Functional Genomics and Epigenetics. Coordinator: Perini

The group’s research regards the definition and characterization of the molecular and epigenetics mechanisms responsible for the arising and progression of paediatric cancer originating from neuronal cells such as Neuroblastoma, Medulloblastoma and Retinoblastoma.

Research themes

The lab has a long-standing experience in the Genetics of Cancer with a particular emphasis on the molecular and epigenetic mechanisms that characterize the arising and progression of childhood tumours such as neuroblastoma, medulloblastoma and retinoblastoma. Recently, the lab has started to focus on genetic disorders affecting skeletal and cardiac muscles, exploring the potential application of genome editing for the treatment of these conditions. Studies are conducted using numerous molecular technologies ranging from manipulation of nucleic acids in vitro (cloning of DNA in propagating and expression vectors) and genomes in vivo (CRISPR/CAS9), genome-wide analyses of transcriptomes (qRT-PCR and RNA-seq), analyses of DNA (methylome) and chromatin modifications ( Immuno-precipitation and ChIP seq) to the analyses of DNA and protein interactions both in vivo and vivo using assays such as Co-IP, PLA (Proximal Ligation Assay), BiFC (Bimolecular Fluorescence Complementation) GST Pull down and EMSA. Finally, studies employ both in vitro and in vivo models such as cell cultures derived from primary tumours, iPSCs derived from patients, and Drosophila melanogaster and Mus musculus as animal systems to model identified genetic mechanisms of the diseases.

Lab Members

Giovanni Perini, Full Professor

Francesco Chemello, Associate Professor

Nicola Facchinello,  Associate Professor

Roberto Bernardoni, Assistant Professor 

Giorgio Milazzo, Assistant Professor 

Suleman Khan Zadran, Research fellow

Marta Palombo, Research fellow

Martina Santulli, PhD student

Elisa Dell'Anna, PhD student

Leonardo Cimadom, PhD student

Lorenzo Scrofani, PhD student

Francesca Colli, Research fellow

Christian Santangeli, Research fellow

Job Openings or Internship Projects

  • Functional characterization of the MYCN/E2F3 complex in neuroblastoma and identification of chromatin-modifying factors controlling complex formation.
  • Functional characterization of the PRR12 gene and its implications in "Neuroocular syndrome".
  • Study and optimization of novel drug delivery methodologies in cancer.
  • Characterization of new HDAC complexes in tumors with MYCN oncogene amplification.
  • Application of genome editing technologies to correct mutations causing Duchenne muscular dystrophy.
  • Zebrafish as an experimental model for studying human diseases.

Main publications

  • Murray, J.E.*, Valli, E.*, Milazzo, G.*, … , Giovanni Perini, Michelle Haber & Murray D. Norris et al. The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. Nat Commun 15, 5585 (2024).  https://doi.org/10.1038/s41467-024-49871-0. *Co first authors.
  • Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N. Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment. Cell Death Dis. 2024 Apr 20;15(4):281. doi: 10.1038/s41419-024-06622-9
  • Chai AC*, Chemello F*, Li H, Nishiyama T, Chen K, Zhang Y, Sánchez-Ortiz E, Alomar A, Xu L, Liu N, Bassel-Duby R, Olson EN. Single-swap editing for the correction of common Duchenne muscular dystrophy mutations. Mol Ther Nucleic Acids 2023;32:522-535. *Co first authors.
  • Messelodi D, Strocchi S, Bertuccio SN, Baden P, Indio V, Giorgi FM, Taddia A, Serravalle S, Valente S, di Fonzo A, Frattini E, Bernardoni R, Pession A, Grifoni D, Deleidi M, Astolfi A, Pession A. (2023). Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation. Commun Biol. 2023 Apr 19;6(1):431. doi: 10.1038/s42003-023-04813-2. PMID: 37076591
  • Tao, L., Mohammad, M.A., Milazzo, G., … ,  Giovanni Perini, Cristian Coarfa & Eveline Barbieri et al. MYCN-driven fatty acid uptake is a metabolic vulnerability in neuroblastoma. Nat Commun 13, 3728 (2022).https://doi.org/10.1038/s41467-022-31331-2

Contacts