Fondazione Santa Lucia IRCCS

Neuroembriology Lab

Areas of Investigation 

This Lab is involved in studying the expression of genes involved in stem cell, in cell differentiation and in the transformation from normal to pathological cell. The research activity focuses primarily on the molecular mechanisms that expand the number and complexity of products transcribed from each gene through the processing of nuclear RNA.

A first field of study concerns the characterization of genes induced or repressed, which ensure the plasticity of neural stem cells and make possible self-renewal and the generation of neurons, oligodendrocytes and astrocytes. The goal is to understand the mechanisms underlying the differentiation of stem cells for therapeutic purposes.


Studies of Spinal Muscular Atrophy

The Laboratory is also studying alternative splicing of the SMN2 gene, whose regulation is the basis of spinal muscular atrophy (SMA). SMA is caused by mutations in the SMN1 gene, while the SMN2 gene is almost identical. During the nuclear processing of the primary transcript of messenger RNA in the SMN2 gene, a gene segment (exon 7) is deleted. This leads to the production of an unstable protein and unable to compensate for the absence of SMN1. The consequence is the death of spinal motor neurons and the progressive atrophy and paralysis of skeletal muscles. Understanding the mechanism of SMN2 adjustment allows the inducement of the production of a functional protein, able to prevent the death of motor neurons related to SMA.


T Lymphocytes and Multiple Sclerosis

A third area of research concerns the regulated gene expression by inflammatory cytokine interleukin-1 beta (IL-1b) in T cells. In particular, the Laboratory studies Th17 cell subpopulation, involved in the development of autoimmune diseases, such as multiple sclerosis (SM). Through the global sequencing studies of mRNA produced during the polarization of T lymphocytes, they can be identified genes regulated by IL-1b. The thus identified genes are examined in healthy subjects and MS patients, clarifying whether the alteration of gene expression in T cells is related to pathology.


Epithelial Tumors

The Laboratory of Neuroembriology also identifies factors and splicing events that contribute to the neoplastic transformation of epithelial tumors that develop on the lining of organs such as prostate and pancreas. These studies aim to select new therapeutic targets for currently incurable oncologic disease.

  • Department of Histology and Medical Embryology, Sapienza - University of Rome (Italy)
  • Digestive Diseases and Liver Unit, Sant'Andrea Hospital, Rome (Italy)
  • GenoSplice, Paris (France)
  • Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne (United Kingdom)
Ongoing Research Projects 
  • Implication of the IL-1ß/MyD88 pathway in the differentiation of human Th17 pathogenic cells in multiple sclerosis
  • Regulation of SMN2 splicing in cell and mouse models of Spinal Muscular Atrophy
  • Role of alternative polyadenylation in cancer cells

Laboratory of Neuroembriology

Fondazione Santa Lucia Irccs

Via del Fosso di Fiorano, 64 00143 Rome

European Centre for Brain Research (CERC) – Floor 1 – Room 121