Dystroglycanopathies are a subset of rare congenital muscular dystrophies (CMDs) caused by dysregulation in the assemblage of glycans on the α-dystroglycan (α-DG) transmembrane glycoprotein.
Disrupted meiosis, the cell division process that leads to the production of reproductive cells in sexually reproducing organisms, led to a decline in overall health by triggering an accelerating aging signature in the roundworm Caenorhabditis elegans.
The work is “the first direct evidence that manipulating the health of reproductive cells leads to premature aging and a decline in healthspan,” senior author Arjumand Ghazi, an associate professor of pediatrics, developmental biology, and cell biology and physiology at the University of Pittsburgh and the University of Pittsburgh Medical Center (UPMC) Children’s Hospital, said in a press release.
Researchers from Astellas Pharma Inc. presented preclinical data for the novel 5-HT5A receptor antagonist, ASP-5736, being developed for the treatment of fragile X syndrome (FXS).
Bioage Labs Inc. has synthesized new NLRP3 inflammasome inhibitors reported to be useful for the treatment of cryopyrin-associated periodic syndromes, hearing loss, Ménière's disease, tinnitus, vertigo and inflammatory disorders.
Researchers from Meiragtx Ltd. presented preclinical data on a new and optimized gene therapy based on a mini ATP7B gene for the potential treatment of Wilson’s disease (WD), a rare (1:30,000) autosomal recessive genetic disease caused by loss-of-function mutations in ATP7B, leading to a pathologically high amount of copper in the liver and brain.
Scientists from the Global Biobank Meta-Analysis Initiative (GBMI) , founded in 2019, have published initial results in the Oct. 12, 2022 issue of Cell Genomics. In a series of papers, the investigators showed that the data collected by multiple biobanks could be harmonized and jointly analyzed, despite initial differences in recruitment strategies, sample collection, and definitions of diseases. Joint analysis identified new risk loci for more than a dozen common diseases, while another paper showed that such joint analysis could also be used to identify such loci for the rare disease idiopathic pulmonary fibrosis (IPF).
Idorsia Pharmaceuticals Ltd. has described cystic fibrosis transmembrane conductance regulator (CFTR) modulators reported to be useful for the treatment of cystic fibrosis.
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