Fibrodysplasia ossificans progressiva is a rare and life-threatening genetic disease caused by gain-of-function mutations in the ALK2 gene, which encodes activin receptor-like kinase 2. Blueprint Medicines Corp. has elucidated the discovery of their ALK2 inhibitor BLU-782, which is now in phase II studies at Ipsen for the treatment of FOP.

Sepsis occurs when there is a dysregulated host response to infection, resulting in organ dysfunction. According to the Global Burden of Disease study, about 50 million people annually worldwide develop severe sepsis or septic shock, and 11 million of them die. Growing evidence suggests that changes to the vascular endothelium, which becomes more permeable to fluid, protein and inflammatory cells, are behind the pathogenesis of sepsis and septic shock.

In a study from the PHOSP-COVID and ISARIC-4C consortia in the U.K., researchers have discovered inflammatory processes taking place during what is termed “long COVID.” Long COVID is defined by the World Health Organization (WHO) as the continuation or development of new symptoms for 3 or more months after the initial SARS-CoV-2 infection. It is estimated that 1 in 10 SARS-CoV-2 infections results in long COVID, thus affecting about 65 million people worldwide.

Organoids are 3D models created from human stem cells and resemble fetal tissues. In an article published in Nature Medicine on March 4, 2024, researchers from University College London provided details on the possibility of generating organoids from epithelial cells collected from amniotic fluid without terminating the pregnancy.

Researchers from the University of Illinois at Chicago and Harvard University have published details on the chemical synthesis and microbiological evaluation of a ribosome-binding antibiotic – cresomycin (CRM) – that was able to overcome antimicrobial resistance of major pathogenic bacteria including Escherichia coli, Staphylococcus aureus, Pseudomonas aeruginosa and others.

It is well known that protein tau forms aggregates in the brain in neurodegenerative diseases such as Alzheimer’s disease (AD) that are also known as tauopathies. Accumulation of protein tau in the brain leads to the cell toxicity and promotes the loss of synaptic plasticity, which in turn causes memory loss. As reported on Feb. 1, 2024, in The Journal of Clinical Investigation, assistant professor Tara Tracy and her research team from the Buck Institute for Research on Aging have discovered a protein in the brain that could restore this damage induced by protein tau.

Immune checkpoint inhibitors (ICIs), such as anti-CTLA-4 antibodies, are widely used in cancer immunotherapy. CTLA-4 blockers such as Yervoy (ipilimumab, Bristol Myers Squibb Co.) stimulate antitumoral immune responses, but may also induce toxicity, such as colitis, a common immune-related adverse event that can lead to treatment discontinuation.

In an article published on Dec. 18, 2023, in Nature, researchers from the Centre for Genomic Regulation in Barcelona (Spain) and Wellcome Sanger Institute in Hinxton (U.K.) reported achieving a milestone regarding KRAS targeting in cancer. The team quantified the impact of >26,000 KRAS variants and how these mutations affected protein folding and its interaction with the six main effectors – RAF1, PIK3CG, RALGDS, SOS1, K27 and K55.

Lung adenocarcinoma may be cornered by a recent finding coming from a study published on Nov. 30, 2023, in the Proceedings of the National Academy of Sciences. This investigation has unveiled that a tumor suppressor molecule called RNA-binding motif protein 10 (RBM10) partners with two ribosomal proteins, which in turn inactivate the well-known oncogene Myc proto-oncogene protein (c-Myc).