A New Proteo-Genomic Map Shows How Genes Connect To A Variety Of Diseases

Like the infamous Marauder’s Map in the Harry Potter novels, which revealed all the secrets of Hogwarts Castle, a recently published proteo-genomic map uncovers hundreds of novel connections between human diseases. An international team of researchers led by scientists at the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge compiled the data to create the map, and they detailed the results in Science in October 2021.

Their research builds on a long history of evolving biological understanding. For decades, biologists have known that proteins are essential to human health, performing many functions in our cells and maintaining the body’s tissues and organs. Proteins are made up of amino acids and are built based on DNA blueprints in our genes. When the human genome was mapped in 2003, scientists hoped they would find direct links between genes and disease. While several multiple genome-wide association studies (GWAS) have identified many thousands of variants in our DNA sequence that are associated with disease, the underlying mechanisms of disease have remained elusive because of challenges linking a genetic variation to a gene to a specific protein to a disease.