Today in the journal Nature Methods (doi:10.1038/nmeth.3289) the laboratory headed by ICREA researcher Patrick Aloy, at the Institute for Research in Biomedicine (IRB Barcelona) –based in the PCB– presents a computational tool that allows a greater understanding of the genetic causes of complex diseases such as cancer, Alzheimer's and diabetes.  

Scientists working in the Structural Bioinformatics and Network Biology Lab have included the more than 23,000 documented genetic mutations that affect the function of 2,000 proteins in an open-access web tool, and have positioned them on the map of known interactions between human proteins. dSysMap can be accessed free of charge at http://dsysmap.irbbarcelona.org , and scientists from around the world can add their data in an anonymous manner.

Developed entirely at IRB Barcelona, dSysMap (“Disease-mutations Systemic Mapping”)) provides molecular details about how mutations in certain proteins alter interactions with other proteins, thus affecting the correct funcion of cellular processes.

The tool has explained, for example, why mutations in a single protein can cause two distinct diseases or why mutations in different proteins can trigger the same condition. dSysMap includes information on 2,804 complex diseases.

“We place the mutations in a global context of biological processes, which we refer to as systems biology or network biology; by doing this, we provide a more complete view of the effects of known pathological mutations,” says Patrick Aloy, who describes dSysMap as “a hypothesis-generating system, which, in addition, provides mechanistic details at the molecular level in order to better understand complex diseases of genetic origin—which account for most diseases—such as cancer, Alzheimer’s and diabetes”.

The team has undertaken this project with funding from the EU’s 7th Framework Programme and from a Consolidator Grant awarded to Aloy by the European Research Council.