Biomarkers

Blood-based circRNAs for early detection and monitoring of Alzheimer’s

Tue, 07 Jul 2026 09:00:00 -0400

In a recent study, researchers from Washington University School of Medicine and collaborators analyzed cross-sectional blood samples to identify circRNAs associated with Alzheimer’s disease (AD) clinical status, amyloid-β and tau stages, and progression to symptomatic AD.

Case report links APOLD1 variant to vascular-type bleeding disorder

Tue, 23 Jun 2026 09:00:00 -0400

Vascular-type bleeding disorder (BDVAS) is a rare, autosomal dominant disorder mainly caused by impaired vascular integrity.

KANSL2 is oncogene and actionable biomarker in multiple myeloma

Thu, 18 Jun 2026 09:00:00 -0400

Due to the availability of drugs targeting histone acetylation and associated reader proteins, the equilibrium of histone acetylation and deacetylation has attracted attention in multiple myeloma as a potential therapeutic target. Therefore, the identification of novel predictive biomarkers for multiple myeloma patient selection for epigenetic therapies is urgently needed.

UTRN gene involved in arthrogryposis, study finds

Wed, 17 Jun 2026 09:00:00 -0400

Arthrogryposis multiplex congenita (AMC) is a group of disorders defined by two or more contractures in different body areas; while genes encoding sarcomeric proteins are usually involved in its pathogenesis, the role of the dystrophin complex is not well studied in AMC. Utrophin, encoded by the UTRN gene, is an important fetal dystrophin homologue and was the focus of a recently presented study.

Gene replacement rescues autism-related phenotypes in mice

Mon, 15 Jun 2026 09:00:00 -0400

Autism spectrum disorder (ASD), developmental epileptic encephalopathies and other neurodevelopmental disorders are driven by the disruption of genes regulating neuronal proliferation, differentiation and synaptic maturation. Researchers from Shanghai Jiao Tong University School of Medicine generated Csnk2b haploinsufficient (Csnk2b+/-) mice mimicking the most relevant disease features to investigate the effects of reduced gene dosage.

Anti-C5aR1 antibodies linked to outcomes in giant cell arteritis

Fri, 12 Jun 2026 09:00:00 -0400

More effective glucocorticoid-sparing therapies are needed for the treatment of giant cell arteritis (GCA). Studies found that complement signaling pathways involving complement factor 5 and its receptor (C5aR1) were overexpressed, and that a C5aR1 antagonist, avacopan, reduced the need for glucocorticoids and improved renal recovery. This led researchers to investigate the association of anti-C5aR1 antibodies with GCA and its outcomes.

CD45RC identified as therapeutic target in Sjögren disease

Thu, 11 Jun 2026 09:00:00 -0400

CD45RC is an isoform of protein tyrosine phosphatase receptor type C, a protein that plays a key role in regulating antigen receptor signaling in T and B cells. While it is expressed on most circulating B cells, it is only highly expressed on Th1 precursors, Th1 cells and T effector memory CD45RA+ cells (TEMRA).

Pre-disease plasma signature may help redefine lung cancer risk

Tue, 09 Jun 2026 09:00:00 -0400

Researchers have identified a 14-protein blood signature that can predict lung cancer risk as much as five years before diagnosis, and the findings could help identify people who could benefit from preventive drugs. Published in Cell, the study was a collaboration between the Francis Crick Institute and University College London. It was co-led by Walter and Eliza Hall Institute laboratory head Clare Weeden, who conducted the research while at the Crick.

Researchers identify innate immune barrier against melanoma

Tue, 26 May 2026 09:00:00 -0400

Australian researchers have identified a previously overlooked population of immune cells in the skin that physically restrain melanoma growth by engulfing live melanoma cells, and the discovery could reshape thinking around macrophage-targeted cancer therapies and innate immunity in oncology.

Menstrual ‘footprints’ may act as broad personal health markers

Fri, 22 May 2026 09:00:00 -0400

WAVES, an algorithm designed to extract menstrual-cycle metrics from physiological signals such as basal body temperature, which oscillates with sex hormones, shows how different parameters change with age and helps determine whether each person maintains a stable individual pattern or personal footprint. A study based on data from 5,674 cycles from 753 women demonstrates through this tool that age is associated with higher temperatures, shorter cycles, and greater irregularity. In addition, several metrics show within-person stability, suggesting they could serve as personalized health markers.

Circulating sncRNA transcriptome in diabetic kidney disease and SGLT2 inhibitor treatment

Thu, 07 May 2026 09:00:00 -0400

Small noncoding RNAs (sncRNAs), including miRNAs, piRNAs and snoRNAs, can provide further biological insights into the mechanisms of chronic kidney disease (CKD) in diabetes. Researchers from Leiden University Medical Center and collaborating institutions previously discovered that various classes of circulating sncRNAs are associated with kidney function (eGFR, uACR) and prevalent diabetic CKD.

Detecting the invisible: minimal residual disease at AACR 2026

Fri, 24 Apr 2026 09:00:00 -0400

Minimal residual disease (MRD) has become a central concept in modern oncology, reshaping how clinicians evaluate response, relapse risk and treatment precision. As increasingly sensitive technologies reveal traces of cancer that persist after therapy, MRD is emerging as both a biological challenge and a clinical opportunity, especially as new data illuminate its complexity across hematologic and solid tumors. This topic was addressed at the 2026 American Association for Cancer Research (AACR) annual meeting.

With improved technologies, biomarkers, failed drugs may come into their own

Tue, 24 Mar 2026 12:00:00 -0400

At BioEurope Spring 2026, pharma representatives and investors shared their thoughts about current and future landscapes of different disease areas, and on how to move toward success – both at the level of individual companies and for indications as a whole.

Aberrant HORMAD1 expression in TNBC increases sensitivity to mitotic kinase inhibitors

Fri, 20 Mar 2026 09:00:00 -0400

HORMA domain-containing protein 1 (HORMAD1) is a protein that promotes meiotic recombination and its expression is usually restricted to germ-line cells, although it has been shown to be actively expressed out of context in about 60% of triple-negative breast cancers (TNBCs). A team at The Institute of Cancer Research has found that this aberrant expression in tumor cells perturbs mitotic arrest and generates aneuploidy, leading to a weakening of the spindle assembly checkpoint and in kinetochore-microtubule error correction.

Precision psychiatry beyond, or before, biomarkers

Fri, 13 Mar 2026 09:00:00 -0400

There is broad agreement that psychiatric diagnoses in their current form are not reflective of any underlying biology, and that this is one of the things hampering psychiatric drug development. “We are still fully reliant on descriptive diagnoses that yield heterogeneous patient cohorts,” Steve Hyman told the audience at the European Congress of Neuropsychopharmacology (ECNP) Roadmap Meeting on Precision Psychiatry in Amsterdam in January.

GWAS identifies variant associated with diabetic retinopathy and susceptibility to T2D

Fri, 06 Mar 2026 08:00:00 -0500

Scientists at the University of Nottingham Ningbo China and collaborators aimed to identify genetic variants associated with diabetic retinopathy.

SCAN is core circuit affected in Parkinson’s disease

Wed, 18 Feb 2026 08:00:00 -0500

Parkinson’s disease is a neurodegenerative disorder that affects movement, and tremor is one of its signatures. But it is a much more wide-ranging disorder, and patients experience problems with cognitive and emotional processes as well. SCAN, the somato-cognitive action network identified in 2023, could reshape the definition of PD. Treating this circuit can improve outcomes.

IL-22 and TL1A, a robust couple for diagnosing hidradenitis suppurativa

Thu, 12 Feb 2026 08:00:00 -0500

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with strong association with psoriasis and inflammatory bowel disease (IBD). While some signaling pathways are well defined in HS, the role of TNF-like ligand 1 (TL1A) is not well understood. A group of researchers has investigated the association of TL1A with HS, as well as its association with other cytokine networks.

TL1A is overexpressed in hidradenitis suppurativa

Mon, 09 Feb 2026 08:00:00 -0500

Despite the availability of advanced therapeutic options, about 40%-50% of patients with hidradenitis suppurativa do not achieve significant improvement in disease activity, thus there is a need for novel medications.

SCAN is core circuit affected in Parkinson’s disease

Fri, 06 Feb 2026 08:00:00 -0500

Parkinson’s disease (PD) is a neurodegenerative disorder that affects movement, and tremor is one of its signatures. But it is a much more wide-ranging disorder, and patients experience problems with cognitive and emotional processes as well. SCAN, the somato-cognitive action network identified in 2023, could reshape the definition of PD. Treating this circuit can improve outcomes.

MJFF grant supports Bexorg’s translational biomarker work

Thu, 29 Jan 2026 08:00:00 -0500

Bexorg Inc. has been awarded a research grant from The Michael J. Fox Foundation for Parkinson’s Research (MJFF) through the Targets to Therapies initiative to identify translational biomarkers for TRPML1-targeted therapies.

REST emerges as biomarker in ALS, knockdown improves ALS symptoms

Mon, 26 Jan 2026 08:00:00 -0500

About 10% of amyotrophic lateral sclerosis (ALS) cases result from inherited genetic mutations, with about 20% of them attributed to mutations in the gene encoding the ubiquitous cytoplasmic copper/zinc superoxide dismutase 1 (SOD1).

MicroRNAs in circulating extracellular vesicles as IPF biomarkers

Fri, 23 Jan 2026 08:00:00 -0500

MicroRNAs (miRNAs) are small noncoding RNAs gaining increasing attention due to their crucial role in gene expression regulation and influence in various cellular processes and diseases. miRNAs can be encapsulated in extracellular vesicles (EVs), which are released by most cell types to modulate gene expression in recipient cells.

Brain-derived tau in blood predicts stroke severity and outcome

Mon, 19 Jan 2026 08:00:00 -0500

Brain-derived tau, a protein that is exclusive to the brain and detectable in the blood, could serve as an indicator of brain damage after an ischemic stroke. The analysis of this special form of tau has revealed a relationship between high levels of the protein and extensive brain injury, a higher risk of complications, and poorer outcomes.

Biallelic variants in COX18 identified as cause of Charcot-Marie-Tooth disease

Fri, 16 Jan 2026 08:00:00 -0500

Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous sensorimotor peripheral neuropathies. It is the most frequent inherited neuromuscular disorder affecting 9.7-82.3 patients per 100,000 individuals. Over 100 genes with all patterns of inheritance have been linked to CMT. These genes encode proteins involved in nerve-specific processes, such as axonal transport, myelination and synaptic transmission, and in general housekeeping pathways. However, the reason underlying why defects in such ubiquitous proteins predominantly affect peripheral nerves remains unclear.

Neurotrimin unveiled as marker in intellectual disability

Tue, 13 Jan 2026 08:00:00 -0500

Neurotrimin (NTM) is a member of the IgLON family, the disruption of which has been tied to emotional learning deficits and anxiety-like behavior in animal models. A mutation in the NTM gene was found to disrupt NTM protein heterodimerization with other IgLON family members, suggesting a potential link between NTM dysfunction and neurodevelopmental and behavioral disorders.

SERPINB1 as potential biomarker for spinocerebellar ataxia type 2

Mon, 05 Jan 2026 08:00:00 -0500

Researchers from Goethe-Universität and collaborators investigated novel molecular biomarker candidates for spinocerebellar ataxia type 2, a progressive neurodegenerative disorder caused by a CAG repeat expansion mutation in the coding region of the ATXN2 gene, which encodes ataxin-2.

LINC01116 has prognostic value in lung cancer, study shows

Fri, 02 Jan 2026 08:00:00 -0500

Long noncoding RNAs (lncRNAs) have emerged as potential markers of disease, since they associate with proteins that regulate gene expression, translation or stability, among others, and where hypoxia might play a role in this scenario. In recently published work, researchers analyzed clinical data from patients with lung adenocarcinoma to identify hypoxia-modulated lncRNAs in vivo and in vitro, and which could correlate with prognosis.

LINC01116 has prognostic value in lung cancer, study shows

Tue, 30 Dec 2025 08:00:00 -0500

Mesothelin is biomarker, potential target in arthritic bone damage

Tue, 25 Nov 2025 08:00:00 -0500

In a recent study published in Cell Reports Medicine, researchers from the Institute of Chinese Materia Medica of the China Academy of Chinese Medical Sciences and Xi’an Jiao Tong University Health Science Center found that Mesothelin (MSLN) was significantly elevated in rheumatoid arthritis (RA) patients and collagen-induced arthritis (CIA) rats and mice, where it drove osteoclast differentiation.