Global Research Team Including Korea Publishes First Results in Nature

The human body is in a constant state of change, and somatic mutations—genetic alterations that accumulate throughout life—leave their marks on every single cell. Now, an international team of scientists has achieved a breakthrough in precisely tracing these mutations across the human body over a lifetime. The Somatic Mosaicism across Human Tissues (SMaHT) Network, formed to systematically analyze human mutations, has published its first major findings—a comprehensive “Somatic Mutation Atlas”—in the journal Nature on July 3. The project was funded by the U.S. National Institutes of Health (NIH) and included contributions from Korean researchers, including Professor Ji-Won Oh of Yonsei University College of Medicine.

Humans continuously accumulate mutations in their cells as they age. These somatic mutations are linked to various conditions such as cancer, aging, and neurological diseases. However, previous studies have largely focused on only a few organs, leaving a major gap in understanding how mutations occur and spread across the entire body.

To fill this gap, the researchers conducted “rapid autopsies” within 24 hours of death on 150 adults who had no known diseases. They collected samples from 19 different tissues, including the brain, heart, lungs, liver, skin, blood, and reproductive organs. This effort was made possible through collaboration with organ donation networks and tissue procurement organizations, including Yonsei University College of Medicine. By conducting high-precision analyses on the high-quality genomes obtained, the team was able to map—at an unprecedented resolution—the spatial and temporal characteristics of somatic mutations: when, where, and how they occur in the human body. The resulting map offers a powerful reference of naturally occurring somatic mutations in healthy individuals. This foundational data can serve as a critical benchmark for identifying the molecular causes of a wide range of diseases. “Using cutting-edge genome analysis technologies, we were able to detect even the smallest mutations,” said Professor Oh. “We also observed clonal expansion—where groups of cells with identical mutations proliferate—providing key insights into conditions such as cancer, aging, heart disease, and dementia.” The large-scale dataset created by this research will be made openly available to scientists worldwide. It is expected to play a vital role in uncovering the fundamental causes of mutations and in developing personalized treatment strategies.

(Chosun Ilbo, July 3, 2025)