Nobel Prize awarded to geneticist for sequencing the Neanderthal genome

Swedish geneticist Professor Svante Pääbo has been awarded the 2022 Nobel Prize in Physiology or Medicine for his work that resulted in the sequencing of the entire ancient Neanderthal genome for the first time.

Professor Pääbo achieved what was considered impossible. As DNA degrades over time, sequencing ancient genomes had proven difficult. However, using Neanderthal bone specimens, Professor Pääbo and his team successfully sequenced the Neanderthal genome in 2009 with samples of DNA found in mitochondria and nuclei, publishing their research in Science.

On receiving the news he was to be awarded the Nobel Prize, Professor Pääbo, director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, since 1997, told the BBC 'I was very surprised and overwhelmed, I had not expected this.'

Professor Pääbo's research gave rise to the discipline of paleogenomics, the study of understanding how our genes differentiate us from extinct hominins, such as that of the Neanderthals. Professor Dame Linda Partridge, biological secretary and vice president of the Royal Society, London, said, '[Professor] Pääbo's pioneering research has contributed to our understanding of what makes us uniquely human'.

Professor Pääbo described his accomplishment in an interview with Nature, stating that his team 'knew the variation among present-day human mitochondria. So [they] immediately realised that [the genome] was very human-like – but not like any human living today'.

Professor Pääbo and his team also discovered that up to two percent of European and Asian genomes are derived from the Neanderthals, including genes that affect our responses to infections such as COVID-19 (see BioNews 1055, 1066 and 1084) resulting in furthering scientists' understanding of our own immune systems.

By comparing the Neanderthal genome to our modern human genome, Professor Pääbo uncovered a previously unknown hominin, the Denisovians. This led to the understanding that Homo sapiens bred with Denisovans, supporting the discovery that modern-day Tibetans have inherited the EPAS1 Denisovan gene, allowing them to survive the low oxygen conditions of high-altitude environments.

Professor Gunilla Karlsson Hedestam, a member of the Nobel committee, announced that 'there are a lot of implications [to Professor Pääbo's research], both in terms of understanding our evolution, potential medical implications and a basic understanding of our physiology'.