Human genomic diversity and infection: from immunogenetics to personalized health

Genomic knowledge is about to profoundly change medicine, by making it more precise and personal. At the crossroad between basic science and the clinical world, my research group’s ambition is to contribute to this exciting transformation. We use genomic and bioinformatic approaches to identify and characterize genome variants that can explain the inter-individual differences observed in response to infections.
My seminar will be split in 3 chapters, illustrating the main strategies applicable to host genetic research: (A) genotyping studies, relying on SNP arrays and association analyses to interrogate common genetic variation: I will briefly tell the story of a decade of HIV host genetic studies, including the recent discovery of an African-only variant that regulates HIV control; (B) sequencing studies, allowing a comprehensive description of rare variation: I will explain how we identified a genetic cause of severe respiratory infections in previously healthy children; and (C) integrative studies, requiring a more holistic approach that includes multiple other data sources and innovative analytic strategies: here, I will describe how genetic variants influence chronic immune activation by modulating our response to persistent infections, with implications for many complex human diseases.
Much work is still needed to get a comprehensive understanding of the interactions between genomic variation and human health. We will continue to explore the genetic underpinning of infectious diseases, with the ultimate goal of translating novel genomic discoveries into clinically useful tests and therapies.