CV Emanuela Bottani

Emanuela Bottani is a university researcher and lecturer in pharmacology with over fifteen years of experience in the field of rare genetic diseases.

She holds a five-year degree in Industrial Biotechnology from the University of Milano-Bicocca (2006). Driven by a strong interest in understanding human disease mechanisms, she later pursued a second degree in Biology, specializing in pathophysiology, which she completed in 2012 at the same university.

From 2009 to 2013, she was enrolled as a research fellow at the Molecular Neurogenetics Unit of the Carlo Besta Neurological Institute in Milan, under the mentorship of Professor Massimo Zeviani, an internationally recognized neurologist and geneticist known for his groundbreaking work on mitochondrial diseases. During this time, she focused on the generation and characterization of preclinical models of mitochondrial disorders, contributing to the elucidation of disease mechanisms and the preclinical validation of both pharmacological and gene therapy approaches.

As part of her PhD in Molecular and Translational Medicine (awarded in 2015 by the University of Milano-Bicocca), she joined the MRC Mitochondrial Biology Unit at the University of Cambridge, where she spent over four years continuing her research under the leadership of Professor Zeviani, then Director of the Unit. Her work led to the discovery of the molecular basis of a previously uncharacterized mitochondrial neurodegenerative disease.
 
In 2017, she returned to Italy after being awarded two consecutive postdoctoral fellowships by the Umberto Veronesi Foundation. These awards enabled her to expand her research into mitochondrial bioenergetics under both physiological and pathological conditions, with a particular focus on the central nervous system and non-alcoholic fatty liver disease.

In 2019, she was appointed as a Junior Researcher at the University of Verona, where she established her own research group thanks to funding from the 2020 European Joint Program on Rare Diseases. The awarded project—worth over €2.4 million—led to the creation of the CureMILS European Consortium, which focuses on identifying pharmacological therapies for maternally inherited Leigh Syndrome. Within this international effort, she was selected as an Early Career Principal Investigator.

Since December 2024, she has held a tenure-track position at the University of Verona, where she leads a research group dedicated to developing novel therapeutic strategies for rare neurogenetic disorders, including Leigh Syndrome, Jamuar Syndrome, Allan-Herndon-Dudley Syndrome, and NUBPL-related mitochondrial disease. Her work focuses particularly on primary and secondary mitochondrial dysfunction, as well as the use of advanced preclinical models to investigate disease mechanisms and identify innovative therapeutic targets.

With the support of a FIS2 – Starting Grant from the Italian Ministry of University and Research—a prestigious program inspired by the ERC Starting Grant—she is now further expanding her research. The funded project (total budget: €1.32 million) will focus on the early mitochondrial dysfunctions associated with genetic neurodevelopmental disorders, aiming to shed light on pathogenesis and therapeutic intervention points.

She is the author of numerous scientific publications in international peer-reviewed journals, including Cell, Cell Metabolism, Molecular Cell, Nature Communications, Neurology and Pharmacological Research.

Her research is currently supported by competitive national and international grants and is part of a multidisciplinary network aimed at advancing translational science and developing new therapies for rare diseases.