Svante Pääbo receives 2022 award in physiology or medicine for genome discoveries including Neanderthals

By Linda Geddes

A Swedish geneticist has been awarded the 2022 Nobel prize in physiology or medicine.

Svante Pääbo won the 10m Swedish kronor (£802,000) prize announced on Monday by the Royal Swedish Academy of Sciences in Stockholm.

Pääbo won for his discoveries concerning the genomes of extinct hominins including Neanderthals and human evolution, according to the formal citation from the Nobel committee.

His discoveries also have implications for modern medicine. Chunks of Neanderthal and Denisovan DNA are peppered throughout the human genome and their analysis is beginning to shed light on what makes our physiology unique, or similar, to that of our ancestors.

For instance, a Denisovan version of the gene EPAS1 has been found to help people survive at high altitudes and is common among modern-day Tibetans. Neanderthal genes have also been identified that affect our immune responses to different types of infections, including the risk of severe Covid-19.

Humans have long been intrigued by our origins and how we relate to the extinct human species that came before us. Through sequencing the Neanderthal genome and developing techniques that allowed DNA from other ancient specimens to be recovered and analysed, Pääbo’s discoveries have paved the way for a better understanding of what makes us uniquely human.

Although the first Neanderthal skeleton was discovered in Germany in 1856, before the invention of DNA sequencing, studies of human evolution were limited to comparisons of the size and shape of such bones, and examining tools and other archeological artefacts related to them.

Pääbo is a director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. From an early age he was fascinated by ancient human history and Egyptology.

After graduating from medical school, Pääbo worked on a secret side-project aiming to isolate DNA from mummy specimens. Although he partly succeeded, he quickly realised that doing so was fraught with technical challenges because ancient DNA is heavily degraded and contaminated with DNA from bacteria and modern humans.

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