Genetic repair of POLG-related disease

Lay Abstract

This project will develop in vivo gene editing platform to repair the POLG-mutations as the first potentially curative treatment of POLG-related disease. To do so, prime and base editing technologies will be developed and optimized – revolutionary new geneediting tools – to efficiently repair mutations in the POLG gene. The aim is to deliver the first in vivo proof of concept of a disease modifying therapy that directly corrects the root cause of POLG-related disease.

Institution

UMCU, Utrecht, the Netherlands

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Principle Investigator

Dr. Sabine Fuchs

Sabine Fuchs is professor Metabolic Diseases and Innovative Therapies. She combines her clinical work as pediatrician in Metabolic Diseases with leading a research group in the Regenerative Medical Center Utrecht in the Hubrecht Institute.

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