Emilia Vitale

Biography

My major research interest is genomics, during my training I mapped and cloned several genetic disease genes.  In my first postdoctoral experience at the laboratory directed by Dr. Francesco Ramirez of the Molecular Genetics Department of Mount Sinai Medical Center, New York, we successfully cloned a new family of extracellular matrix proteins (fibrillin 1 and fibrillin 2), which were linked to Marfan and Beals syndrome. Then at Columbia University (New York, NY, USA) in Dr. Conrad Gilliam I map the region of the Spinal Muscular Atrophy (SMA) locus on 5q11. At Rutgers Medical Center in Newark (former NJMS) I study the genetic of Hereditary Hearing loss and collected sample families segregating non-syndromic deafness genes (NSHI) and laterality defect, trying to understand the intriguing machinery behind human left-right asymmetry. Finally I expanded my interest to genes responsible for neurocognitive and neuropathology disorders. Identified a new gene responsible for a syndromic X-linked mental retardation associated with short stature and a new pattern of genetic abnormalities in Multiple Sclerosis (MS). My research project on MS focused on identifying the genes involved in the neural damage and repair of the myelin, I utilized genetic markers spaced throughout the 23 human chromosomes to analyze a large pedigree with seven affected members. My latest findings suggested that there are allelic associations of MS with polymorphisms in theST8SIA1 gene, and showed the existence of a disequilibrium transmission of some paternal allele of the gene thus underlying a new mechanism of transmission regulated by genomic imprinting. I am presently Research Scientist at the Institute of Protein Biochemistry of CNR in Naples and focused onneural networks (neuroplasticity) in normal and pathological neurodegeneration. Moreover with the acquisition of an International joint R&D grant onIndustrial Scientific and Technological Research and Development Cooperation Italy & Israel program, we will, based on Anima’s Protein Synthesis Monitoring (PSM) technology, develop assays for measuring local protein synthesis in neurons in the characterization of neurodegenerative disorders. 

Research Interest

Biochemistry