Deep mutational scanning of rare disease proteins · IBV-CSIC, València, Spain
This project has received funding from the European Research Council (ERC) under the European Union's Horizon Europe research and innovation programme.
ABOUT THE PROJECTrareDMS, funded by an ERC Starting Grant, aims to understand the molecular mechanisms of clinical variants in rare disease proteins at scale. In previous work (Nature 2025) we found that about half of disease-causing missense mutations in protein domains act via destabilization, indicating a common mechanism accounts for a large share of genetic disease. rareDMS moves from isolated domains to complete, multi-domain full-length proteins. Combining deep mutational scanning (DMS), high-throughput functional assays in human cells and quantitative modelling, we will map the effects of every possible variant in a large set of rare disease proteins to work out their molecular mechanisms, and use this understanding to improve variant interpretation and guide therapeutic strategies.
We are seeking two highly motivated team members to join this 5-year project at the Institut de Biomedicina de València (IBV-CSIC), in the Mutational Scanning Unit led by Dr. Antoni Beltran.
OPEN POSITIONS1. Postdoctoral Researcher – Deep Mutational Scanning of Rare Disease ProteinsRole: Lead the design, execution and analysis of deep mutational scanning experiments on full-length rare disease proteins, to uncover the molecular mechanisms of clinical variants. Experimental and computational applicants will be considered.
Essential qualifications
• Ph.D. in Biochemistry, Molecular Biology, Genetics, Biophysics, Computational Biology or a related field
• A strong publication record
Desirable qualifications
• Experience in high-throughput screening / DMS / MAVEs, protein biochemistry, and/or machine learning.
2. Lab Technician / Lab ManagerRole: Support the lab's day-to-day operations and the experimental
📌 Postdoctoral researcher and Lab Manager positions (España)
🏢 Instituto de Biomedicina de Valencia
📍 España
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