CELL BIOLOGY AND DISEASE MECHANISMS
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
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.
My research aims to elucidate the roles of miRNAs in cell clearance and how their dysfunction may affect RPE/photoreceptor crosstalk. Our goal is to identify molecules that enhance clearance of retinal toxic aggregates to treat eye disorders.
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.
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.
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.
I joined TIGEM in 1994 and it has been the setting of my growth as a scientist: from a human geneticist identifying disease genes to my current functional and translational studies. I enjoy mentoring young students and witnessing them flourish, TIGEM is the ideal place for opportunities and a stimulating research environment.
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.
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.
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.
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.
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.
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
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.