Research Theme: Phenotyping of murine mutant models of human disease
Keywords: mouse mutant, disease models, cerebellum, primary cilium, medulloblastoma
During my graduation thesis and PhD work I had the opportunity to learn the basics of cellular and molecular biology in mouse model systems, with particular attention to the early stages of embryonic development and transcription activation mechanisms. In the last decade, I have been working on the production and functional characterization of novel mouse mutant models of brain development and related disorders. In particular, I studied the role of Gpr37L1, an orphan G-protein coupled receptor, which specifically modulates cerebellar cell proliferation and differentiation, with an emphasis to the role of the primary cilium in the regulation of cell proliferation in physiological and pathological conditions. Recently I also had the opportunity to deepen my knowledge of confocal microscopy and analysis of images acquired with post-processing programs.
In addition, I have been participating in the histopathology screening pipelines of the International Mouse Phenotyping Consortium (IMPC; mousephenotype.org), the INFRAFRONTIER European Union’s Landmark Infrastructure (infrafrontier.eu) and related International Consortia (EUMORPHIA, EUMODIC, EUCOMM-EUCOMMTools, PHENOSCALE, etc.), for large-scale, integrated and standardized production, primary and specialized phenotyping, dissemination of mouse mutant strains as novel in vivo model of human diseases.
Photo selected for the exhibition “RiScattiamo la scienza” in the Ninetieth anniversary of CNR
http://novantennale.cnr.it/cat-bandi-concorsi/86-riscatta-la-scienza
Confocal microscopy image of cerebellar murine section
Education:
- 02/2005 PhD Degree in Biological Sciences University of Rome La Sapienza – Rome, Italy PhD
- 02/2001 Laurea Degree University of Rome La Sapienza – Rome, Italy M.S.
- 07/1993 Liceo Classico G. De Sanctis – Rome, Italy B.A. Umanities
Positions:
- Since July 2008: Research Scientist, Institute of Cell Biology (2008-2009), Institute of Cell Biology and Neurobiology (2009-2019), Institute of Biochemistry and Cell Biology (2019-present), CNR (National Research Council), Monterotondo (Rome), Italy.
- 2004-2008: Post-Doctoral Fellow, Institute of Cell Biology, CNR (National Research Council), Monterotondo (Rome), Italy.
- 20012004: PhD Istituto di Ricerche di Biologia Molecolare (IRBM) Pomezia (RM), Italy/ Sapienza University (Rome) Italy
- Chiara Di Pietro, Gina La Sala, Rafaele Matteoni, Daniela Marazziti, Glauco P. Tocchini-Valentini (2019) “Genetic ablation of Gpr37l1 delays tumor occurrence in Ptch1+/- mouse models of medulloblastoma” Experimental neurology 10.1016/j.expneurol.2018.11.004
- Di Pietro, C, Marazziti, D, La Sala, G, Abbaszadeh, Z, Golini, E, Matteoni, R, Tocchini-Valentini, GP (2017) “Primary cilia in the murine cerebellum and in mutant models of medulloblastoma“ Cell. Mol. Neurobiol. 2017 Jan; 37(1): 145-154. doi:10.1007/s10571-016-0354-3. Epub 2016 Mar2. PMID: 26935062
- Marazziti, D.*, Di Pietro C.*, Golini, E., Mandillo, S., La sala, G., Matteoni, R., Tocchini-Valentini, G.P. (2013) “Precocious cerebellum development and improbe motor functions in mice lacking the astrocyte cilium-, patched 1-associated Gpr37l1 receptor” Proc Natl Acad Sci 110(41):16486-91 (* contributed equally to the work)
- de Angelis, MH, Nicholson, G, Selloum, M, White, JK, (….) EUMODIC Consortium (… Di Pietro, C, …), Holmes, C, Steel, KP, Herault, Y, Gailus-Durner, V, Mallon, AM, Brown, SD (2015) “Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics” Nat. Genet. 2015 Sep;47(9):969-78. doi: 10.1038/ng.3360. Epub 2015 Jul 27
- Meehan T.F. et al. IMPC Consortium (Monterotondo Mouse Clinic,… Di Pietro, C., …) (2017) “Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium” Nature genetics (Print) doi: 10.1038/ng.3901
Publication page:
https://intranet.cnr.it/servizi/people/persona/persone/ https://orcid.org/0000-0002-2680-1821
Project member:
PRIN-MIUR 2017: Early dysfunctions of intercellular signalling in brain disorders (n. 20175C22WM)
2019-2022
It. National Research Council-Infrafrontier Network Infrastructure; Landmark Project of ESFRI Rodmap; Selected Project of It. Ministry of Research Roadmap for Research Infrastructures of Pan-European Interest and National Programme for Research Infrastructures
Since 2011 (on-going)
National Research Council-It. Ministry of Research, “Aging” Strategic Project 2012–2016, WP 1.8 “Transgenic Models of Brain Aging and Longevity”.
2012 – 2016
European Union Framework Programmes Projects (EUMORPHIA, EUMODIC, PHENOSCALE, EUCOMM, EUCOMMTools grants)