Central nervous system-derived extracellular vesicles: the next generation of neural circulating biomarkers in MS disease? / Beyond Darkness: Advanced Genetic Characterization in Patients with Inherited Retinal Dystrophies

Central nervous system-derived extracellular vesicles: the next generation of neural circulating biomarkers in MS disease?

Multiple sclerosis (MS) is a demyelinating disease of the central nervous system (CNS) which affects millions of people worldwide. The CNS is integrated by glial and neuronal cells, and both release extracellular vesicles (EVs) that participate during physiological and pathological processes. Having a window into the molecular level processes that are happening in the CNS of MS patients could open a new avenue in MS research. In this sense, the study of the CSF- and blood-EVs could provide valuable information about CNS processes in MS disease.

EVs are usually characterized by CD63, CD81 and CD9 (members of the tetraspanin family), and GLAST was reported as a marker to identify CNS-derived EVs. Our preliminary results unravel the EV-tetraspanin pattern of CSF- and serum-derived EVs and the GLAST expression in CSF-EVs from MS patients using ExoView R200+ platform. ExoView technology is an innovative platform to study and validate new CNS-derived biomarkers, potentially useful in the diagnostic and the follow-up of patients with MS disease.

Beyond Darkness: Advanced Genetic Characterization in Patients with Inherited Retinal Dystrophies

Inherited retinal dystrophies (IRD) comprise a heterogeneous group of diseases primarily affecting the retina, with over 250 genes implicated in their pathogenesis. The clinical and genetic heterogeneity complicates the identification of causal mutations. Over the years, we have investigated 289 families in search of the genetic cause of the disease. Employing a range of molecular techniques, including gene panels, MLPA, hybridization arrays, and whole-genome sequencing, among others, we have successfully genetically characterized 65% of the families under study.  This seminar will focus on our latest findings, highlighting the optimization of the techniques used and the substantial progress we’ve achieved in understanding the genetic foundations of IRD.