Svante Pääbo: Nobel Prize in Physiology or Medicine. Sequencing Neanderthal Genome

Svante Pääbo, a Swedish human geneticist has been awarded the Nobel Prize in Physiology or Medicine for the year 2022 for his work on sequencing Neanderthal Genome. His work is based on 40000 year old extracted DNA from Neanderthal bones. There was a great risk of this DNA being contaminated with living human DNA. To overcome this issue, he carefully developed a technology by way of which, he ensured that the ancient DNA should not be contaminated with other DNA. Some of the ancient DNA was eaten by bacteria, therefore the real challenge before Paabo was to extract the remaining DNA fragments and sequence them. This Herculean task resulted in a huge number of such sequenced fragments. The last step was to fit these sequences in the proper order to come up with a complete sequenced genome of Neanderthals which Svante Pääbo completed with great accuracy.

The modern humans and Neanderthals were two distinct groups who inhabited Europe from 600,000 years ago to around 40000 years ago till the time the Neanderthals became extinct.  An earlier scientific opinion prevaled that these two groups didn’t have common children and that these groups didn’t mix with each other. Scientific research has now confirmed that the modern European and Asian populations contain one to four per cent of Neanderthal DNA suggesting that the two groups often inter-mixed with each other.

One find of ancient humans, the Denisovans, from a Siberian cave who endured harsh icold climate of snow, may have some common gene variants with high altitude Tibetans who adapt so well to high altitude. May be it is the initial curiosity of Paabo to understand and uncover our ancient past which has led to this work but it definitely has applications in human adaptations and in evaluating the risk of developing disease in modern humans.