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Posts by Fernande Freyermuth, PhD


During my PhD training, my research was mainly focused on mechanisms involved the RNA processing alterations at the origin of cardiac defects of Myotonic Dystrophy patients. I am now interested in determining the RNA processing alterations occurring in Amyotrophic Lateral Sclerosis (ALS) patients with young onset and very rapid disease progression, carrying FUS mutations. I am using direct conversion of fibroblasts into neurons and genomic approaches to define a set of RNA alterations that delineate a disease-relevant RNA signature in FUS-ALS patient neurons. Then using this RNA profile as readout, I am investigating the therapeutic potential of diverse proteins and molecules on the reversion of this FUS mutations related RNA signature.

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