The latest breakthroughs in pathology and laboratory medicine – in a succinct summary
Georgia Hulme | | News
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A genome-wide association study has conducted cross-trait meta-analysis to explore pleiotropic single nucleotide polymorphisms, genes, and biological pathways that could be shared by 12 psychiatric disorders (1). Although genetic overlap was observed, it was seen among pairs of psychiatric disorders – rather than shared by all disorders. Further, only annotations related to evolutionarily conserved genomic regions were significant for nine out of 12 psychiatric disorders.
Same, but different
Clonal hematopoiesis is characterized by the over-representation of mutated hematopoietic stem cells. In a recent study, researchers collated exome sequence data on 628,388 individuals to identify 40,208 carriers of clonal hematopoiesis of indeterminate potential (CHIP). Germline genetic variation influenced predisposition at 24 loci. Overall, the researchers concluded that CHIP has a complex set of heterogeneous phenotypes with joint and unique germline genetic causes (2).
A novel, point-of-care, transistor-based biosensor successfully detected CIP2A – a protein that is highly pronounced in oral cancer (3). The biosensor proved to be highly sensitive, and detected 1 × 10-15 g/m of pure CIP2A protein at dilution. Next, the biosensor will be applied to in vivo samples of CIP2A in oral, and non-oral cancer patients.
In a recent study, plasmonically enhanced lateral flow assays (p-LFAs) outperformed laboratory gold-standard LFAs, returning results in 20 minutes with improved sensitivity (4). The p-LFAs accurately detected and quantified protein concentration in a standard-free manner – allowing laboratory professionals to detect bacterial and viral infections.
Bigger fish to fry
A group of international researchers have developed a new technique – radial symmetry-fluorescent in-situ hybridization (RS-FISH) – to overcome the slow processing restrictions of regular FISH-based methods (5). RS-FISH is rapid, accurate, and uses interactive software for spot detection in 2D and 3D images, where high detection accuracy can be achieved across a variety of signal-to-noise ratios.
- C Romero et al., Nat Genet, 54, 1795 (2022). PMID: 36471075
- M Kessler et al., Nature, 612, 301 (2022). PMID: 36450978
- M Xian et al., J Vac Sci Technol B Nanotechnol Microelectron, 41 (2023). PMID: 36531804
- R Gupta et al., Nat Biomed Eng [Online ahead of print] (2023). PMID: 36732621
- E Bahry et al., Nat Methods, 19, 1563 (2022). PMID: 36396787