Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is characterized by progressive muscle atrophy (degeneration), including skeletal muscles in charge of the ability to move. SMA is caused by defects in the SMN1 gene (Survival of Motor Neuron 1) which encodes a protein crucial for the survival and functionality of neuron cells called motor neurons. Decreased level of functioning SMN protein leads to progressive degeneration of alpha-motor neurons performing muscular motility. Over the past decade, many strategies directed for SMN-level-restoration emerged, such as gene replacement therapy (GRT), CRISPR/Cas9-based gene editing, usage of antisense oligonucleotides and small-molecule modulators, and all have been showing their perspectives in SMA therapy. In this review, modern SMA therapy strategies are described, making it a valuable resource for researchers, clinicians and everyone interested in the progress of therapy of this serious disorder.

Genodermatoses are rare hereditary skin disorders, most of which still lack effective curative treatment, and progress toward modern therapy depends on experimental models that capture both the genetic defect and its tissue context. This review examines the main modeling platforms (patient-derived induced pluripotent stem cells (iPSC), 3D organotypic skin equivalents, and animal models), with emphasis on ichthyoses and epidermolysis bullosa, and considers their role in the development of gene therapy and genome editing, as well as patent activity in the field. The platforms are not hierarchical; they differ in how they balance genetic fidelity against physiological context and are best viewed as complementary. Common limitations include reliance on qualitative readouts and the lack of developmental and chronic dimensions, which restricts how well the models reproduce lifelong diseases with graded severity. Translational barriers include the high cost and limited scalability of clinical-grade iPSC products, reliance on individually prepared patient material, small patient cohorts, and the absence of qualified genodermatosis-specific endpoints. Emerging technologies, such as skin-on-chip systems, spatial omics, and base/prime editing, could help address some of these gaps. This review outlines how common quantitative criteria, shared reference material, and agreed qualification pathways could make existing models comparable and link them to therapeutic development.