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BioWorld - Friday, April 3, 2026
Home » Topics » Science » Biomarkers

Biomarkers
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Brain maze
Biomarkers

Biomarker could aid in psychosis diagnosis

Dec. 2, 2024
By Anette Breindl
Researchers at the University of Rochester have described a neuroimaging-based biomarker that could identify individuals with early psychosis, and improved their identification when it was added to a standard neurocognitive diagnostic test. In a group of roughly 160 participants in the Human Connectome Early Psychosis Project, individuals who were in the early stages of psychosis had stronger connections from the thalamus (a midbrain sensory processing area) to the cortex, but weaker connections between different cortical areas, than controls.
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Drug discovery illustration
Biomarkers

Loss-of-function variants linked to neurodevelopmental disorder with hypercholanemia

Nov. 26, 2024
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which is a binding partner for CCDC47. More specifically, Asterix heterodimerizes with CCDC47 to form the protein associated with ER translocon (PAT) complex that specifically chaperones large proteins containing transmembrane domains.
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Illustration of gut bacteria on scales being evaluated by AI chip
Gastrointestinal

Machine learning links microbiome composition to bacterial load

Nov. 22, 2024
By Mar de Miguel
Many studies have linked the presence of specific bacteria to various diseases. But a general overgrowth of gut bacteria can be a symptom of different conditions, including colorectal cancer and inflammatory bowel disease.
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DNA mutations or genetic disorder concept art
Biomarkers

HOXB13 gene involved in metastatic omentum carcinoma, study shows

Nov. 21, 2024
Primary tumors arising in the gastrointestinal system, ovary or pancreas may spread and lead to secondary cancers such as metastatic omentum cancer.
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Illustration of gut bacteria on scales being evaluated by AI chip
Gastrointestinal

Machine learning links microbiome composition to bacterial load

Nov. 19, 2024
By Mar de Miguel
Many studies have linked the presence of specific bacteria to various diseases. But a general overgrowth of gut bacteria can be a symptom of different conditions, including colorectal cancer and inflammatory bowel disease. A study counting gut microbiome proposes that microbial load, rather than the disease, could explain the presence of certain pathogens.
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Genetic/congenital

Novel KDM3B variant found in atypical Diets-Jongmans case

Nov. 19, 2024
The KDM3B gene encodes the histone lysine demethylase lysine-specific demethylase 3B, which is involved in the regulation of transcription.
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Illustration of retinal detachment
Biomarkers

VSX2 variant linked to retinal detachment risk

Nov. 19, 2024
Researchers from the U.K. have analyzed whole-genome sequencing data from 7,276 cases and 236,741 controls in the UK Biobank to perform gene-level and a variant-level exome-wide association study analysis to identify variants related to retinal detachment.
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Illustration of gut bacteria on scales being evaluated by AI chip
Gastrointestinal

Machine learning links microbiome composition to bacterial load

Nov. 15, 2024
By Mar de Miguel
Many studies have linked the presence of specific bacteria to various diseases. But a general overgrowth of gut bacteria can be a symptom of different conditions, including colorectal cancer and inflammatory bowel disease. A study counting gut microbiome proposes that microbial load, rather than the disease, could explain the presence of certain pathogens.
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Eye and DNA
Biomarkers

Iron levels in tears for diagnosis of WDR45-related optic atrophy

Nov. 14, 2024
WDR45 is located on the X chromosome. Its pathogenic variants are associated with various neurodegenerative disorders that are predominantly reported in females and present a wide range of clinical phenotypes, from early-onset developmental delay to neurodegeneration and multiple epileptic syndromes.
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Mouth open wide showing cleft palate
Biomarkers

GRHL2, GRHL3 variants tied to orofacial clefting

Nov. 13, 2024
Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
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