Ion channels and channelopathies

My research activity is performed within the Section of Pharmacology of the Department of Pharmacy-Drug Sciences at the University of Bari "Aldo Moro". My research group is interested to unravel the mechanisms of rare genetic diseases caused by mutations in genes encoding for ion channels (channelopaties) to understand correlations with clinical symptoms and to find new treatment options.

The research is focused on diseases with a disturbed excitability of the brain, skeletal muscle and heart including:

episodic ataxias, neurodevelopmental disorders and epilepsy caused by mutations in brain channels such as Kv1.1, Kv1.2, Kir4.1/Kir5.1 and Cav2.1;
myotonia caused by mutations in skeletal muscle Nav1.4 and ClC-1 channels;
Brugada syndrome, caused by mutations in cardiac Nav1.5 channels.

I am also interested in studying kidney rare tubulopathies such as Bartter syndrome which is caused by mutations in ClC-K channels.

The main goals of my research are:

to discover specific disease-causing genetic defects and risk factors
to functionally characterize genetic defects to understand their molecular and cellular mechanisms
to improve existing or develop new therapies

Disease mechanisms are examined in detail using molecular biology, patch clamp electrophysiology, confocal microscopy and in silico techniques by studying the defects of disease-causing mutations and their consequences on protein biophysics, membrane expression and interacting proteins. Preclinical approaches to develop personalised therapies include pharmacogenetics, drug repurposing, HTS and chemical synthesis. Heterologous expression systems and patients' cells are used as disease models.

This research is performed in collaboration with other members of the Section of Pharmacology. Research collaborations also include clinicians at IRCCS Besta-Milano, Ospedale Policlinico-Milano, IRCCS Bambino Gesù-Roma, Ospedale Sant’Anna-Ferrara, IRCCS Gaslini-Genova, Ospedale Policlinico-Bari, medicinal chemists and computational chemists at the Department of Pharmacy - Drug Sciences of the University of Bari and patients associations.