Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations. Read More
Mutations in the TP53 gene occur in approximately half of human cancer types, with the TP53 Y220C mutation found in 1% of all solid tumors. Researchers from PMV Pharmaceuticals Inc. and collaborators described the effect of rezatapopt (PC-14586), a first-in-class selective p53 reactivator designed to reinstate p53 Y220C mutant function. Read More
Avian influenza viruses, particularly the H5 and H7 subtypes, can cause widespread outbreaks in birds and pose a significant zoonotic risk due to their potential to mutate and develop the ability for human-to-human transmission. Researchers from the University of Muenster described the preclinical efficacy of zapnometinib, a selective MEK1/2 inhibitor, against H5N1 clade 2.3.4.4b. Read More
Derm-Biome Pharmaceuticals Inc. has reported findings from a study of its topical drug DB-007-5 in a well-established preclinical model of human atopic dermatitis. Read More
Researchers from Medizinische Hochschule Hannover and affiliated organizations reported data from studies aimed to identify non-coding microRNAs (miRNAs) with therapeutic potential against liver fibrosis in hepatocellular carcinoma (HCC). Functional screening of patient-derived primary human hepatic myofibroblasts, followed by in vivo validation in mouse models of fibrosis, were performed in search of antifibrotic miRNAs. Read More
Medigene AG and Epimab Biotherapeutics Inc. have entered a strategic codevelopment agreement to research and develop off-the-shelf T-cell receptor (TCR)-guided T-cell engagers (TCR-TCEs) for the treatment of immune-related disorders, such as solid tumors. Read More
Kind Pharmaceuticals LLC has patented substituted benzocyclobutene compounds acting as erythropoietin (EPO) production inhibitors reported to be useful for the treatment of cancer and polycythemia. Read More
Researchers from Universidad del País Vasco and affiliated organizations presented data from a study that aimed to investigate the role of macrophage receptor with collagenous structure (MARCO) in intrahepatic cholangiocarcinoma. Read More
The Council of Scientific and Industrial Research (India) has synthesized new benzo[de]isoquinoline-1,3-dione-based fluorophore probes acting as decaprenylphosphoryl-β-D-ribose oxidase (DprE1) (M. tuberculosis) inhibitors reported to be useful for the diagnosis and treatment of tuberculosis. Read More
Scientists from the Lebanese American University investigated the role of acetyl-CoA synthetase short chain family member 2 (ACSS2) in inflammatory bowel disease, including ulcerative colitis and Crohn’s disease. Read More
Current decolonization methods for methicillin-resistant Staphylococcus aureus (MRSA) face several challenges, including resistance development or microbiome disruption. Hypharm GmbH has presented data regarding their recombinant chimeric bacteriophage endolysin HY-133 for the potential treatment of MRSA infection. HY-133 targets S. aureus and its design combines the CHAP domain from phage K with the cell wall-binding domain of lysostaphin. Read More
Work at the Chinese University of Hong Kong has led to the identification of bilobalide derivatives reported to be useful for the treatment of cancer, Alzheimer’s and Parkinson’s diseases. Read More
Epstein-Barr virus (EBV), a member of the herpesvirus family, is a highly common human pathogen that can remain latent in B lymphocytes after the primary infection. Although this latent state is frequently asymptomatic, in some cases, it can lead to the development of malignancies such as Burkitt lymphoma, Hodgkin lymphoma, nasopharyngeal carcinoma, and some gastric cancer subtypes. Read More
Shanghai Institute of Materia Medica of the Chinese Academy of Sciences and Zhejiang University have jointly discovered N2-3-fluoro-5-substituted phenyl-2-aminopyrimidine derivatives. Read More
