Issues

Summary: Rare disease research has benefited from the generation of accurate genetic models. Here, the breadth of capabilities in rare disease modeling with C. elegans is emphasized through discussion of individual research stories.

Summary: Distinct metabolic states regulate the identity of neural cells during development and adulthood. Metabolic alterations due to changes in nutrient availability and aging destabilize cell identity and contribute to neurological diseases.

Summary: Microglia abnormalities are increasingly linked to white matter diseases. Complementing analyses of leukodystrophy patient material with animal models yields insight into the impact and therapeutic potential of microglia across diverse brain disorders.

Summary: Different versions of syngeneic mouse models of induced endometriosis exhibit disparities in chronicity and cellular composition of lesions, as well as endometriosis-associated hyperalgesia.

Summary: A newly established Drosophila model recapitulates key features of human heart pathology linked to mutations in ELAC2, thus providing experimental evidence of the pathogenicity of ELAC2 variants.

Summary: TFAM depletion in skin fibroblasts ex vivo results in a senescent and inflammatory phenotype, providing a valuable model to investigate the role of mitochondrial dysfunction in ageing and inflammatory pathologies.

Summary: Candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy (FSHD) were identified using FSHD-like mouse models that present cumulative pathology from chronic expression of DUX4 in skeletal muscles and confirmed in FSHD patient serum.

Summary: The APOL1 transgenic mouse model develops interferon-induced variant-dependent kidney disease that recapitulates human recessive gain of function phenotype.

Summary: We present tools and procedures to generate a swine model for spinal cord injury, aiming for a correlation between injury severity, functional outcome and tissue damage.

Summary: We describe and establish an adult zebrafish electrocardiography acquisition and analysis strategy and evaluate its utility for examining zebrafish models of human cardiac electrophysiological phenotypes.

Editor's choice: We present how to fabricate the MEMIC, an experimental model of the tumor microenvironment, describing proof-of-principle experiments and providing image analysis tools that are helpful when using this system.