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Seeing cell to cell differences for first time explains symptoms of rare genetic disorders

Every cell in the body has two genomes, one from the mother and one from the father. Until now, researchers have lacked the tools to examine — in a single cell –the exact readout from each genome to make RNA. Using a new technology that allows researchers to do just that, an interdisciplinary University of Pennsylvania team examined a rare disease in which these two genomes are expressed differently throughout the body, even sometimes in the same organ. They found that at the single-cell level gene expression was highly variable and quite different than expected, which is now shedding light on the molecular causes of rare diseases and perhaps the complex nature of tumors.

Mosaic Mouse
Epigenetic mosaicism occurs during mouse development in a mouse model of epigenetic disease.
Credit: Connie Jiang, M.D./Ph.D., student, Perelman School of Medicine, University of Pennsylvania.