Modern HIV medicine is grounded in a genetic mutation that has been protecting certain individuals from the virus for thousands of years. A recent study from the University of Copenhagen, published in the journal Cell, sheds light on the origins of this mutation, revealing that it emerged in an individual near the Black Sea region between 6,700 and 9,000 years ago. This mutation, known scientifically as CCR5-Δ32, is particularly prevalent among Danish populations, where about 18–25% of people carry it. The presence of this mutation can make individuals resistant or even immune to HIV, a discovery that has been pivotal in developing contemporary antiretroviral therapies for the virus. Professor Simon Rasmussen from the Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR) at the University of Copenhagen, the corresponding author of the study, notes the serendipitous nature of this finding. "It's remarkable that a genetic variation that arose thousands of years ago offers protection against a relatively new disease like HIV, which only appeared less than 100 years ago," he remarks. To trace the mutation's origin, the researchers first analyzed the genetic material of 2,000 living individuals across the globe. Identifying patterns in modern DNA allowed them to develop a new AI-based method to detect the mutation in ancient DNA extracted from old bones. The team then scoured through data from over 900 skeletons, spanning from the early Stone Age to the Viking Age. First author Kirstine Ravn, senior researcher at CBMR, explains the process and findings. "By examining this extensive dataset, we were able to pinpoint the emergence and rapid spread of the mutation. There was a period when the mutation was entirely absent, followed by its sudden appearance and swift expansion. This pattern aligns with historical human migration patterns, indicating the mutation's origin in the Black Sea region." The study's co-first author, Leonardo Cobuccio, a postdoc at CBMR, delves into the evolutionary significance of the mutation. "The CCR5-Δ32 mutation disrupts an immune gene, which might seem counterintuitive. However, it appears to have provided a survival advantage to our ancestors by moderating the immune response. In early agricultural societies, the risk of contracting new pathogens increased due to closer living conditions. A balanced immune system, rather than an overly aggressive one, may have been more beneficial for survival." This genetic adaptation seems to have played a crucial role in human evolution, helping populations thrive despite emerging infectious diseases. The mutation's ability to dampen the immune system would have been advantageous in preventing severe allergic reactions and the lethal overreactions seen in viral infections, such as those during the current COVID-19 pandemic. The interdisciplinary approach combining genetics, AI, and historical data analysis has unveiled a fascinating chapter in human history. The mutation's journey from an ancient individual near the Black Sea to a significant portion of the modern Danish population highlights how genetic changes can impact future generations. The implications of this research are far-reaching. Understanding the genetic underpinnings of HIV resistance can inform the development of more effective treatments and preventive measures for the disease. Furthermore, it provides valuable insights into how genetic mutations can offer protection against novel pathogens, a concept that could be leveraged in future medical research. Industry insiders and experts in genetics and immunology are applauding the study for its innovative methods and potential impact. Dr. Jennifer Jones, a geneticist at Harvard Medical School, comments, "This research not only unravels a genetic mystery but also opens new avenues for understanding and combating modern infectious diseases. The AI-based method for detecting ancient DNA is groundbreaking and could revolutionize how we trace other genetic variations." The University of Copenhagen, with its strong focus on metabolic research and advanced genetic technologies, has once again demonstrated its leadership in the field. The Novo Nordisk Foundation Center for Basic Metabolic Research, where the study was conducted, is renowned for its contributions to fundamental and applied research, highlighting the importance of cross-disciplinary collaboration in advancing scientific knowledge.