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Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases - EurekAlert

Researchers at the Pacific Northwest Research Institute (PNRI), in collaboration with other institutions, have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. Published in Cell Genomics and funded by the NIH, the study reveals that during DNA repair, segments may switch templates within inverted repeats, leading to structural variations and gene dosage alterations, impacting conditions like MECP2 duplication syndrome. This discovery, spearheaded by PNRI's Dr. Cláudia Carvalho, opens new avenues for understanding and treating rare genetic disorders.

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