Researchers from the University of Utah Health, University of Washington, and PacBio have utilized advanced sequencing technologies to map rapidly mutating regions of human DNA, revealing that our genetic material may evolve much faster than previously understood.

Unlike previous studies that focused on less mutable parts of the genome, this research has uncovered highly mutable regions that change almost every generation.

By employing multiple sequencing technologies, the team achieved high-resolution images of genetic variation, enabling a comprehensive analysis of both small and large DNA changes.

The findings indicate that each human is estimated to have nearly 200 new genetic changes that differ from their parents, many of which occur in these hard-to-study regions of DNA.

Published in the journal Nature on April 23, 2025, the study emphasizes the importance of understanding how human DNA changes across generations for estimating genetic disease risks and tracing our evolutionary history.

These findings can significantly aid genetic counseling by clarifying whether diseases in children are likely inherited from parents or are due to new mutations, which impacts future disease risk for siblings.

To support ongoing research, the sequencing data from this study will be made publicly available, facilitating further exploration into human evolution and genetic diseases.

The research leveraged a unique multi-generational Utah family that has contributed DNA samples since the 1980s, providing a valuable resource for studying genetic variation over time.

Looking ahead, future research aims to apply these sequencing techniques to more families to determine if mutation rates vary, which could enhance predictions for disease risk and genome evolution.

Lynn Jorde, PhD, highlights that mutation rates are as fundamental to human biology as the speed of light is to physics, underscoring how these mutations differentiate humans from other species.