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Diagnostics Genetics and epigenetics, Oncology, Technology and innovation

Research Roundup

Transmission trends

Researchers have investigated the transmission of syphilis by linking national patient demographic, geospatial, and behavioral metadata to whole-genome sequencing of Treponema pallidum samples – the bacteria responsible for the disease. Analyses revealed that sublinegage 1 occurred throughout England and across all patient groups, and such trends prove how genomics can aid epidemiological insights (1).

Scoping out schizophrenia

Past genome wide association studies (GWAS) on schizophrenia have identified 145 genomic regions. Now, researchers have conducted a massively parallel reporter assay on 5,173 fine-mapped schizophrenia GWAS variants to figure out which have a causal effect in schizophrenia development. They found 439 variants with allelic regulatory effects (2).

Change for the better

New diagnostic criteria has recently been developed for metabolic associated fatty liver disease (MAFLD). The criteria was updated to be inclusive and applicable to all ages, regardless of age-related adjustment in some of the variables. The revaluation of MAFLD has increased awareness and bolstered research in the field – and will hopefully help increase diagnostic accuracy (3).  

Stifling stiffness

Tissue stiffening is a mechanical alteration that occurs with the onset of cancer. It starts a chain reaction and causes deformation of neighboring cells and their nuclei – triggering cell proliferation closely related to tumor growth. Researchers have found that laminin – a glycoprotein of the extracellular matrix – mitigates the mechanoresponses of breast epithelial cells, therefore curbs the effects of stiffness and protects cells from tumor growth (4).

Deadly invasion

US researchers have found that the parasites that cause visceral leishmaniasis – Leishmania donovani – can infect non-immune cells. Single cell RNA sequencing revealed that the monocytes and macrophages of spleen tissue in mice were populated with the parasites. They were also found in the bone marrow of hematopoietic stem cells (5).

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  1. M A Beale et al., Lancet Microbe [Online ahead of print] (2023). PMID: 37722404
  2. J C McAfee., Cell Genomics (2023). 
  3. M Eslam, J Georg, eGastroenterology, 1 (2023).
  4. Z Kechagia et al., Nat Matter [Online ahead of print] (2023). PMID: 37709930
  5. Konstantinos Karagiannis et al., Cell Rep [Online ahead of print] (2023). PMID: 37682713
About the Author
Georgia Hulme

Associate Editor for the Pathologist

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