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The beginnings of CDKL5
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iPS Disease Modeling and Drug Development in CDKL5

Dr. Muotri will attend the IFCR Science Symposium to be held in the Chicago, IL, area in June. He has ... Learn More

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Researcher Spotlight


CLAUDIA FUCHS, PhD

I am currently a Postdoctoral Researcher in Prof. Elisabetta Ciani’s laboratory at the Department of Biomedical and NeuroMotor Sciences at the University of Bologna (Italy).

I obtained my Master’s Degree in Biology at the University of Bologna in 2009. My research project was aimed at identifying the mechanisms underlying brain developmental alterations in Down syndrome, a genetic disease characterized by severe intellectual disability. During this experience I developed expertise in the field of neuroscience and I became very interested in the pathophysiological processes related to neurodevelopmental disorders.

I started working on CDKL5 disorder during my PhD at the Department of Biomedical and NeuroMotor Sciences at the University of Bologna. At that time Prof. Elisabetta Ciani, my PhD supervisor, was prompted by a newly-formed CDKL5 Italian Association to offer her expertise as a neuroscientist and initiate a research project focused on developing therapies for CDKL5 disorder. Since I was interested in this neurodevelopmental disorder, I decided to aim my PhD project at characterizing the effect of CDKL5 loss-of-function on brain development, taking advantage of a newly-generated Cdkl5 knockout mouse model. At that time, very little was known as to the role of CDKL5 on brain development; in fact, the limited understanding of the function of CDKL5 and its associated signal pathways has hindered the development of therapeutic approaches. We discovered that CDKL5 plays an important role in postnatal brain development, affecting neuronal maturation, neuronal survival and neuronal plasticity. Looking at the molecular mechanisms underlying these neurodevelopmental alterations, we found a deregulation of the AKT/GSK3β pathway in the Cdkl5 knockout mouse model. The AKT/GSK3β pathway and its downstream targets are key factors in several neuronal functions. These results are an important step toward the development of targeted therapeutic strategies to improve the neurological phenotype of the CDKL5 disorder.

At the moment, my research project is aimed at exploring the effects of clinically approved drugs, targeted at restoring the deregulated AKT/GSK3β pathway, on the neurodevelopmental alterations in the mouse model of CDKL5 disorder. If our study should provide promising results, this will allow a fairly rapid transition to clinical trials in patients.

I am personally in contact with several CDKL5 families. For me, the most rewarding aspect of conducting this research is the chance to develop a therapy that could change the lives of these patients and their families. Carrying out research in this field is not merely work, and not only a scientific interest; the contact with the families, the emotional implications and the hope that “my work could change something” are all aspects that make it so much more than a simple job.

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