Filomena Pirozzi, PhD

Filomena Pirozzi, PhD

Children's Title: Research Scientist III

Research Center: Center for Integrative Brain Research

  • I learned what Genetics was at a young age because my family was struggling to get a diagnose for one of my close relatives. I wanted to directly understand why it was so complicated to get a definitive diagnosis, and how that could help in choosing a proper treatment. As a researcher, my goal is to find solutions - and possibly a cure - to complex neurodevelopmental disorders in order to ameliorate our patients' quality of life.

    Milena Pirozzi, Ph.D., pursued her studies between Italy, Belgium and USA.
    After her Ph.D. in Molecular Genetics (Catholic University of Rome, Italy), she perfectioned her skills on induced pluripotent stem cells (iPSCs) and human neuronal models during her postdoctoral training at KU Leuven first and at Case Western Reserve University then. Her studies started with a focus on intellectual Disability and fragile X Syndrome, but expanded to neurodevelopmental disorders.

    Milena joined CIBR in April 2018 with the aim of bringing her expertise in iPSCs, neuronal models and genome editing to study neurodevelopmental disorders in collaboration with other scientists. She is now concentrating on brain congenital abnormalities such as microcephaly and macrocephaly.

    The long term goal of her research is to better understand genetic causes of neurodevelopmental disorders in order to develop efficient and personalized treatments.

    She loves neurogenetics, but she also loves music, arts and spending time with her husband Antonio and their son Dario.

  • Award Name Award Description Awarded By Award Date
    ASHG/Charles J. Epstein Excellence in Human Genetics Research ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees (including genetic counseling trainees) through merit-based awards that recognize highly competitive abstracts submitted and presented at the ASHG Annual Meeting. These awards were renamed in 2012 to honor the late Dr. Charles Epstein, who was a past president of ASHG, former editor of AJHG, and winner of both the William Allan Award and the McKusick Leadership Award. The Program Committee and Awards Committee, in consultation with the ASHG Board of Directors, determine the number of awards, the categories for which they are given, and the prize amounts of each award. American Society of Human Genetics Oct. 22, 2016
    Lions Club Augusto Murri for Genetics Research The Murri Award is intended to reward Ph.D candidates that distinguished themselves for their contribution to the Genetics field. Lions Club Bologna (Italy) 2010 - 2011
  • Manuscripts in Refereed Journals

    • Pirozzi F, Nelson B, Mirzaa G.
      From microcephaly to megalencephaly: determinants of brain size.
      Dialogues Clin Neurosci, 2018 Dec. : 20(4)267-282
    • Zhang M, Ngo J, Pirozzi F, Sun YP, Wynshaw-Boris A
      Highly efficient methods to obtain homogeneous dorsal neural progenitor cells from human and mouse embryonic stem cells and induced pluripotent stem cells.
      29544541 Stem cell research and therapy, 2018 March 15 : 9(1)67 PMCID:PMC5856210
    • Chiurazzi P, Pirozzi F
      Advances in understanding - genetic basis of intellectual disability.
      27127621 F1000Research, 2016 : 5 PMCID:PMC4830215
    • Bongiovanni L, Pirozzi F, Guidi F, Orsini M, Chiurazzi P, Bassi PF, Racioppi M
      Bradeion (SEPT4) as a urinary marker of transitional cell bladder cancer: a real-time polymerase chain reaction study of gene expression.
      22503047 The Journal of urology, 2012 June : 187(6)2223-7
    • Tabolacci E, Pirozzi F, Gomez-Mancilla B, Gasparini F, Neri G
      The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro.
      22397687 BMC medical genetics, 2012 March 7 : 1313 PMCID:PMC3320553
    • Barba M, Pirozzi F, Saulnier N, Vitali T, Natale MT, Logroscino G, Robbins PD, Gambotto A, Neri G, Michetti F, Pola E, Lattanzi W
      Lim mineralization protein 3 induces the osteogenic differentiation of human amniotic fluid stromal cells through Kruppel-like factor-4 downregulation and further bone-specific gene expression.
      23097599 Journal of biomedicine and biotechnology, 2012 : 2012813894 PMCID:PMC3471036
    • Pirozzi F, Di Raimo FR, Zanni G, Bertini E, Billuart P, Tartaglione T, Tabolacci E, Brancaccio A, Neri G, Chiurazzi P
      Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
      21796728 Human mutation, 2011 Nov. : 32(11)E2294-307
    • Pirozzi F, Tabolacci E, Neri G
      The FRAXopathies: definition, overview, and update.
      21739597 American journal of medical genetics. Part A, 2011 Aug. : 155A(8)1803-16

  • Presentations Title Event Location Date
    Modeling microcephaly using iPSCs and Cerebral Organoids ASHG 2016 Vancouver


Research Description

Dr. Pirozzi focuses on generating neuronal models for neurodevelopment disorders, including microcephaly and macrocephaly (MIC/MAC). She generates induced pluripotent stem cells from patients? cells in order to study the molecular mechanisms leading to these two phenotypes. Her aims are to (1) identify genetic causes for primary and syndromic Mic/Mac (2) better define their neuronal pathophysiology using two-dimensional and three-dimensional in vitro models (3) identify candidate targets for drug screening and personalized treatments.