Fernande Freyermuth, PhD
During my Ph.D. 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.