In a significant contribution to the European Joint Programme on Rare Diseases (EJP RD) “Innovative Therapies and Personalized Medicine for Rare Disease” Massive Open Online Course (MOOC), Dr. Eleni Katsantoni, an Investigator and an Assistant Professor at the Biomedical Research Foundation of the Academy of Athens, has contributed with insights into the realm of personalized medicine.

Dr. Katsantonis focuses on defining personalized medicine, referencing the EU Health Ministers’ Council conclusions from December 2015. She explaines how this medical model aims to tailor prevention and treatment strategies for specific groups, using technologies like molecular profiling and medical imaging. Dr. Katsantoni describes the personalized medicine as a process: including deep phenotyping of patients, data preprocessing, mining, and the development of diagnostic and prognostic models..

Dr Katsantonis also explores the role of omics technologies in personalized medicine providing an overview of various omics disciplines, including genomics, transcriptomics, proteomics, and metabolomics. She explaines how these interconnected levels of biological study contribute to understanding an organism’s unique phenotypic characteristics.

Dr. Katsantoni’s presentations cover complex concepts, including Chromatin Immunoprecipitation followed by Sequencing (ChIP-seq) procedures, used for genome-wide profiling of DNA-binding proteins and single-cell RNA sequencing, providing MOOC participants with information on current personalized medicine techniques.

As personalized medicine continues to develop, particularly in the field of rare diseases, the information provided by Dr. Katsantoni in this MOOC contributes to the ongoing education in this area.