Blood protein analysis could help diagnose rare diseases missed by genome sequencing
A study involving Genomics England and other institutions demonstrates that blood protein analysis can help diagnose rare diseases that remain unresolved by genome sequencing alone. By measuring proteins, researchers can better interpret genetic variants of uncertain significance.
Why it matters
This approach offers a more comprehensive diagnostic tool for patients with rare diseases who currently lack definitive answers from standard genetic testing.
edited by Gaby Clark , reviewed by Robert Egan
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Add as preferred source Credit: https://kaboompics.com/ from Pexels Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping to identify diagnoses and potential new disease-causing genes that genome sequencing alone has been unable to resolve.
The study analyzed blood samples from people with rare diseases who remained without a genetic diagnosis following analysis through Genomics England's 100,000 Genomes Project.
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