Epigenetics and Regenerative Pharmacology Lab

Areas of Investigation 

The Laboratory of Epigenetics and Regenerative Pharmacology investigates via molecular and epigenetic biology the pathogenesis of neuromuscular diseases, in order to identify applicable treatments. Particular focus is given to the forms of muscular dystrophies and muscular wasting secondary to immobilization, denervation and aging. The Laboratory uses models of cell lines cultures, primary cells isolated from murine models of disease and cells from patients suffering from subject diseases, including induced pluripotent cells converted into muscle and cells isolated from biopsies. The work focuses on the transition from pre-clinical models of disease analysis of cells derived from patients in order to generate information and scientific research applicable to human diseases and resulting in clinical response. The Laboratory has significant scientific international collaborations, in particular with the Sanford Burnham Prebys Discovery Medical Institute in San Diego as well with industries interested in developing research partnerships.

Acquired Patents 
  • Diethyl-[6-(4-hydroxycarbamoyl-phenyl-carbamoyloxy-methyl)-naphthalen-2-yl-methyl]-ammonium chloride for use in the treatment of muscular dystrophy. Saccone V, S Consalvi, PL Puri, P Mascagni; US Patent 20,140,370,089
  • Methods of Using Deacetylase Inhibitors to Promote Cell Differentiation and Regeneration. NIH / Salk, 2001. US Patent 7,229,963 - US Patent Issued on June 12, 2007. Estimated Patent Expiration Date: Icon_subject October 17, 2022
Collaborations 
  • Italfarmaco, Milan
  • NIH Laboratory of Muscle, Stem Cell and Gene Regulation, NIAMS, Bethesda, Maryland (United States)
  • Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California (United States)
Ongoing Research Projects 
  • Study of the functional interactions between cell types (muscle stem cells, progenitors fibroadipogenic, macrophages) that constitute the muscular regenerative environment, in mouse models of regeneration, neuromuscular diseases (eg muscular dystrophies) and muscular atrophies, and in cells derived from patients
  • Study of transcrional profiles and epigenetic cell types (muscle stem cells, progenitors fibroadipogenic, macrophages) that constitute the muscular regenerative environment, in mouse regeneration models, neuromuscular diseases (eg muscular dystrophies) and muscular atrophies, and in patient derived cells.
  • Identification and functional characterization and pre-clinical compounds (eg deacetylase inhibitors) able to promote muscle regeneration and prevent fibrosis and adipogenesis in neuromuscular disease models
  • Functional and molecular characterization of the relationship between DNA damage, muscle differentiation and senescence
  • Autophagic role in the progression of neuromuscular diseases (eg muscular dystrophies) and in response to treatment with deacetylase inhibitors
  • Study of exosomes in muscular regeneration and in the pathogenesis of neuromuscular diseases
  • In vitro models of neuromuscular diseases, with cells derived from patients reprogrammed to pluripotency and induced to differentiate skeletal muscle

Laboratory of Epigenitics and Regenerative Pharmacology

Fondazione Santa Lucia Irccs

Via del Fosso di Fiorano, 64 00143 Rome

European Centre for Brain Research (CERC) – Floor 4 – Room 409