Project

Host genetic studies seek to explain why individuals respond differently to infections. In recent years, major advances in genetic knowledge, bioinformatics and sequencing technology have transformed the field and allowed comprehensive studies of the human genome. This project proposes to use state-of-the-art genomic tools to look for genetic factors that predispose to severe viral respiratory infections in otherwise healthy children.

Although infections by respiratory viruses are usually mild and self-limited, severe symptoms develop in a small minority of children. This project postulates that rare mutations present in the genetic code of the patients are responsible for the most severe clinical presentations. Study participants will be recruited in Swiss pediatric intensive care units. During the course of the project, their genetic material (DNA and RNA) will be analyzed to obtain a complete genomic profile combining genome-wide genotyping, exome sequencing and RNA sequencing. Bioinformatic tools will be developed to handle very large amounts of data, to integrate the different layers of genomic information, and to identify the genetic factors that are likely to play a role in the severity of the disease.

The identification of genetic alterations conferring unusual susceptibility to respiratory infections has the potential to shed new light on the interactions between humans and viruses, and on the disease process. Consequently, the findings of this program could help develop novel diagnostic tools, preventive strategies and therapeutic interventions, and ultimately contribute to personalized medicine.