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http://dx.doi.org/10.1093/ejcts/ezae356 | DOI Listing |
Elife
January 2025
Institute of Clinical Sciences, Imperial College London, London, United Kingdom.
There are thousands of Mendelian diseases with more being discovered weekly and the majority have no approved treatments. To address this need, we require scalable approaches that are relatively inexpensive compared to traditional drug development. In the absence of a validated drug target, phenotypic screening in model organisms provides a route for identifying candidate treatments.
View Article and Find Full Text PDFTrans R Soc Trop Med Hyg
January 2025
Molecular Ecology and Evolution at Bangor (MEEB), School of Environmental and Natural Sciences, Bangor University, Environment Centre Wales, Bangor LL57 2UW, UK.
Background: Snakebite envenoming, classified as a neglected tropical disease, poses a significant threat to life in India, where it is estimated to cause 58 000 fatalities as well as 140 000 morbidities annually. To reduce the occurrence of snakebite, we need a comprehensive understanding of human-snake conflict ecology. Snake rescue networks represent a vital resource for gathering such ecological data.
View Article and Find Full Text PDFNature
January 2025
Allen Institute for Brain Science, Seattle, WA, USA.
Diseases
December 2024
Department of Neurology, "Victor Babes" University of Medicine and Pharmacy Timisoara, 300041 Timisoara, Romania.
Noncardiogenic pulmonary edema after cardiac surgery is a rare but severe complication. The etiology remains poorly understood; however, the issue may arise from multiple sources. Possible causes include a significant inflammatory response or an autoimmune process.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Biochemistry and Chemistry and La Trobe Institute for Molecular Science, La Trobe University, Bundoora, Victoria, Australia.
Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted diets show poor efficacy, whereas the development of new treatments is hindered by the low prevalence of the disorder and a lack of model systems for treatment testing.
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