I am a postdoctoral research associate working in Rita Horvath’s group. My research interests are about Reversible Infantile Respiratory Chain Deficiency (RIRCD) and the abnormal mRNA metabolism in neurodegenerative diseases.
My interest in these specific topics comes from my previous research experiences in Italy and Canada in the fields of neurological and neuromuscular diseases, as well as in the field of oxidative stress related disorders.
Research Project: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases.
Principal Investigators: Prof Rita Horvath
My project will focus on studying the molecular mechanisms in severe infantile diseases with combined respiratory chain deficiency, with special focus on RIRCD.
The first part of the project will investigate why patients with infantile RIRCD show an isolated muscle involvement, why symptoms start uniformly in the first weeks of life and what are the molecular basis of spontaneous recovery, aimed to better understand mechanisms in mitochondrial translation and regulatory mechanisms. The long-term goal would be to up-regulate or boost compensatory factors in patients with mitochondrial disease with the aim to open new avenues for therapy.
The second part of the project will investigate the role of abnormal mRNA metabolism in neurodegenerative diseases. This will be performed through the use of zebrafish, an animal model which has become a very useful tool for studying human neurodevelopmental and neurodegenerative disorders as well as mitochondrial diseases. This project might lead to understand new roles of different parts of the mRNA degradation pathway in the pathogenesis of important human neural diseases such as pontocerebellar hypoplasia.
Sponsor/funder: European Research Council