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个人简介
Roberto has an MSc in Biological Sciences from the University La Sapienza of Rome, where he spent 2 years in the molecular biology lab of Prof Irene Bozzoni, focusing on the biogenesis of small nucleolar RNAs (snoRNAs) in yeast and the core snoRNP proteins.
During his 5 years PhD in Structural and Functional Genomics, at the International School of Advanced Studies in Trieste in Prof Gustincich’s lab, he characterised a mouse model of Parkinson’s disease applying a single-cell transcriptomic approach (nanoCAGE) that he developed in the lab of Piero Carninci in Tokyo. Since he moved to UCL he has been focusing on various neurodegenerative conditions (tauopathies, ALS, and more recently late-onset ataxia), mainly from the point of view of RNA biology. A common theme of his research is to characterise functional roles and regulatory dynamics of different ribonucleoprotein (RNP) complexes, long non-coding RNAs and retrotransposons within neurons and other brain cell types.
He likes to define himself as a curious molecular biologist with a keen broad interest in neuroscience and a firm believer that technological developments combined with novel computational approaches drive modern science.
His current research projects focus on studying complex multilayered gene regulatory mechanisms, with particular emphasis on genes involved in neuronal biology and neurodegeneration using a multidisciplinary approach with the ultimate aim of interrogating molecular phenotypes in vivo and translating findings into new therapies, with a particularly emphasis on the molecular landscape of tauopathies. He uses stable cell lines, iPS-derived cortical and motor neurons and transgenic mice, to apply a multitude of different techniques, both low and high-throughput, from genome-wide transcriptome and translatome profiling to targeted validation using viral vectors transduction, reporter assays, qRT-PCR, WB, in situ hybridization, high-content imaging and computational analyses to uncover novel mechanisms of gene regulation and address their deregulation in disease. His research aims at unveiling the biological roles of the noncoding part of our genome, the so called "junk DNA" and explaining how genetic variation in noncoding transcripts or regulatory elements contribute to normal neuronal physiology and neurodegenerative phenotypes. A major focus in the lab has been towards dissecting functions of long non-coding RNAs and more generally understanding noncoding functional genomics in the context of neuronal biology.
During my doctoral thesis at ISAS in Trieste and RIKEN in Tokyo, I developed and implemented a novel technology (nanoCAGE; http://population-transcriptomics.org/nanoCAGE/) (142 citations: Plessy C*, Bertin N*, Takahashi H*, Simone R* et al, Nat Methods, 2010); for transcription start sites profiling from small subpopulations of neurons. At UCL, my research focused on the mechanistic and translational aspects of various neurodegenerative conditions with three main projects developed so far:
(1) Characterizing the role of RNA G-quadruplexes formed by transcription of hexanucleotide repeat expansions of C9orf72 in iPS-neurons. Screening and characterization of small-molecule inhibitors of RNA foci and RAN translation in C9orf72-ALS/FTD models (Simone et al. EMBO Mol Med 2018, Simone et al. FEBS Letters 2015)
(2) Genetic discovery and functional characterization of a novel intronic pentanucleotide-repeat expansion in RFC1 as a common cause of late-onset cerebellar ataxia (110 citations: Cortese, Simone et al. Nature Gen 2019)
(3) Discovery, mechanistic characterization and therapeutic exploitation of a novel antisense lncRNA targeting the human tau gene (https://www.alzforum.org/news/conference-coverage/location-conformation-decoration-tau-biology-dazzles-adpd)
研究兴趣
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Neurologyno. 5 (2022): e543-e554
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Roberto Simone, Faiza Javad,Warren Emmett,Oscar G. Wilkins, Filipa Lourenço Almeida, Natalia Barahona-Torres,Justyna Zareba-Paslawska, Mazdak Ehteramyan,Paola Zuccotti,Angelika Modelska,Kavitha Siva,Gurvir S. Virdi,
Andrea Cortese,Roberto Simone,Roisin Sullivan, Jana Vandrovcova,Huma Tariq,Wai Yan Yau,Jack Humphrey,Zane Jaunmuktane,Prasanth Sivakumar,James Polke,Muhammad Ilyas, Eloise Tribollet,
A. Cortese,R. Simone,R. Sullivan, J. Vandrovcova,H. Tariq, Way Y. Yan,J. Humphrey,Z. Jaunmuktane,P. Sivakumar, M. Lyas,J. Polke, E. Tribollet,
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