Invisible changes in our cells may shape health and disease

The genetic material inside a person's cells is not identical throughout the body. Because cells pick up changes throughout life, every one of us has a patchwork of cells with a slightly different genetic sequence, a phenomenon known as somatic mosaicism.

Scientists are now learning that this somatic mosaicism affects health in many other ways, depending on the cells or tissues in which it occurs. However, identifying somatic mosaicism in people, documenting its effects and developing therapies to counter the disease mechanisms involved have challenged researchers.

A group of papers published Oct. 15 in the journal Cell examines new approaches to detect and analyze somatic mosaicism in people. Dr. Andrew Stergachis, associate professor (Medical Genetics) led a team that contributed to the primary publication and authored two companion papers.