D1.3 Mutation and gene editing

Mutations as permanent changes in DNA sequence: substitutions vs indels (frameshift if not 3n); spontaneous, physical, and chemical sources (UV / X-ray / benzopyrene); their consequences — silent, missense, nonsense substitutions, with sickle-cell and β-thalassaemia as worked examples; germline vs somatic and the link to evolution and cancer; HL extension to deliberate gene editing with CRISPR-Cas9 (mechanism, Casgevy for sickle-cell, ethics of germline vs somatic editing).