The development of effective therapies faces several significant challenges: (1) the extensive genetic heterogeneity of CMT, with over 1500 identified mutations, including the notable 1.4 Mb duplication in PMP22 associated with CMT1A, which leads to overlapping and variable disease phenotypes; (2) the rarity of individuals with specific genotypes, which limits both research interest and pharmaceutical investment; and (3) the inherent complexity of translating findings from preclinical studies in rodent and cellular models to successful human clinical trials [15]. The gene discussed is PMP22; the disease is Charcot-Marie-Tooth disease.