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Summary: In anticipation of our upcoming Special Issue, ‘Translating Multiscale Research in Rare Disease’, we celebrate the strides taken in rare disease research that are improving patient diagnosis, prognosis and treatment.


Summary: We believe that increasing opportunities for scientists in low- and middle-income countries will translate to more impactful research done in these countries that inherently includes more samples from diverse populations.


Summary: Unconstrained tissue repair can lead to cancer. We explore how NOTCH signalling promotes ductular regeneration while asking whether it can be inhibited to limit tumour growth.


Summary: This study identifies molecular pathways through which the glucocorticoid receptor (GR) mediates stress responses in the zebrafish brain, providing further support for GR-mutant zebrafish as an affective disorder model.

Summary: A variant of unknown clinical significance of a human cardiogenic gene was modeled in Drosophila. In vitro assays showed defects in protein function, and mutation in vivo revealed defects in heart structure.

Summary: AGAP1 deletion variants were identified in three individuals with neurodevelopmental disorders, and, using a loss-of-function Drosophila model, we show that AGAP1 disruption impairs neuronal endolysosomal trafficking and chronically activates the stress response.

Summary: Diphthamide deficiency syndrome is caused by mutations in DPH genes. Analyses in human cell and yeast models identified functionally compromised missense alleles of human DPH1 and DPH2.

Summary: This study highlights the effects of OPA1 deficiency on oxidative metabolism in replicative cells and the use of a mathematical model in a translational process in a neurodegenerative context.

Summary: Cells involved in corneal stroma repair originate from corneal keratocytes. Corneal fibroblasts, originating from keratocytes, can regress to a keratocyte phenotype if relocated to a normal matrix.

Editor's choice: The dual lipid desaturase/hydroxylase DEGS2 contributes to mouse intestinal homeostasis and ameliorates colitis by converting dihydroceramides to phytoceramides. Without this enzyme, intestinal epithelial cells have diminished regenerative capacity.

Summary: Down syndrome is caused by an extra copy of human chromosome 21 (HSA21). This study reveals that the interaction between two HSA21 genes is important for axon development.

Summary: IL-33 is upregulated in Müller cells of murine retina during experimental diabetes, and deletion of IL-33 promotes gliosis, inflammation and neurodegeneration during streptozotocin-induced diabetic retinopathy.

Summary: A zebrafish model of Tango2 deficiency provides insights into key disease processes and the impacts of specific defects on predisposition to environmental triggers in rhabdomyolysis in TANGO2-related disorders.

Summary: Peripheral blood of YACQ84 mice, a model of spinocerebellar ataxia type 3, exhibits increased neuronal-specific NfL, directly associated with disease progression, providing a biomarker to interrogate in preclinical therapeutic studies.

Summary: Tubule cell KDM6A expression is increased from a sex-determined baseline in obstructive uropathy. However, knockout of KDM6A in male mice causes only subtle changes, characterized by augmented inflammation.


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