Researchers at Gladstone Institutes and Stanford University have developed a breakthrough genomic mapping technique that reveals how thousands of genes work together to cause complex diseases. Published in Nature on December 10, 2025, this approach could revolutionize drug development by identifying better therapeutic targets.
Traditional genome-wide association studies have identified genetic variants linked to diseases, but understanding why these variants matter has remained elusive. The challenge intensifies with complex conditions where thousands of genes interact simultaneously.
The new method combines two powerful data sources: experimental results from systematically disabling individual genes in human cells, and genetic information from over 500,000 people in the UK Biobank. This dual approach creates detailed maps showing not just which genes are involved, but how they connect and influence disease.
Testing their technique on red blood cell traits, the team uncovered intricate gene networks. They found that single genes like SUPT5H can simultaneously affect multiple biological processes – activating hemoglobin production while slowing cell division and autophagy, creating synergistic effects that influence conditions like beta thalassemia.
Lead researcher Alex Marson notes the technique is especially promising for immunology. Many autoimmune diseases, immune deficiencies, and allergies are linked to T cells, and this mapping approach could finally explain the genetic architecture underlying these immune-mediated conditions. The tool is applicable to any human cell type, potentially unlocking new insights across numerous diseases.
Research article: Scientists find the missing links between genes and disease
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