Studying the structure and function of cells in normal and disease conditions

Cell Biology and Disease Mechanisms

Researching rare genetic disorders with Cell Biology approaches allows us to understand the behaviour of individual diseased cells and unravel the mechanisms which arise from genetic defects.
The overall aim of the Cell Biology and Disease Mechanisms (CBDM) program is to understand disease mechanisms by looking at cellular organization at the morpho-functional level: how different cell types accomplish their individual tasks, how these different cells cooperate to form tissues and systems, and how mutations in disease genes may alter these functions.

The final objective is to provide improved management of genetic diseases and therapeutic tools. Techniques used in the CBDM program include, but are not limited to, genetic analysis, protein and lipid biochemistry, developmental biology, yeast cell biology, and molecular pharmacology. We use these techniques to study trafficking and sorting of proteins and lipids, organelle biogenesis and regulation, and signal transduction.

Coordinator: Antonella De Matteis

Lysosomal signaling in human diseases
Andrea Ballabio

While studying medicine I was fascinated by how research could lead to the discovery of disease mechanisms.  As a young pediatrician, I took care  of children affected by genetic diseases, some of them serious and still without therapy, I felt the urge to act, to do something to help, and I knew that the way to make a difference was to understand the biological mechanism. That’s how research became my passion.


Molecular Determinants of Viral Pathogenesis
Mirko Cortese

I’ve recently joined the TIGEM faculty and I have found awesome scientists, great infrastructure, and excellent support. I cannot wait to start this new exciting adventure.


Membrane Trafficking
Antonella De Matteis

My work has focused on the molecular mechanisms controlling intracellular membrane trafficking, a process that is crucial for the maintenance of cell organization, organelle homeostasis, and for intercellular communication. In recent years, our research has aimed to develop therapeutic strategies to cure inherited diseases.

Phone +3908119230620

Lysosomal signaling and metabolism
Chiara Di Malta

We intend to dissect how lysosomal dysfunction contributes to kidney cystogenesis and cancer in order to open up new therapeutic avenues for the treatment of these conditions. At TIGEM, we can pursue these goals supported by high-quality resources and facilities, in an international and extremely stimulating environment.


Cilia dysfunction and rare diseases
Brunella Franco

I joined TIGEM in 1994 and I scientifically grew within TIGEM. I started my career as a human geneticist and while I was originally involved in the identification of disease genes, I then shifted my scientific interest toward more functional studies. I want to understand how and why a disease affects specific individuals and tissues and possibly offer solutions. I also enjoy in witnessing and mentoring the flourishing of young researchers around me and TIGEM is the ideal place in terms of opportunities and research environment.


Pathophysiology of membrane channels and transporters
Luis Galietta

My research is dedicated to understanding the mechanisms underlying ion transport in epithelial cells. We use high-throughput screening techniques to identify drugs to treat cystic fibrosis by targeting membrane channels and pumps.


Molecular Mechanisms of Autophagy
Paolo Grumati

I have always been fascinated by the dynamics of cellular organelles: how they change shape, move inside the cell, and are constantly replaced. Gaps in understanding of the endoplasmic reticulum has led us to explore whether autophagy regulates ER turnover and if autophagy failure can cause severe human diseases.


High Content Screen Facility
Diego Medina

My research goal is to gain insight into the cell biology of the lysosomal and autophagic pathways, which can inform translational studies that will be instrumental in the development of new therapies to tackle rare genetic diseases.


Nutrient Signaling and Metabolic Diseases
Gennaro Napolitano

I study the basic signaling mechanisms controlling nutrient sensing and how dysfunction of these processes underlies disease conditions. Our ultimate goal is to leverage these findings for the discovery of novel therapeutic targets in inherited metabolic diseases and cancer.


Membrane sorting and biogenesis
Roman Polishchuk

I am a Cell Biologist by training and I believe that moving to the Rare Disease Field helped me to learn how cellular mechanisms adapt to pathological conditions and prompted me to investigate how these mechanisms might be targeted to help patients.


Organelle Homeostasis
Carmine Settembre

Exploiting TIGEM resources and expertise to address outstanding questions in the lysosome-autophagy pathway, to understand the mechanistic basis of toxic accumulations in the endoplasmic reticulum, and to offer novel therapies to genetic diseases.

Phone+39 08119230601

Molecular Mechanisms of inherited kidney diseases
Leopoldo Staiano

Being a scientist at TIGEM offers opportunities to work with state of art technologies in a stimulating environment and to come in close contact with the reason why we do this job: the patients.