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Category: biotech/medical

Genetically modified marmosets as a model for human deafness provide a foundation for future gene therapies

Why are some people unable to hear from birth, even though their inner ear appears intact? One possible cause lies in the so-called OTOF gene. It plays a central role in transmitting sound signals from the hair cells to the auditory nerve. Without this function, acoustic information does not reach the brain.

Researchers from the German Primate Center—Leibniz Institute for Primate Research, the University Medical Center Göttingen, and the Max Planck Institute for Multidisciplinary Sciences have now, for the first time, generated marmosets in which this gene has been knocked out precisely. The animals are healthy and develop normally, but are deaf from birth. This provides the first primate model that realistically replicates key characteristics of human deafness. The results are published in Nature Communications.

Hearing loss is one of the most common congenital sensory disorders in humans. A major cause is a defect in the OTOF gene. This gene ensures that the protein otoferlin is produced in the inner ear. This protein is necessary for sound signals to travel from the hair cells to the auditory nerve. Without it, the ear still functions externally, but the signals do not reach the brain.

Contrast-Associated Acute Kidney Injury After Thrombectomy for Ischemic StrokePrognostic Impact and CAN-REST Predictive Score

In this large, international cohort, contrast-associated acute kidney injury occurred in approximately 1 in 20 endovascular thrombectomy-treated patients with acute ischemic stroke and was independently associated with poor outcomes. A simple preprocedural risk score enables early identification of high-risk individuals and may support preventive strategies.

Background and Objectives.

POEMS syndrome: a neuromuscular perspective

POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein and Skin changes) syndrome is a rare multisystem disorder where early identification is essential for better long term outcomes. Yet it is often misdiagnosed. Gonçalves et al review the condition here:

https://jnnp.bmj.com/content/early/2026/01/30/jnnp-2025-…e=facebook.

And this is a related editorial: https://jnnp.bmj.com/content/early/2026/01/30/jnnp-2025-…e=facebook

Polyneuropathy, Organomegaly, Endocrinopathy, M-protein and Skin changes (POEMS) syndrome is a rare multisystemic disorder associated with plasma cell dyscrasia, most commonly presenting with peripheral neuropathy. Due to its complex and heterogeneous clinical presentation, misdiagnosis is frequent, particularly with chronic inflammatory demyelinating polyradiculoneuropathy, which often leads to delays in appropriate management. Peripheral nerve involvement in POEMS syndrome is predominantly demyelinating, typically accompanied by early axonal degeneration. Specific clinical, neurophysiological and imaging features are key to differentiating POEMS from other acquired demyelinating neuropathies.

Study reveals why some cancer therapies don’t work for all patients

Drugs that block enzymes called tyrosine kinases are among the most effective targeted therapies for cancer. However, they typically work for only 40 to 80 percent of the patients who would be expected to respond to them.

In a new study, MIT researchers have figured out why those drugs don’t work in all cases: Many of these tumors have turned on a backup survival pathway that helps them keep growing when the targeted pathway is knocked out.

“This seems to be hardwired into the cells and seems to be providing activation of a critical survival pathway in cancer cells,” says Forest White, the Ned C. and Janet C. Rice Professor of Biological Engineering at MIT. “This pathway allows the cells to be resistant to a wide variety of therapies, including chemotherapies.”

Cell ratio control using synthetic circuits

PrimeC demonstrated comparable safety to placebo and showed slowed functional decline, reduced ALS-related complications, and modulation of iron-regulatory and microRNA biomarkers in adults with ALS over 18 months of treatment.

Question Is PrimeC safe and well tolerated in people with amyotrophic lateral sclerosis (ALS), and does it demonstrate clinical and biomarker activity?

Findings In this randomized clinical trial, PrimeC demonstrated a safety profile comparable to placebo over 18 months. Continuous treatment was associated with slower functional decline, reduced risk of ALS-related complications, and increased probability of overall survival, alongside significant modulation of iron-regulatory and microRNA biomarkers.

Meaning These findings reinforce the safety and treatment effect in conjunction with biologic activity of PrimeC treatment and support confirmatory evaluation in phase 3 trial as a potential disease-modifying therapy for ALS.

Significant Genes Associated with Mortality and Disease Progression in Grade II and III Glioma

Background: The Wnt/β-catenin pathway plays a critical role in the tumorigenesis and maintenance of glioma stem cells. This study aimed to evaluate significant genes associated with the Wnt/β-catenin pathway involved in mortality and disease progression in patients with grade II and III glioma, using the Cancer Genome Atlas (TCGA) database. Methods: We obtained clinicopathological information and mRNA expression data from 515 patients with grade II and III gliomas from the TCGA database. We performed a multivariate Cox regression analysis to identify genes independently associated with glioma prognosis. Results: The analysis of 34 genes involved in Wnt/β-catenin signaling demonstrated that four genes (CER1, FRAT1, FSTL1, and RPSA) related to the Wnt/β-catenin pathway were significantly associated with mortality and disease progression in patients with grade II and III glioma.

Periodic Therapeutic Phlebotomy Mitigates Systemic Aging Phenotypes by Promoting Bone Marrow Function

Leeches, anyone? https://www.facebook.com/photo.php?fbid=1259991996251634&set…680&type=3

Aging is the primary risk factor for numerous chronic diseases, making the identification of safe and effective anti-aging strategies a critical focus in biomedical research. Heterochronic parabiosis by blood exchange shows that the exchange interaction between young and old plasma can exert anti-aging effects through exchange of bloodborne factors. However, the limited plasma source greatly affects clinical translation. Here, we demonstrate that periodic therapeutic phlebotomy in D-galactose-induced aging models exerts significant and comprehensive anti-aging effects, which is reflected by a notable improvement in aging-associated behavioral deficits and neurogenesis, a significant decrease in the level of circulating senescence-associated secretory phenotypes, and an obvious mitigation of aging-associated structural degradation and molecular alterations within the muscle, bone, liver, kidney, and nervous systems. Mechanistically, periodic therapeutic phlebotomy induces bone marrow microenvironment restoration through functional rescue of mesenchymal stem cells and endothelial cells, thereby reestablishing balanced hematopoietic homeostasis. This hematopoietic revitalization subsequently drives systemic improvements in peripheral blood composition and function. In conclusion, our work provides preliminary evidence suggesting that periodic therapeutic phlebotomy exerts anti-aging effects by restoring bone marrow function and mitigating aging phenotypes, subsequently driving peripheral blood functional restoration. Given its technical simplicity and safety profile, this periodic therapeutic phlebotomy strategy will hold potential to pave the way for clinical translation.

Current Knowledge on the Use of Neuromonitoring in Thyroid Surgery

Thyroid surgery rates have tripled over the past three decades, making it one of the most frequently performed procedures within general surgery. Thyroid surgery is associated with the possibility of serious postoperative complications which have a significant impact on the patient’s quality of life. Recurrent laryngeal nerve (RLN) palsy and external branch of the superior laryngeal nerve (EBSLN) palsy are, next to hypoparathyroidism and postoperative bleeding, some of the most common complications. The introduction of neuromonitoring into thyroid surgery, which enabled both the confirmation of anatomical integrity and the assessment of laryngeal nerve function, was a milestone that began a new era in thyroid surgery.

Quantum magnetism: Spin-flip process in atomic nucleus does not account for all magnetic behavior

In the air people breathe, the water on Earth, the stars in the sky and more, atoms are the building blocks that make up the universe. Understanding the structure of the atomic nucleus is crucial for research with implications for astrophysics and in applications such as medical imaging and data storage.

A new study conducted by Department of Physics researchers using the John D. Fox Superconducting Linear Accelerator Laboratory at Florida State University examined titanium-50 nuclei and showed that a long-standing explanation for where magnetism in atomic nuclei comes from does not fully work for titanium-50. The research, which was published in Physical Review Letters, suggests that scientists may need to rethink how they explain nuclear magnetism.

“What current models propose is that magnetic strength is largely generated by spin-flip excitations, that means when flipping proton or neutron spins from up to down between so-called spin-orbit partner orbitals,” said Associate Professor Mark Spieker, a co-author on the multi-institution study. “For the first time, we showed that this type of spin-flip cannot be the only mechanism that generates nuclear magnetism.”

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