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Rutgers genetics expert reacts to 2022 Nobel Prize in physiology or medicine

Nobel Prize winner and geneticist Svante Pääbo’s work focuses on the sequencing of genomes for hominins, an extinct, human-related species.  – Photo by Duncan.Hull / Wikimedia

A University professor discussed her thoughts on the impact of the geneticist Svante Pääbo’s 2022 Nobel Prize on human evolution, which fell under the category of physiology or medicine.

Christina Bergey, an assistant professor in the Department of Genetics, said that Pääbo is most widely known for his work in sequencing genomes of hominins — an extinct species related to humans.

Bergey said Pääbo’s sequencing has shown that modern humans and some hominin species intermixed at some points.

For example, individuals with non-African genetic heritage hold genetics from Neandertals — a fact that has modern-day implications, especially in light of the coronavirus disease (COVID-19) pandemic.

“Everything from risk of psychiatric diseases to resistance to COVID-19 to even things like sense of direction are impacted by Neandertal genetic variants in the modern human gene pool,” Bergey said.

In addition to sequencing genomes for Neandertals, he also sequenced a pinky finger bone found in Siberia in 2008 and found that the bone originated from a group of unknown hominins, which were later categorized as Denisovans, she said.

Similar to the Neandertals, Denisovans also account for genetic variants in modern humans, specifically in Southeast Asian individuals, Bergey said.

In fact, research has found that Tibetan people hold Denisovan-origin genetic variants that helped their ancestors survive in low-oxygen environments.

Bergey said that these shared genetics demonstrate that evolution as a process is not straightforward or neat but rather full of unclear and nonlinear boundaries.

“Boundaries between species are fuzzy, and admixture or hybridization is common,” she said. “We're not much different from the baboons I study, at least in that respect.”

In terms of expanding upon Pääbo’s work, Bergey said that more studies revolving around ancient hominins will be helpful in advancing humanity’s knowledge of its evolutionary past.

Additionally, she said analyzing genetic samples from climates that are not conducive to preserving DNA and genetic samples from non-human animals would prove interesting.

Bergey, who studies infectious disease, said she is also interested in genetic sequencing as it relates to paleopathology, the study of ancient diseases.

“Infectious disease is one of the biggest forces that shaped human evolution, so understanding past diseases by directly sequencing them from ancient humans offers powerful insight into our past,” she said.

Speaking on what genetic scientists should consider for their work, Bergey said they need to be aware of the limitations and risks of advancing genetic technology.

“There's always the risk that technology can move too fast, faster than the norms and regulations that govern research, so scientists and related and descendant communities and bioethicists need to work together to ensure the power of ancient DNA analyses are wielded to benefit all stakeholders,” she said.

Bergey said she does not know what the next biggest genetic discovery will be but thinks awarding the Nobel Prize to Pääbo is a testament to the power of “basic science,” or science without direct practical application.

She said that while she does do more application-based research now, much of her past and academic experience relates to theoretical science that does not have immediately obvious consequences for day-to-day life.

“That research deserves funding in part because it often has a major practical benefit down the road, though it can be hard to see in the early stages,” she said.

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