European scientists have identified two new genes connected with hereditary renal diseases with a new way of studying networks of proteins, combining systems biology and biochemistry. This study moves forward gene research by taking this innovative network approach. Moreover, this method could also be used to find genes for more common diseases such as diabetes or obesity.

A European team of scientists from the SYSCILIA project, funded in part by the Seventh Framework Programme (FP7), has identified two new genes connected with hereditary renal diseases. This genes have been identified throughout a new way of studying networks of proteins, combining systems biology and biochemistry.

The team of scientists studied 850 proteins likely to be involved in 3 genetic ciliary diseases: nephronophthisis, Joubert syndrome and Meckel-Gruber syndrome. They mapped how these proteins interact to predict which of them play a crucial role in the diseases, something which led to the double gene discovery. This method offers families with orphan diseases and their physicians help to diagnose and understand the natural course of the disease. Moreover, this method could also be used to find genes for more common diseases such as diabetes or obesity.

This study moves forward gene research. In this context the Commission promotes joint actions which help patients and professionals share information and expertise across borders. Specific measures on improving visibility of rare diseases, supporting national action plans, strengthening European level coordination and cooperation and encouraging more research have been adopted by the Commission. Additionally, the Commission has also established an EU Committee of Experts on Rare Diseases (EUCERD) which met for the first time on December 2010.