VU Experts Help to Understand: What Makes the Nobel Prize-Winning Geneticist Svante Pääbo’s Scientific Discoveries Significant?
The Nobel prize season of 2022 kick-started this Monday. The first of the prizes in medicine went to the 67-year-old Swedish geneticist Svante Pääbo. Prof. Pääbo received the Nobel prize for his discoveries concerning the genomes of extinct hominins and human evolution. According to Vilnius University (UV) Faculty of Medicine scientist Dr. Alina Urnikytė, the discoveries of Prof. Pääbo, who is one of the most renowned scholars in the field, are significant as a foundation for further genetic research into what makes us human.
‘Prof. Pääbo has created an entirely new scientific disciple, paleogenomics. On top of that, he has sensationally identified a group of extinct hominins known as the Denisovans, as well as being the first to decipher the genetic sequences of the Neanderthals,’ says Dr. Urnikytė.
A new discipline and the previously unknown Denisovans
According to Dr. Urnikytė, the new disciple established by Prof. Pääbo, paleogenomics, is an interdisciplinary field of scientific research, representing an intersection between anthropology and molecular biology, as it studies ancient fossils, which are mostly the remains of hominins, and their DNAs, deciphered using latest technologies. The so-called ancient DNAs are then analyzed and compared with today's human genomes to help explain the history of human evolution.
‘Prof. Pääbo’s recently discovered hominin, Denisova, was a completely new turn in the field of evolutionary human sciences. Prof. Pääbo managed to sequence a DNA from a tiny fragment of a fingerbone found in a cave in Siberia and identify a new hominin in the human kind,’ says Dr. Urnikytė.
The first to sequence Neanderthal DNA
Dr. Urnikytė explains that the Nobel prize winner in medicine, who also has Estonian roots, mostly focused on Neanderthal research and this is what he is best known for.
‘Prof. Pääbo published his first scientific article on the Neanderthals back in 1997. Moreover, he was the first do decipher and sequence the nuclear DNA of the Neanderthals, which we have been using in our analyses to this day,’ she says.
Discoveries with potential applications in medicine
‘The significance of these discoveries is enormous. They provide a deeper insight into our own evolutionary origins and shed further light on the early history of the human race. Although we tended to think of ourselves as direct descendants of one common ancestor, we now see that the Neanderthals are not our direct ancestors. Prof. Pääbo also showed that the Neanderthals interbred with humans: His comparative analysis demonstrates that 1–4% of the genome of modern humans can be traced to the DNA of the Neanderthals,’ says Dr. Urnikytė.
According to her, the spearheading research of Prof. Pääbo can lay the foundation for new scientific hypotheses in the future, facilitate the development of new medicines, and promote the concept of personalized medicine. Returning to the issue of infectious diseases, this new knowledge allows us to model future situations and change, as well as assessing our immunity to infectious diseases and the means of protection against them.
From the medical point of view, it has been demonstrated that the genomic segment inherited from Neanderthal DNA contains genetic variants associated with immune response to certain infectious diseases. According to an article from 2020, this segment is associated with the severity of symptoms after SARS-CoV-2 infection.