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From Gene Expression to Disease Prediction and Personalized Therapy: Lessons Learned From Lupus

by Eleni A. Frangou, Clinical Professor, Department of Basic and Clinical Sciences, UNIC Medical School.

Introduction by Professor Aleksandar Jovanovic, Head of the Department of Basic and Clinical Sciences, UNIC Medical School.

Systemic Lupus Erythematosus (SLE) is the prototypic systemic autoimmune disease characterized by damage in multiple organs, such as the skin, joints, nervous system, and the kidneys. Lupus mainly affects individuals of childbearing age and is highly heterogeneous in clinical manifestations, severity, and response to treatment. Despite efforts, the pathogenesis remains elusive, treatment is empirical, and morbidity and mortality remain increased.

Using state-of-the art technologies (such as transcriptomics, imaging, and functional analyses), a novel multistep pathway mediating kidney injury in lupus that can be targeted at multiple stages through drug repositioning was identified. A comparative cross-tissue (spleen, brain, kidney, blood) and cross-species (mice and humans) transcriptome analysis further identified genes and pathways associated with the progression from the pre-clinical stage to full blown disease. Using mouse genes as predictors of human disease, a machine-learning algorithm predicting those lupus patients that will develop kidney damage in the future was developed. Finally, computational systems analyses prioritized common cross-species genes as kidney-specific therapeutic targets in lupus.

Application of these techniques and approaches can extend beyond lupus and the kidneys, and may guide us towards precision medicine, the medicine that identifies the right therapy to be given to the right patient at the right time.

About Eleni A. Frangou

Eleni A. Frangou graduated from the Medical School of the University of Ioannina and was board certified in Nephrology from the Greek Ministry of Health. She holds an MSc in Molecular Medicine and a PhD in Medicine, both from the Medical School of the National and Kapodistrian University of Athens.

Her scientific interest focuses on the pathogenesis and personalized therapy of immune-mediated kidney diseases, mainly lupus nephritis.

She has published at high impact-factor scientific journals and international and national medical textbooks, and her work has been awarded by the European Renal Association, the European Renal Pathology Association, the European Lupus Society, and the Greek Society of Nephrology.

She was repatriated to Cyprus to work as a Nephrologist at the Organ Transplantation Centre. Currently, she is a Nephrologist at Limassol General Hospital, a research collaborator of the Biomedical Research Foundation of the Academy of Athens, the Vice-President of the Scientific Committee of the State Health Services Organization (SHSO) (Limassol-Troodos-Paphos Directorates) and an elected member of the Immunonephrology Working Group (IWG) Board of the European Renal Association.

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