New Nature Genetics study unlocks fresh insights into disease biology and future drug discovery

Published today in Nature Genetics, the study analysed blood samples from around 1,400 volunteers taking part in Genes & Health—a pioneering research programme involving British Bangladeshi and British Pakistani communities, who have historically been underrepresented in genetics research despite experiencing a disproportionate burden of several common diseases.

The international research team used an advanced form of mass spectrometry to measure thousands of proteins circulating in the blood. By comparing this approach with two of the most widely used protein analysis technologies, they demonstrated that no single method captures the full complexity of the human plasma proteome and that newer approaches can reveal important biological information that other technologies may overlook.

The researchers identified more than 1,200 genetic associations with blood protein levels, with more than half not previously reported. By integrating these findings with evidence from large-scale genetic studies and other biological data, they identified 21 proteins linked to 44 diseases, providing new insights into disease mechanisms and highlighting potential opportunities—and possible safety considerations—for future drug development.

Professor Maik Pietzner, Professor of Health Data Modelling at Queen Mary University of London and lead author of the study, said:

“This study shows that no single technology can capture the full complexity of the proteins circulating in our blood. By combining next-generation mass spectrometry with genetic analyses, we’ve uncovered biological insights that other approaches can miss, providing new opportunities to better understand disease mechanisms, identify promising drug targets and anticipate potential safety signals much earlier in the drug development process.”

The study also identified a previously unrecognised potential role for a protein called IGLV3-21 in Graves’ disease, an autoimmune condition affecting the thyroid, illustrating how combining genetic and protein data can generate new hypotheses about disease biology.

Professor David van Heel, Professor of Gastrointestinal Genetics at Queen Mary University of London and Co-Principal Investigator of Genes & Health, said:

“This research would not have been possible without the extraordinary commitment of the Genes & Health volunteers, who continue to make an invaluable contribution to improving our understanding of health and disease. We are incredibly grateful to everyone who has taken part, and to our clinical and academic collaborators who have helped build this unique research resource over many years. It is exciting to see discoveries emerging that have the potential to benefit people far beyond the communities who made this work possible.”

Professor Claudia Langenberg, Director of the Precision Healthcare University Research Institute (PHURI) at Queen Mary University of London, said:

“This study demonstrates the tremendous scientific value of the unique research resource established by our colleagues at Queen Mary through Genes & Health. Bringing together cutting-edge proteomics with such a richly characterised and historically underrepresented population allows us to generate discoveries that simply would not be possible otherwise. We are deeply grateful to the participants whose contribution is helping to advance precision medicine for the benefit of everyone.”

Genes & Health is one of the world’s largest community-based genetics studies involving British Bangladeshi and British Pakistani volunteers. By working closely with participating communities, the programme is helping researchers better understand why diseases develop and how treatments can be improved for everyone.

The researchers say the findings demonstrate the importance of using complementary technologies to build a more complete picture of human biology and reinforce the value of including diverse populations in genomic research.

The study was led by researchers from Queen Mary University of London in collaboration with colleagues at the Berlin Institute of Health at Charité, the Max Planck Institute for Molecular Genetics and other international partners. The authors also thanked the Genes & Health volunteers whose participation made the research possible.