Cilia and Human Diseases
Cilia are evolutionary conserved organelles protruding from mammalian cells and exert motility and sensory function. Cilia have crucial roles in cell signalling pathways and in maintaining cellular homeostasis. Thousands of proteins potentially involved in ciliary function have been identified. However, much remains to be determined on the biology and functions of this complex organelle of growing biomedical importance.
Our laboratory aims at addressing the following questions:
- Which is the link between ciliary proteins and autophagy and what is the role of autophagy in the pathogenesis of cilia associated phenotypes ?
- Why mutations in the same transcript can cause phenotypes ranging from the involvement of single tissues to a wide spectrum developmental disorder such as OFD type I syndrome ?
- Do cilia have a role in oncogenetic events?
Mitochondria and mitochondrial disorders
Mitochondrial dysfunction underlies the pathogenesis of rare and common conditions. Our laboratory focuses on different aspects of mitochondria biology and mitochondrial disorders. In particular, on the basis of our previous work on rare mitochondrial diseases we apply in vivo and in vitro approaches and examine the following topics:
- Study the mechanisms underlying the neuroprotective effect of miRNA181a and miRNA 181b downregulation in mitochondria-mediated neurodegeneration (e.g. Leigh and LHON syndromes)
- Dissection of a novel mitochondrial caspase mediated cell death pathway implicated in human diseases
- Definition of the pathogenetic mechanisms underlying microphtalmia with linear skin lesions (MLS) syndrome
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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.
Additional Funding
- AIRC - The primary cilium as a therapeutic target in bile duct cancer (2023-2024)
- Modulazione dei miR181a/b come approccio terapeutico a malattie neurodegenerative associate a disfunzione mitocondriale (2021-2022), Banca d'Italia
- Therapeutic efficacy of miR-181a/b down regulation in Leigh syndrome (2020-2021), United Mitochondrial Disease Foundation