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Dr Roberto Simone
Dr Roberto Simone profile picture
  • Senior Research Fellow
  • Department of Neuromuscular Diseases
  • UCL Queen Square Institute of Neurology
  • Faculty of Brain Sciences

Roberto graduated in 2003 in Biological Sciences at University La Sapienza in Rome where he spent 2 years during his MSc in the Molecular Biology lab of Prof Irene Bozzoni, focusing on the mechanisms of biogenesis of small nucleolar snoRNAs in yeast. 

During his 5 years PhD in Structural and Functional Genomics, at the International School for 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 laboratory of Dr 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 within neurons and other 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.

Dr Simone has made key contributions towards developing nanoCAGE and CAGEscan, NGS techniques that are now accepted as standard methods for transcriptome-wide studies of promoters from specific cell-types (Plessy C*, Bertin N*, Takahashi H*, Simone R* et al, Nat Methods, 2010; http://population-transcriptomics.org/nanoCAGE/). His work was part of a wide collaborative project aimed at characterizing the coding and non-coding transcriptome at RIKEN (FANTOM project), in different neuronal populations and gene families (Biagioli M. et al.PNAS 2009; Plessy C. et al.Genome Res 2012; Pascarella G. et al.Front Cell Neurosci 2014). More recently dr Simone has addressed RNA metabolism defects caused by repeat-expansion disorders (Simone et al.EMBO Mol Med 2018, Cortese, Simone et al.Nature Gen 2019), focusing on different aspects of the non-coding field, and more recently discovered a new regulatory role for a large family of retrotransposons.

He also peer-reviews for different scientific journals and for the Italian Ministry of Health research funding scheme. In his spare time he likes running, mountain biking and doing photography.

Research Groups
Research Themes
Research Summary

A common theme across all my research has been linking changes in gene regulation to the emergence of CNS pathology using a multidisciplinary approach ranging from genome-wide computational analyses to cellular modelling and molecular biology techniques to gene therapy in a pre-clinical model of disease. So far my major focus has been in three major areas: (1) tau biology and mechanisms of MAPT gene regulation; (2) identifying and characterising small-molecules binding to the RNA G-quadruplexes formed by C9orf72 hexanucleotide repeat expansion, as a therapeutic strategy for C9-ALS/FTLD; (3) discovery and characterisation of a novel pentanucleotide repeat expansion associated with late-onset ataxia (CANVAS syndrome).

My major interest is in the RNA metabolism and RNA-mediated gene regulation and I am especially fascinated by the role played by non-coding RNAs in the regulation of protein-coding genes in both normal cellular homeostasis and in neurological diseases. Vast majority of genetic variants associated to neurodegenerative diseases are within the non-coding part of our genome clearly suggesting that we presently capture only a small fraction of the players involved. The contribution of the non-coding RNAs to disease mechanisms remains so far largely unexplored. With this idea in mind, I am currently focused on the role played by natural antisense long ncRNAs (lncRNAs) in the regulation of intrinsically disordered proteins (IDP). Using both various cellular and animal models (including iPSC-neurons, stable mutant cell lines and htau mice) and different molecular techniques, I discovered how MAPT-AS1 lncRNA is able to control tau proteostasis as recently reported at the ADPD conference and here (https://www.alzforum.org/news/conference-coverage/location-conformation-decoration-tau-biology-dazzles-adpd). Together with Prof Rohan de Silva, we established several national and international collaborations over the years with many research groups with complementary expertise.

Roberto has achieved two Patents so far:

  • Patent WO2009/154303 Plessy C, Simone R, Carninci P, “Method of manufacturing a mixture of amplified double-stranded nucleic acids comprising unknown sequence”,  about the use of nanoCAGE to map transcription start sites in small biological samples, 2009
  • Patent EP3458587 –Simone R & de Silva R, “Means for modulating gene expression”, 2016
Teaching Summary

I have successfully trained and supervised several PhD students and technicians.

Since 2010, I have regularly supervised Neuroscience BSc, Neuroscience MSc and Clinical Neuroscience PhD projects. 

I am also involved with the Neuroscience module 13 teaching for Neuroscience, Physiology & Pharmacology (NPP) students at UCL Division of Bioscience, coordinated by Dr Ian Edwards.

Academic Background
2008   Doctor of Philosophy  
2003   Master of Science  
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