Emilia Vitale, Ph.D
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Affiliation(s):
Institute of Biochemistry and Cell Biology (IBBC-CNR)
ORCID URL:
Areas of Interest:
neuroinflammation, Identifying and analyzing genomic variants of AD
Biography & Research:
My major research interests are in the field of genomics. During my training, I mapped and cloned several genes involved in the pathogenesis of specific genetic diseases. During my first postdoctoral fellowship in the laboratory of 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 syndromes. Subsequently, during a post-doctoral fellowship at Columbia University, New York, NY, USA in the laboratory of Dr. Conrad Gilliam, I mapped the region of the Spinal Muscular Atrophy (SMA) locus on 5q11. As a faculty member and principal investigator at the New Jersey Medical School (NJMS), currently Rutgers NJMS, in Newark, NJ, I investigated the genetics of Hereditary Hearing loss. We collected samples from families segregating non-syndromic deafness genes (NSHI) and moreover, laterality defects in an attempt to understand the complex machinery behind human left-right asymmetry. At the New Jersey Medical School, I further expanded my studies into genes responsible for neurocognitive and neuropathologic disorders. We mapped a new gene responsible for an X-linked mental retardation syndrome associated with short stature and identified a new pattern of genetic abnormalities in Multiple Sclerosis (MS). Our research in MS focused on the identification of genes involved in the neural damage and repair of myelin. We utilized genetic markers spaced throughout the 23 human chromosomes to analyze a large pedigree with seven affected members. Our findings suggested that there are allelic associations of MS with polymorphisms in the ST8SIA1 gene and demonstrated the existence of a disequilibrium transmission of some paternal alleles of the gene. These observations prompted us to propose a new mechanism of transmission regulated by genomic imprinting. Currently, I am coordinating the NeurOMICS lab at the Institute of Biochemistry and Cell Biology (IBBC) of CNR in Naples. Our work is focused on aging and neuroinflammation. I also manage a neurodegeneration BioBank and conduct studies on understanding the complexities in the pathogenesis of dementia.
