Focal segmental glomerulosclerosis (FSGS) is a kidney disease that leads to renal failure, and it affects individuals from different ancestries, the highest prevalence being among African and African American populations. DNA samples from 726 patients with FSGS were obtained and DNA sequencing was performed in the search of mutations tied to FSGS compared to a large pool of control populations.
The three-dimensional analysis of cell types and their locations by spatial transcriptomics provides key information of their interactions within tissues or organs. Based on this technology, scientists at the Wellcome Sanger Institute have developed an AI tool called Nichecompass, which shows a comprehensive view of the cancer microenvironments, the different cells, their locations, and how they communicate with each other through different molecules inside the tumor. This AI could process data in an hour and compare samples before and after a treatment.
Additional early-stage research and drug discovery news in brief, from: Maia Biotechnology, Precision Biosciences, Poxel, Telomir Pharmaceuticals, Traws Pharma.
Hangzhou Bio Sincerity Pharmaceutical Technology Co. Ltd. has identified new benzazepinone derivatives acting as receptor-interacting serine/threonine-protein kinase 1 (RIPK1; RIP-1) inhibitors reported to be useful for the treatment of cancer.
Work at Artivila (Shenzhen) Innovation Center Ltd. has led to the discovery of new leucine-rich repeat kinase 2 (LRRK2; Dardarin) inhibitors reported to be useful for the treatment of cancer, leprosy, tuberculosis, colitis, inflammatory bowel disease, Alzheimer’s, Parkinson’s and Huntington’s disease.
New protein arginine N-methyltransferase 5 (PRMT5) inhibitors are detailed in a Scinnohub Pharmaceutical Co. Ltd. patent and described as potentially useful for the treatment of cancer.
A recent patent from Korea University Research & Business Foundation Sejong Campus describes quinazoline-benzimidazole derivatives acting as microtubule destabilizers (tubulin polymerization inhibitors) and HER2 inhibitors reported to be useful for the treatment of cancer.
Branchio-Oto-Renal syndrome 1 (BOR1) is caused by pathogenic variants in the EYA1 gene, and the gene behind the pathogenesis of BOR2 is SIX5. Growing evidence exists regarding GATA and PAX-SIX-EYA-DACH transcriptional networks playing a key role in normal development. A case report of a patient harboring a new variant in the DACH1 gene was recently presented.
Polyglutamine (polyQ) diseases, a group of dominantly inherited CNS disorders, are caused by an abnormal expansion of cytosine-adenine-guanine repeats (usually over 35-40 repeats). PolyQ diseases, including spinocerebellar ataxia and Huntington’s disease, cause brain neurodegeneration, leading to progressive motor and often cognitive signs.
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