MINNEAPOLIS/ST. PAUL (11/20/2025) — A research team co-led by the University of Minnesota Medical School was recently awarded a 6-year, $11.3 million Synergy grant from the European Research Council to identify and pursue new approaches for treating genetic disease.
Millions of people worldwide are affected by inherited genetic conditions. Approximately 11% of these are caused by premature termination codons (PTCs), which stop the normal process of protein synthesis too early, resulting in shortened, functionally impaired proteins. The research team will work to address the scientific challenge of treating PTCs.
“Loss of function of critical proteins due to PTCs can have devastating and potentially lethal consequences in numerous conditions, including epidermolysis bullosa, Fanconi anemia, and Hurler syndrome — conditions for which the University of Minnesota serves as a major treatment referral center,” said Mark Osborn, PhD, an associate professor at the University of Minnesota Medical School and M Health Fairview. “These diverse conditions can share a common feature: PTCs as genetic drivers of disease.”
The research team hypothesizes that identification and characterization of a small number of agents, including drugs and transfer RNA (tRNA) gene therapy candidates, capable of reading through PTCs and restoring protein production could be applied broadly to treat numerous genetic disorders caused by PTCs.
The planned research requires a unique combination of skills and expertise across diverse disciplines. Dr. Osborn, who specializes in gene and cell therapy, will work in synergy and collaboration with three co-investigators from the Institute of Microbiology and Biology Centre at the Czech Academy of Sciences in the Czech Republic (Drs. Leoš Shivaya Valášek and Julius Lukeš) and the Institute for Integrative Biology of the Cell at the Université Paris-Saclay in France (Dr. Olivier Namy). Each member is an expert in a different field, such as protist biology, tRNA biology, protein synthesis, disease pathology, gene therapy, and drug development.
The research team will first investigate how alternative genetic decoding works in single-celled organisms called protists. These unique organisms have evolved small tRNA molecules, which are essential for protein synthesis, that can read through PTCs. Additionally, they will identify and employ readthrough-inducing drugs (TRIDs) that could boost the potency and specificity of tRNAs. TRIDs and tRNA tools will then be tested in cells and in vivo experimental models of severe genetic diseases affecting children. By bypassing the PTC genetic misprints, these tools might help restore normal function of genes and proteins in cells.
701 European Research Council Synergy Grant applications were reviewed and this group was one 66 awardees from around the globe to receive funding to tackle some of the most challenging scientific questions across a broad range of fields.
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