Functional Genomics and Epigenetics. Coordinator: Perini

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

Giorgio Milazzo, Associate Professor

Roberto Bernardoni, Assistant Professor 

Suleman Khan Zadran, Research fellow

Marta Palombo, Research fellow

Martina Santulli, PhD student

Elisa Dell'Anna, PhD student

Leonardo Cimadom, PhD student

Francesca Colli, PhD student 

Christian Santangeli, Research fellow

Stefania Salvatore, 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 (Giovanni Perini)
• Functional characterization of the PRR12 gene and its implications in "Neuroocular syndrome" (Giovanni Perini, Giorgio Milazzo)
• Study and optimization of novel drug delivery methodologies in cancer (Giovanni Perini)
• Dissection of CoREST epigenetic complexes in tumors with MYCN oncogene amplification (Giorgio Milazzo)
• Functional dissection of the HAT containing complex ATAC in neuroblastoma (Giovanni Perini, Giorgio Milazzo)
• Application of advanced genome editing technologies to correct genetic mutations of skeletal and cardiac muscle pathologies (Francesco Chemello)
• Cancer research using zebrafish models, with a focus on neuroblastoma and xenograft approaches (Nicola Facchinello, Giovanni Perini)
• Zebrafish-based models of genetic diseases: pathogenic mechanisms and novel therapeutic strategies (Nicola Facchinello)
• Study of the role of the nervous system in modulating innate immunity using the Drosophila model system (Giovanni Perini)

Main publications

• Zadran S.K., Facchinello N., De Rosa P., Saporetti R., Costantini P.E., Ulfo L., Nigro M., Petrosino A., Pappagallo L., Aloisi S., Milazzo G., Din Z.A., Rigamonti A., Flora L., Santulli M., Cimadom L., Zuccheri G., Zangoli M., Sante M.D., Giosia M.D., Maria F.D., Bernardoni R., Barbieri E., Calvaresi M., Danielli A., Perini G. Systematic Targeting of GD2-Positive Neuroblastoma Tumors With a Photooncolytic Phage Nanovector Platform. Advanced science 12, e15356 (2025). DOI: 10.1002/advs.202415356
• Aloisi S., Santulli M., Russo M., Zadran S.K., Rigamonti A., Chin D.H., Palombo M., Cimadom L., Scrofani L., Bernardoni R., Capranico G., Gryder B.E.*, Perini G.*, Milazzo G.* Non-canonical activating roles of RCoR2 sustain transcription in adrenergic neuroblastoma. Cell reports 44(7):115951 (2025). * Co-corresponding. DOI: 10.1016/j.celrep.2025.115951
• Murray*, J.E., Valli*, E., Milazzo*, G. ..., Perini G, Haber M. & Murray D. Norris. The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. Nat Commun 15, 5585 (2024).* Co first authors. DOI: 10.1038/s41467-024-49871-0
• 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 and disease  15:281 (2024). 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 32:522-535 (2023). * Co first authors