New Consortium Aims to Map DNA Mutations Throughout Human Life

A pioneering project led by a team of researchers from institutions including Yale University is set to explore the vast landscape of genetic mutations that accumulate in our bodies from conception to old age. These somatic mutations, which occur in non-reproductive cells, gradually build up over time, evading the body's DNA repair mechanisms and potentially impacting health outcomes. The initiative, named the Somatic Mosaicism across Human Tissues (SMaHT) Network, involves over 300 scientists dedicated to cataloging mutations across 19 tissue types in 150 healthy individuals.

This comprehensive effort builds on decades of prior research that first documented the human genome's three billion base pairs. It aims to better understand how mutations develop and persist across different tissues during a lifetime. The project is particularly interested in single nucleotide variants (SNVs)—the most common form of mutation—occurring during cell division and their increase in frequency with age. While most mutations are benign, some may have significant effects, contributing to developmental disorders, cancer, and neurological diseases.

One challenge in this research is detecting mutations present in very small cell populations or in single cells. To address this, the consortium is applying advanced sequencing technologies with ultra-low error rates, including methods that analyze the DNA of individual cells and monitor RNA to understand the functional consequences of these mutations.

Understanding the mutation landscape in healthy tissues is essential for identifying harmful changes that could lead to disease. This knowledge will also shed light on the natural aging process and the development of various health conditions. As Flora Vaccarino of Yale explains, "Until we understand what is happening in healthy people, we can't understand what is happening in disease."

Overall, this project represents a significant step toward a detailed map of human somatic mutations, promising insights into how our bodies change over time and how these changes may influence health and disease risk. source: https://medicalxpress.com/news/2025-07-trackers-consortium-dna-mutations-human.html