Largest blood protein genetics study reveals new precision medicine opportunities

Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of London's Precision Healthcare University Research Institute and Berlin Institute of Health (BIH) at Charité have led the world's largest study on the genetic regulation of blood proteins.

Large-scale genetic studies have been conducted for various diseases in the past two decades, with hundreds of thousands of participants involved. Although these studies revealed fundamental insights, their translation into tangible improvements for how we treat patients have been limited for various reasons, including a longstanding challenge in human genetics: identifying disease-causing genes, proteins and mechanisms underlying diseases.

Blood proteins offer a fundamental and dynamic view into human health and its many determinants. By studying the genetic regulation of blood proteins and linking this to knowledge on genetic disease causes, the authors identified new insights into how human physiology works and how such knowledge can inform drug development.

Professor Maik Pietzner, senior co-lead and Professor of Health Data Modeling at the BIH said: "There are two achievements I am particularly excited about as they open new avenues to close important gaps in research. Firstly, combining our genetic work with machine learning enabled us to better understand how human biology works, and secondly, provided evidence to help getting the right drug to the right patient."

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Queen Mary University of London

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