The European Joint Programme on Rare Diseases (EJP RD) “Innovative Therapies and Personalized Medicine for Rare Disease” Massive Open Online Course (MOOC), led by CVBF, has received an insightful contribution from Dr. Sara Casati, the ELSI Services & Research Unit Lead at BBMRI-ERIC.

Dr. Casati  shed light on the critical role of bs in advancing drug discovery, development, and approval processes, as well as their importance for precision medicine. The analysis highlights how the systematic introduction of omics technologies and the infrastructuring of biobanking have been instrumental in the discovery and validation of biomarkers, particularly in the field of rare diseases.

The contribution emphasizes the fundamental need for well-annotated, high-quality biological samples collected through non-invasive methods, such as urine, stool, plasma, serum, and saliva. These biobanked samples are crucial for studying and validating biomarkers using cutting-edge omics technologies, including genomics, transcriptomics, and metabolomics.

A key highlight of the analysis is the pivotal role of BBMRI-ERIC that aims to improve the accessibility and interoperability of comprehensive collections of biological samples and associated data.

The analysis further delves into the reliability requirements for biomarkers, including clinical and analytical validity, measurability through reliable and reproducible tests, the ability to distinguish between pathological and healthy states, and stability in indicating disease status and progression.