Seminario Understanding the Molecular Basis of Hereditary Disease in the Age of AI

Hereditary diseases are often caused by genetic variants that alter the function of key proteins. Understanding the functional impact of these variants is therefore a central challenge in human genetics and essential for explaining the molecular basis of many inherited disorders.

In this talk I will present our work on AI-based models designed to predict the functional consequences of genetic variation. By integrating evolutionary, structural, and biochemical information, these approaches help address a problem that is difficult to resolve through experimental or manual analysis alone and are becoming increasingly important for interpreting human genomic variation.

I will also briefly reflect on how generative AI tools are beginning to support the research process itself, acting as an always-available collaborator that helps explore complex questions and accelerate scientific reasoning