Researchers at the Centre for Genomic Regulation (CRG) in Barcelona, EMBL Heidelberg, the German Cancer Research Center and the Berlin Institute of Health have created the most detailed atlas of gene expression of human blood and bone marrow cells to date.

The study, published in the journal Nature Immunology, provides unprecedented detail about the formation of blood, offering important clues on what happens when this process goes wrong and results in blood disorders such as leukaemia.

The understanding of the biology underlying the formation of blood has changed radically over the past few years. According to the authors of the study, this has not translated into improved clinical diagnostics or research surrounding blood disorders, which continue to rely on outdated methodologies developed decades ago.

“Flow cytometry, a diagnostic technology found commonly in research centres and hospitals worldwide, is the main work horse of haematologists and immunologists. However, it relies on markers and methodologies from the 90s that have been shown to be highly inaccurate. We need to define markers that more closely reflect the biology of the system,” says Lars Velten, Group Leader at the CRG and author of the study.

The researchers hypothesised that comprehensively analysing what genes are expressed in the many types and stages of blood and bone marrow cells that make up the human haematopoietic system could reveal new markers and improve the diagnostic capacities in hospitals.

The authors of the study analysed more than a hundred thousand individual blood and bone marrow cells, creating the most detailed map of the haematopoietic system to date. The atlas revealed new cell surface markers, including some directly linked to the exact stage of differentiation arrest in cancerous cells.

An important benefit of the map is that researchers and clinicians can keep using flow cytometry, using the map to visualize their results in context. This new strategy has the potential to improve diagnostics while keeping costs low, saving time and making the benefits accessible to more patients.

According to the authors, the markers can provide doctors with vital information to detect blood diseases such as leukaemia, assess their type, predict their progression and inform treatment. They plan on further validating their findings to assess how they may impact clinical practice.

Dr. Lars Velten, Group Leader at the CRG and co-author of the study

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