who does ancient DNA analysis at the University of Kiel, agrees, adding that the evolutionary approach that Pääbo has pioneered is important not just for understanding our past but also has medical implications for today. The impacts of past diseases and environments have left their marks on different genetic populations, he says. “We have history in our DNA.”

Raff says Pääbo’s work also has social importance, showing that human evolution has been dynamic and complex throughout history. Despite all of the variation in human genetics, she says, Pääbo has shown that we are more similar than we are different and that populations have always mixed and intermingled.

Viviane Slon earned her PhD working in Pääbo’s lab and now leads her own group at Tel Aviv University. She says she was “ecstatic” when she heard the news. Slon says that techniques developed by Pääbo and others at MPI-EVA can also be used in many other related fields. Slon, for example, analyzes DNA from ancient human remains as well as from sediments at archaeological sites, which helps give environmental context, she explains.

Raff makes clear that the prize is well deserved and an exciting moment for anyone working on ancient DNA. Krause-Kyora agrees: “It’s an honor for the whole field.”

Pääbo took the call from Thomas Perlmann, secretary of the Nobel Committee for Physiology or Medicine, earlier this morning. Unlike calls to scientists in more Western time zones, Perlmann joked, it was easy to reach Pääbo, who was awake, out of bed, and having a cup of tea when the call came. In fact, Pääbo told Adam Smith, chief scientific officer of Nobel Prize Outreach, that when he saw that the call was coming from Sweden, he thought there might be a problem with the small summer hut that the family keeps there. “I thought the lawnmower has broken down or something,” he said during the call.

At a press conference later in the day, Pääbo told journalists that when he picked up the call, he first thought it was an elaborate prank. He said that although he still hasn’t quite digested the news, he hopes the prize won’t cause too much disruption to his work.

Pääbo will receive the Nobel medal, prize certificate, and 10 million Swedish kronor (approximately $900,000) at an award ceremony in Sweden later this year.