A recent study published in Genes & Diseases explores the clinical implications of loss-of-function mutations in IKBKG/NEMO, a key regulator in the NF-κB signaling pathway. These mutations are linked to a range of rare and often severe genetic disorders, including Incontinentia Pigmenti (IP), Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), Immunodeficiency (ID), and NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS). The research aims to provide a comprehensive review of the diverse clinical manifestations associated with mutations in the IKBKG gene, highlighting the genotype-phenotype correlation that has remained elusive due to the variability in IKBKG mutations.

A groundbreaking study published in Genes & Diseases has revealed that exogenous pyruvate significantly alleviates the symptoms of ulcerative colitis (UC) by targeting cytosolic phospholipase A2 (cPLA2). This discovery opens new avenues for the treatment of UC, which remains a chronic inflammatory bowel disease with limited therapeutic options. The study shows that pyruvate can suppress the TNFα/NFκB signaling pathway, which is pivotal in driving inflammation, thereby offering a novel approach to mitigating UC symptoms.

A recent study published in Genes & Diseases reveals new insights into the relationship between immune cell characteristics, blood metabolites, and the risk of urolithiasis. Using Mendelian randomization (MR) and mediation analysis, the research highlights how genetically predicted blood metabolites mediate the association between specific immune cell profiles and the development of urinary stones. The findings shed light on potential pathogenic mechanisms and suggest novel therapeutic targets for this widespread and recurrent condition.

A recent study published in Genes & Diseases has unveiled a novel mechanism by which the restriction of YWHAB-mediated YAP cytoplasmic retention plays a crucial role in maintaining stemness and chemoresistance in ovarian cancer peritoneal metastasis (OCPM). Researchers have found that the down-regulation of YWHAB in OCPM cells promotes the activation of YAP signaling, enhancing the cancer cells' ability to resist chemotherapy and maintain stem-like characteristics. This discovery may lead to innovative therapeutic strategies targeting the YWHAB-YAP pathway to combat the high mortality associated with ovarian cancer metastasis.

A new technology that uses clinical MRI machines to image metabolic activity in the brain could give researchers and clinicians unique insight into brain function and disease, researchers at the University of Illinois at Urbana-Champaign report. The non-invasive, high-resolution metabolic imaging of the whole brain revealed differences in metabolic activity and neurotransmitter levels among brain regions; found metabolic alterations in brain tumors; and mapped and characterized multiple sclerosis lesions — with patients only spending minutes in an MRI scanner.

A collaborative multidisciplinary team of researchers from the Perelman School of Medicine and New York University has developed a miniature chip that could transform how blood cancer treatments are tested and tailored for patients. “This device addresses a significant gap in preclinical research, offering an advanced tool for studying CAR T cell therapy’s dynamic and multifaceted responses to leukemia,” says Saba Ghassemi of the Perelman School of Medicine at the Unviersity of Pennsylvania.

BUFFALO, NY – July 1, 2025 – A new review was published in Volume 16 of Oncotarget on June 17, 2025, titled “Optimizing enfortumab vedotin plus pembrolizumab therapy.”

In animal studies, brain tumors nearly disappeared when an experimental drug, MT-125, was given as a combo with an oncology drug that otherwise does not work on aggressive glioblastoma. The U.S. Food and Drug Administration has given MT-125 investigational new drug status, greenlighting clinical trials.