SUMMARY OF RESEARCH

Genetics and Molecular Bases of Multiple Sclerosis

Multiple sclerosis(MS) is a disease that affects the central nervous system. The prevalence of MS in Spain is 50-100 per 100,000 inhabitants. The symptoms of the disease are varied, mainly affecting the motor skills of the individual. It is caused by the destruction of the myelin sheath of neurons due to an autoimmune attack to the oligodendrocytes, the myelin producing cells. Another feature of the disease is the accelerated death of the neurons, possibly not only as a result of the demyelination process. The etiology of this disease is unknown but it is believed that is triggered by the interaction of genetic and environmental factors .
To understand the cascade of events leading to the onset of MS, our team is developing several projects to identify molecular pathways affected in MS. For them, we perform Genome wide association study (GWAS) in collaboration with national and international consortia as the Spanish Multiple Sclerosis Network (REEM) or MSBase.

In recent years we have focused on the study of the loci IL2RA, CYP27B1, and SP140 CLEC2D. To determine as the variants localized at these loci confer susceptibility to MS, we performed functional studies analyzing the effect of the polymorphisms in the expression and processing of the mRNA. To perform this studies we employ Microarray, RNAseq and real time PCR for quantification of expression in different cell types of healthy and sick individuals and correlate this data with genotypes associated with MS. We also use data from international projects as GTEX projects, 1000 Genomes and ENCODE to determine the functional effect of the variants.

FUNDING AGENCIES LAST 5 YEARS

- DETERMINACION DE LOS EFECTOS FUNCIONALES DE LAS VARIANTES ASOCIADAS A LA PROGRESION Y LA HETEROGENEIDAD EN LA ESCLEROSIS MULTIPLE. PROYECTO, PN2022 - PROY I+D GENERACION CONOC. - PID, Ref: PID2022-138400OB-C21, (2023 - 2027).

- RED ESPAÑOLA DE ESCLEROSIS MULTIPLE. PROYECTO, , Ref: RED2022-134425-T, (2023 - 2025).

- INTERACCIONES GENE X AMBIENTE EN LA HETEROGENEIDAD DE LA ESCLEROSIS MULTIPLE REVELADA POR POLYGENIC RISK SCORES (PRS). PROYECTO, PN2019 - Proyectos I+D+i «Retos Investigación», Ref: PID2019-110487RB-C21, (2020 - 2024).

- Biomarcadores de Esclerosis Múltiple: RNA-Seq de células únicas en líquido cefaloraquídeo e integración de datos de GWAS internacional. PROYECTO, J.A.- Retos de la sociedad andaluza, Ref: P18-RT-2623, (2020 - 2023).

PUBLICATIONS

DOCTORAL THESES LAST 5 YEARS