On October 3, 2022, the Nobel Prize Committee announced that the Nobel Prize in Physiology and Medicine was awarded to geneticist Svante Pääbo for his work studying the genome of extinct hominins and expanding our knowledge of human evolution. By better understanding how these ancient genes have evolved in our ancestors, we gain insights into present-day physiological questions, such as how our immune system reacts to infections. Pääbo’s research has also given rise to a new scientific discipline, paleogenomics, and has allowed us to explore what makes us human.
Pääbo’s fascination with studying Neanderthal DNA began early in his career, and he began developing methods to study ancient DNA as a postdoctoral fellow. After several decades, Pääbo shifted focus to trying to extract and analyze mitochondrial DNA from Neanderthals. Using the methods he had developed over his career, Pääbo succeeded in sequencing a section of mitochondrial DNA from a 40,000-year-old bone—marking the first sequence from an extinct evolutionary relative. After accomplishing this first milestone, Pääbo and his team pushed onward, and in 2010, they had accomplished what many thought was impossible: the publication of the first Neanderthal nuclear genome sequence.
However, sequencing Neanderthal nuclear DNA wasn’t the only incredible discovery Pääbo and his team made during this time. In 2009, a 40,000-year-old bone fragment was shown to have DNA that was completely unique compared to all known Neanderthal sequences, indicating the existence of a previously unknown hominin. These discoveries have greatly enhanced our understanding of human evolution. This work has led to the establishment of the new discipline of paleogenomics.
Thanks to these discoveries, researchers can now examine archaic sequences to better understand how our extinct relatives influenced our present-day physiology, providing a clearer picture of the genes that affect our immune response or those that affect our survival advantages in different altitudes, for example.
While it isn’t common for the Nobel Prize in Physiology and Medicine to be granted to a single person, many of Pääbo’s contemporaries agree that his scientific contributions make him more than deserving. “Svante brought together teams of scientists who, thanks to his leadership, tenacity, and rigor, established a field that has since allowed unexpected insights into human evolution, paleontology, ecology, and so many other disciplines,” said evolutionary biologist Beth Shapiro in a recent Science article.