Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. 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 opens new avenues for understanding and treating rare genetic disorders.
Read more …Hidden DNA mechanisms of rare genetic diseases uncovered
Researchers have created a deep learning pipeline for designing soluble analogues of key protein structures used in pharmaceutical development, sidestepping the prohibitive cost of extracting these proteins from cell membranes.
Read more …Membrane protein analogues could accelerate drug discovery
Biomedical engineers have grown muscles in a lab to better understand and test treatments for a group of extremely rare muscle disorders called dysferlinopathy or limb girdle muscular dystrophies 2B (LGMD2B). The research revealed the biological mechanisms underlying the disease and showed that a combination of existing treatments could alleviate its symptoms.
Read more …Lab-grown muscles reveal mysteries of rare muscle diseases