Publications by authors named "R Tipon"
Background: Viral infection outcomes vary widely between individuals, ranging from mild symptoms to severe organ failure and death, and it is clear that host genetic factors play a role in this variability. Type I interferon (IFN) is a critical anti-viral cytokine, and we have previously noted differences in type I IFN levels between world populations.
Methods: In this study, we investigate the interrelationship between regional European genetic ancestry, type I IFN levels and severe viral infection outcomes.
The hypothalamus is a region of the brain that plays an important role in regulating body functions and behaviors. There is a growing interest in human pluripotent stem cells (hPSCs) for modeling diseases that affect the hypothalamus. Here, we established an hPSC-derived hypothalamus organoid differentiation protocol to model the cellular diversity of this brain region.
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- Infantile neuroaxonal dystrophy (INAD) is a deadly genetic disorder affecting children, linked to recessive variants and resulting in neurodegeneration due to ceramide buildup and mitochondrial issues.
- Research shows that INAD-affected neurons display altered retromer function, disrupted ceramide metabolism, and compromised endolysosomal pathways, which are also observed in related mouse models.
- A study of 20 drugs identified Ambroxol, Desipramine, Azoramide, and Genistein as effective in reducing neurodegenerative symptoms, and a new gene therapy approach shows promise in slowing degeneration and extending lifespan in INAD mice.
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- Three-dimensional pseudoislets (PIs) model human islet-like structures for studying insulin-producing β-cells, enhancing insulin production and glucose response.
- Researchers demonstrated that islet-derived endothelial cells (iECs) can spontaneously induce the formation of fully humanized PIs using a human β-cell line, resulting in structures similar to primary human islets within 14 days.
- The iEC-induced PIs showed improved insulin secretion and glucose sensing, with increased expression of key genes related to glucose transport and β-cell functionality, offering a robust tool for studying β-cell biology.
Multiple sclerosis (MS) is a neurodegenerative disease of the central nervous system (CNS). Minimally invasive biomarkers of MS are required for disease diagnosis and treatment. Differentially methylated circulating-free DNA (cfDNA) is a useful biomarker for disease diagnosis and prognosis, and may offer to be a viable approach for understanding MS.
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