Researchers at the Pacific Northwest Research Institute and collaborating institutions have made a groundbreaking discovery that could significantly advance our understanding of genomic disorders. Their latest study, funded by the National Institutes of Health, and published in Cell Genomics, reveals how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases.
Genomic disorders occur when there are changes or mutations in DNA that disrupt normal biological functions. These can lead to a range of health issues, including developmental delays and neurological problems. One type of complex DNA mutation involves a structure known as a duplication-triplication/inversion-duplication (DUP-TRP/INV-DUP). This study examines how these complex rearrangements form and their impact on human health.