Through collaboration with Finnish pharmaceutical company, Orion Pharma, NIHR Leicester BRC researchers have secured additional funding to widen the use of their powerful tech tool DeepPheWAS to improve our understanding of the genetic basis of health conditions in diverse populations.
The new funding will allow Dr Richard Packer and his team to develop DeepPheWAS for the one million participant American study, All of Us.
The journey began in 2019 when Dr Richard Packer, an Academic Clinical Lecturer and Registrar in Public Health Medicine at the University of Leicester, was awarded a Clinical Fellowship with £278,000 in funding from Orion.
The PhD focused on advancing methods for Phenome Wide Association Studies (PheWAS), which aim to explore the comprehensive effects of genetic variations—how a single genetic change can influence multiple, seemingly unrelated diseases, such as heart failure or bladder cancer. This area of research has important implications for drug repurposing, prediction of side-effects, and understanding of disease causes.
Dr Packer and the team also used DeepPheWAS to study an important type of pain, termed neuropathic pain, where there have been very few previous genetic studies.
Richard explained: “Neuropathic, or nerve pain occurs when there is damage to the nerves due to disease or injury. Neuropathic pain is notoriously under-researched, and Orion recognized the value of this work.
“After developing the DeepPheWAS software package, we used it to study large numbers of diseases in the 500,000 participant UK Biobank.”
DeepPheWAS has not only revolutionised the study of genetic variations in pain but has since been integrated into Orion’s research and development pipeline, playing a central role in most of their projects. The tool has now supported completed and ongoing research projects in many different disease areas.
Dr Packer reflects: “The integration of DeepPheWAS by Orion and their continual investment in its development highlights the expertise we bring to the table.”
The collaborative research grew, most recently with an extension to March 2026 to develop DeepPheWAS for the American cohort study, All of Us, bringing the total investment to £1.46 million.
The use of DeepPheWAS in the diverse one-million participant All of Us project and in other biobanks will enable even more impactful studies, offering fresh insights into genetic determinants of disease and advancing drug development in different populations.
“Looking ahead, I plan to continue applying my expertise in genetic epidemiology to pain research and secure independent fellowships. I believe DeepPheWAS will continue to play a crucial role in future studies, providing greater control over phenotype development and enabling innovative ways to test genetic risk scores,” Dr Packer added.
BRC Manager, Dr Aarti Parmar added: “This ongoing partnership is a perfect example of how academic research in Leicester is driving real-world applications in the pharmaceutical industry around the world, with a lasting impact on our understanding of human disease and the development of more effective treatments.”
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