TIGEM Research Faculty
Our goal is to develop novel in vivo gene therapy and genome editing strategies for a wide range of inherited blindness and metabolic diseases.
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 goals are to elucidate the molecular basis of inherited disorders, and particularly of neurodegenerative conditions. I am now particularly interested in gaining insight into the contribution of noncoding RNAs to pathophysiological processes.
As a paediatrician and geneticist, the overall goals of my research are to understand how defects in biochemical pathways result in disease and to develop novel therapeutic approaches for inborn errors of metabolism.
My research uses integrated genomics approaches to study stem cell biology and identify the mechanisms controlling cell decisions. I recently had the chance to develop an NGS-based project on COVID-19, for which we successfully analyzed thousands of SARS-CoV-2 genomic variants and patients’ transcriptomic profiles.
Phone: +39 08119230646
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.
Elvira De Leonibus
My group aims to identify early behavioural and disease mechanisms in animal models of complex human disorders, with the ultimate goal of discovering and testing novel therapeutic strategies to manage them.
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.
Diego di Bernardo
I am a Biomedical Engineer by training and I believe that cross-disciplinary research blending Engineering with Molecular and Cell Biology will greatly advance our understanding of rare and complex diseases and how to treat them.
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.
Computational machine learning combined with human decision making, I believe, is the road we have to pursue for effective and individualized treatment.
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.
The overall goal of my research is to find effective treatments for defective mitochondrial functions. In particular we aim to develop mutation-independent strategies to treat rare and common mitochondrial-associated disorders.
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.
Without the Telethon Institute of Genetics and Medicine, more advanced research on genetic diseases in Italy would be much more difficult and almost daunting.
Interacting with patients gives me strong and enduring motivation to perform research at TIGEM, with the aim to identify novel therapeutic opportunities and alleviate the impact of diseases on patients’ lives.
My research focuses on dissecting the molecular pathways underlying the pathology of liver disease associated with genetic disorders by combining 3D models and in vivo studies. TIGEM offers unique expertise and excellent resources to pursue my goal.
Phone: +39 08119230630
Understanding and treating rare genetic diseases is a wonderful journey and an extraordinary creative adventure that teaches us a lot about human life and health.
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
Nicolina Cristina Sorrentino
My research goal is to understand the mechanism of the neuropathology progression and develop advanced gene therapy and drug therapy protocols for the treatment of inherited neurodegenerative disorders
Phone: +39 08119230649
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.
Having the possibility to help people, by finding solutions to diseases which are still untreatable, motivates me incredibly and makes me feel that my efforts are focused in a positive direction.