Principal Investigator
Other positions:
Professor of Medical Genetics, Department of Translational Medicine, University of Naples "Federico II", Italy
Brunella Franco obtained a Degree in Medicine and Surgery from the University of Naples “Federico II” before completing a residency in Pediatrics at the Gaslini Institute and the University of Genoa. In 1989, she moved to the Department of Human and Molecular Genetics of the Baylor College of Medicine, Houston TX for postdoctoral training in Human Genetics. During this training, her research interest was mainly focused on disease gene identification. In 1995, she returned to Italy thanks to the Italian Telethon Foundation and was one of the founding members of the Telethon Institute of Genetics and Medicine (TIGEM) in Milan, Italy. She then followed the Institute in its move first to Naples and then to Pozzuoli where she coordinates a research group focused on understanding the molecular basis of selected rare inherited diseases. Brunella Franco is a human geneticist with a well-established reputation in the study of rare inherited conditions. Her efforts have contributed to the identification of fourteen transcripts responsible for genetic disorders. In recent years, her laboratory has focused on translating her laboratory research to clinical settings, to fulfill patient needs.
Cilia and Human Diseases
Cilia are evolutionary conserved organelles that protrude 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:
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Which is the link between ciliary proteins and autophagy and what is the role of autophagy in the pathogenesis of cilia-associated phenotypes
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Why mutations in the same ciliary transcript can cause diverse phenotypes ranging from disruption of a single tissue to wide spectrum developmental disorders such as OFD type I syndrome.
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 to examine the following topics:
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Study the mechanisms underlying the neuroprotective effect of miRNA181a and miRNA 181b downregulation in mitochondria-mediated neurodegeneration (e.g. Leigh and LHON syndromes)
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Dissection of a novel mitochondrial caspase mediated cell death pathway implicated in human diseases
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Definition of the pathogenetic mechanisms underlying microphtalmia with linear skin lesions (MLS) syndrome