From mechanism to cure: AI-driven discovery of therapies for genetic disorders

This PhD project aims to revolutionize how we approach the treatment of genetic diseases by integrating artificial intelligence (AI) with a deep understanding of biological mechanisms. Genetic disorders arise from mutations that disrupt critical molecular processes, leading to disease. However, identifying effective treatments requires more than just finding a mutation—it demands an understanding of the underlying mechanisms that drive the disease.

In this project, you will integrate state-of-the-art computational approaches in variant effect prediction, protein structure prediction, evolutionary analyses and population genomics to explore the likely molecular mechanisms associated with different human disease genes, and classify them based on potential therapeutic strategies. You will focus on leveraging AI to identify compounds or therapeutic strategies that can correct or mitigate the molecular consequences of these mutations, focusing in particular on alleles predicted to have dominant-negative or gain-of-function effects.

This interdisciplinary project will provide opportunities to collaborate with experimental and clinical researchers, ensuring that predictions made in silico are validated in the lab. By the end of this PhD, you will have contributed to the discovery of mechanism-based therapies for genetic disorders, positioning you at the forefront of AI-driven biomedical research.