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. More 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  

Roberto Bernardoni, Assistant Professor 

Giorgio Milazzo,  Senior Assistant Professor 

Francesco Chemello, Associate Professor

Alberto Rigamonti, PhD Student

Sara Aloisi, PhD Student

Suleman Khan Zadran, Research Fellow

Martina Santulli, PhD Student

Elisa Dell'Anna, PhD Student

Leonardo Cimadom, PhD Student

Internship Projects

  1. Structural and functional characterization of the MYCN/E2F3 complex in neuroblastoma and identification of chromatin modifiers that control the complex formation
  2. Functional characterization of the PRDM12 gene in Colon carcinoma
  3. New drug delivery methodologies in cancer
  4. In-depth dissection of novel HDAC containing complexes in neuroblastoma
  5. Genome editing for the correction of Duchenne muscular dystrophy-causing mutations.

Main publications

Wong M, Tee AEL, Milazzo G, Bell JL, Poulos RC, Atmadibrata B, Sun Y, Jing D, Ho N, Ling D, Liu PY, Zhang XD, Hüttelmaier S, Wong JWH, Wang J, Polly P, Perini G, Scarlett CJ, Liu T. The Histone Methyltransferase DOT1L Promotes Neuroblastoma by Regulating Gene Transcription. Cancer Res. 2017 May 1;77(9):2522-2533. doi: 10.1158/0008-5472.

Perini G, Milazzo G, Narayan N, Ekert PG. Letting the breaks off MYCN. Cell Death Differ. 2016 Dec;23(12):1904-1905. doi: 10.1038/cdd.2016.112.

Giordani G, Barraco M, Giangrande A, Martinelli G, Guadagnuolo V, Simonetti G, Perini G, Bernardoni R. The human Smoothened inhibitor PF-04449913 induces exit from quiescence and loss of multipotent Drosophila hematopoietic progenitor cells. Oncotarget. 2016 Aug 23;7(34):55313-55327. doi: 10.18632/oncotarget.10879

Amente S, Milazzo G, Sorrentino MC, Ambrosio S, Di Palo G, Lania L, Perini G, Majello B. Lysine-specific demethylase (LSD1/KDM1A) and MYCN cooperatively repress tumor suppressor genes in neuroblastoma. Oncotarget. 2015 Jun 10;6(16):14572-83

Liu PY, Erriquez D, Marshall GM, Tee AE, Polly P, Wong M, Liu B, Bell JL, Zhang XD, Milazzo G, Cheung BB, Fox A, Swarbrick A, Hüttelmaier S, Kavallaris M, Perini G, Mattick JS, Dinger ME, Liu T. Effects of a novel long noncoding RNA, lncUSMycN, on N-Myc expression and neuroblastoma progression. J Natl Cancer Inst. 2014 Jun 6;106(7). doi: 10.1093/jnci/dju113

Contacts