Research Highlights

A path from genetics to therapeutics 

Published online 29 June 2018

A new genetic map links genes and proteins to disease.

Biplab Das

A team of scientists has created the first elaborate genetic map of human blood proteins that play vital roles in various biological processes such as cellular transport, growth, repair and defence against infection.

The Nature study1, which showcases how genetic variations can influence the functions and levels of various proteins, promises to improve the understanding of a wide range of diseases and pave the way for the discovery of new drugs.  

The international team that included researchers from Weill Cornell Medicine-Qatar successfully linked nearly 2000 genetic variations to almost 1500 proteins after measuring the levels of 3600 proteins in the blood of 3,300 individuals. 

Through DNA analysis, they identified specific regions of genomes that regulate the levels of these proteins.  

The genetic map can be used to identify what genes and proteins are involved in a specific disease pathway, such as unveiling specific pathways that lead to Crohn’s disease during trials. As well, the map was useful is testing how a drug might fare in clinical trials.

The researchers were able to identify new associations between proteins and disease. For example, MMP12, a protein previously associated with lung disease was found to be also related to heart disease. 

By drawing up a network of associated drugs, proteins, genes and diseases, the study can help reveal how a drug for a particular disease can potentially be used to treat a different disease.


  1. Sun, B. B. et al. Genomic atlas of the human plasma proteome. Nature (2018).