The lab of Yongchao C. Ma, PhD, at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered a fundamental biological mechanism that could lead to new treatments for neurological diseases, such as spinal muscular atrophy (SMA) and autism, as well as different cancers. The study was published in the journal Human Molecular Genetics.

Dr. Ma's team found that chemical modification of RNA (called RNA methylation) regulates mitochondrial function.

The Janus kinase 2 (JAK2) protein mediates signaling from several cytokine receptors in the regulation of hematopoiesis and immune responses. Somatic mutations in human JAK2 lead to constitutive activation and cytokine-independent signaling and underlie several hematological malignancies from myeloproliferative neoplasms (MPN) to acute leukemia and lymphomas. JAK2 contains an active kinase domain and an inactive pseudokinase domain. Interestingly, pathogenic mutations mainly occur in the regulatory pseudokinase domain.

A novel treatment for leukemias and lymphomas that arise from immune system T cells, developed by investigators at the Johns Hopkins Kimmel Cancer Center and its Ludwig Center and Lustgarten Laboratory, was found to be effective at killing these cancers in mice bearing human T-cell tumors.

The therapy, an antibody-drug conjugate (ADC), combines an antibody that targets a protein called TRBC1 expressed on the surface of T-cell cancers with an anti-cancer drug, called SG3249.

Changes in the gut microbiome have been implicated in a range of diseases including type 2 diabetes, obesity, and inflammatory bowel disease. Now, a team of researchers at the Broad Institute of MIT and Harvard along with Massachusetts General Hospital has found that microbes in the gut may affect cardiovascular disease as well. In a study published in Cell, the team has identified specific species of bacteria that consume cholesterol in the gut and may help lower cholesterol and heart disease risk in people.

Mayo Clinic scientists have developed an immunotherapy strategy that potentially lays the groundwork for treating a spectrum of autoimmune diseases.

The new technique, detailed in a preclinical study published in Nature Biomedical Engineering, involves combining chimeric antigen receptors (CAR) with mesenchymal stromal cells (MSC), resulting in engineered stem cells known as CAR-MSCs.

A transformative study published in Health Data Science, a Science Partner Journal, introduces a groundbreaking end-to-end deep learning framework, known as Knowledge-Empowered Drug Discovery (KEDD), aimed at revolutionizing the field of drug discovery. This innovative framework adeptly integrates structured and unstructured knowledge, enhancing the AI-driven exploration of molecular dynamics and interactions.

Implementing a single shared digital prescribing record across the NHS in England could avoid nearly 1 million drug errors every year, stopping up to 16,000 fewer patients from being harmed, and saving up to 22 lives every year, suggests a modelling study, published online in BMJ Quality & Safety.

The figures, which are based on the assumption that such a system could reduce medication errors by at least 10%, and by as much as 50%, could also save £millions for the NHS, say the researchers.