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Khabre desk
Recent reporting, analysis and explainers from the Biomedical Research desk.
science
A bioRxiv preprint reports that neonatal AAV-SIL1 gene therapy prevented neurological and muscle disease in a mouse model of Marinesco-Sjögren syndrome. The treatment preserved cerebellar Purkinje cells and maintained its effects through 26 weeks.
science
A bioRxiv preprint functionally profiled 80 human PRDM9 alleles and found that most produce similar genome-wide DNA-binding patterns despite extensive sequence diversity. Rare and infertility-associated variants showed unusually broad or minimal DNA binding, pointing to a possible role in disrupted meiotic recombination.