Topic: Repeat Expansions and Genome Instability: Mechanisms and Consequences.

Repeat expansions are a major source of genome instability and are associated with a wide range of inherited disorders, including neurodegenerative and neuromuscular diseases. Their formation and progression involve complex mechanisms related to DNA replication, repair, transcription, and chromatin regulation. Advances in long-read sequencing and genomic technologies have improved the detection and characterization of repetitive DNA, offering new insights into the molecular mechanisms and disease consequences of repeat instability.

This Special Issue, “Repeat Expansions and Genome Instability: Mechanisms and Consequences,” aims to explore the mechanisms underlying repeat expansion, its genetic and cellular consequences, and its roles in disease development and progression. We welcome original research, reviews, and methodological studies that advance understanding of repeat instability and support the development of improved diagnostic and therapeutic strategies.