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ERC Awards €2.5M to Team Studying Silent Mutations as Biomarkers

NEW YORK (GenomeWeb) – The European Research Council (ERC) has awarded a research team €2.5 million ($2.8 million) to study the evolution of silent mutations and their potential use in diagnostics and gene therapy.

So-called silent, or synonymous, mutations change the sequence of a gene but not the protein it encodes. Although previously thought to have no biological effect, new data suggest that silent mutations may be associated with disease states.

With the ERC funding, Laurence Hurst, director of the University of Bath's Milner Center for Evolution, aims to better understand how DNA sequences evolve at silent mutation sites and if that can be used as biomarkers, as well as to develop software that can identify disease-causing mutations.

He also hopes to identify regions in the genome where DNA can be safely inserted for gene therapy applications.

"We’ve found that mutations in the genes that previously were thought to be irrelevant could in fact very important in causing and hence diagnosing diseases, cancer included," Hurst said in a statement.

"Our aim is not simply to improve diagnostics, but to improve gene-based therapies, as well, by giving the patient an improved version of the gene," he added. "Knowing why silent mutations matter should enable us to make really good replacement genes."

Collaborating with Hurst are Grzegorz Kudla from the University of Edinburgh and Zsuzsanna Izsvak of the Max Delbruck Center for Molecular Medicine at the Helmholtz Society.