Transcriptional contingency in the early hematopoiesis of inherited bone marrow failure syndromes

Integrated scRNAseq of hematopoietic stem and progenitor cells from Fanconi anemia and Telomere Biology disorders reveals syndrome- and cell-type–specific transcriptional programs, including inflammatory and proliferation pathway upregulation.

• Why it matters: IBMFS share clinical features, but the shared versus distinctive transcriptional programs in their HSPC compartment that may underlie these manifestations remain poorly defined.
• What they did: The study integrated publicly available scRNAseq datasets of HSPCs from patients with Fanconi anemia (FA), Telomere Biology disorders (TBD), and healthy controls, applying quality control, batch correction, dimensionality reduction, clustering, and cell-type annotation.
• The result: Distinct gene expression profiles emerged per syndrome and per cell type, alongside coordinated programs with increased inflammatory and cell proliferation pathway activity, enabling a comparative, integrated atlas for IBMFS.

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