In searching for genes, other than PRNP, influencing disease phenotype in Creutzfeldt-Jakob disease (CJD), we identified the CYP4X1 gene locus as a candidate disease modifier capable of modulating the onset of disease in patients with genetic E200K-CJD. Our aim is to validate functionally the CYP4X1 gene locus to propose it as an alternative target for preventive therapeutic approach. The results of our research will provide a better understanding of the biological pathways in CJD, potential new approaches for disease prevention and treatment that take into account people’s individual variations in genes, and lead to the discovery of novel biomarkers.
About the Researcher:
Dr. Poleggi has a Bachelor Degree in Science and a post graduate 4 years long Specialization in “Microbiology and Virology” from “Sapienza”, University of Rome. Poleggi devoted her research interest in the field of Transmissible Spongiform Encephalopathies since 2000. She is a permanent position research scientist in the department of Neuroscience, Unit of “Clinical studies, Diagnosis and Therapy of Degenerative Diseases of the CNS”, of the Istituto Superiore di Sanità in Rome, where she is in charge of the molecular surveillance of the Italian Registry of CJD. Dr. Poleggi’s research focuses on several aspects of prion diseases (from genetic, clinical and epidemiological to studies on the pathogenesis of diseases). She is particularly interested in the identification of endogenous factors, different from prion protein, implicated in the great phenotypic variability observed in the familiar forms of CJD and usable as potential therapeutic targets.
Dr. Poleggi is the recipient of:
- The Robert Dodd Memorial Grant, contributed by Kathleen Dodd and Family
- The Patrice Haggerty Memorial Grant, contributed by William Haggerty
- The Mark Garner Memorial Grant, contributed by Hannah Garner and Family and Friends
- International CJD Awareness Day Research Grant, contributed by the Families of the CJD Foundation
- The Strides for CJD Grant, contributed by the Families of the CJD Foundation