Tracing Genetic Mechanisms Underlying Human Disease

In collaboration with one of the world’s leading Translational Biology teams, based at Biogen US, Optima’s Chief Data Scientist Dr Chris Foley’s research into the heritability of human disease now features in Nature, the world’s leading multidisciplinary science journal. Along with lead authors Dr Benjamin Sun and Dr Heiko Runz, Dr Foley is contributing to an international effort to build a deeper understanding on the role of genetic factors and proteins in disease risk. Read on to learn more about tracing genetic mechanisms which are underlying human disease.

Dr Foley said, “The whole team is very excited to see this paper being published. It is a milestone – but the work goes on.” Foley said the publication demonstrates the role protein-coding variants play in genetic disease. Through analysing biobank data from more than one population, the team was able to hone in on some rare and complex genetic markers for diseases and see more clearly the role proteins play.

“We show in our work the role that genetic mechanisms play across many diseases, ranging from cardiovascular disease to cancer. By doing so, we can better understand the causal link between genes and disease, potentially informing our understanding of how drugs reduce disease risk.”

Dr Foley said that down the line this work would help scientists to make, test and target novel therapies and better monitor drugs for genetic conditions. “The links between genetic variation and disease such as breast cancer have been studied for many years. But there are a lot of genetic variants which contribute to disease that have not yet been identified. Some of these variants are very rare in Britain and that makes it much harder to spot them within our existing biobank, hence our work on integrating data from multiple international biobanks has particular importance.”

Optima’s CEO Alan Crawley said: “This is original, cutting-edge research of international importance. Over the last year, we have seen several very impressive publications from our data science team. We are proud to be working so closely with a company like Biogen, one of the world’s leading biotechnology companies.”

Link to the full article here – Genetic associations of protein-coding variants in human disease | Nature