Clinical and Translational Bioinformatics : VHIR Annual Report 2020

Neurosciences

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Overview

The Neuroscience area is consolidating its position as one of the largest clusters of research labs working on neurological diseases across Europe. At present, the area comprises 14 groups with more than one hundred fully dedicated researchers in close contact with top clinicians in the hospital. These research groups pursue a better and multifaceted understanding of the etiopathogenic mechanisms underlying a large variety of mostly adult but also pediatric neurological disorders including stroke, multiple sclerosis, Alzheimer’s disease, Parkinson’s disease, primary headaches, epilepsy, neuromuscular disorders, and also neurosurgical and psychiatric pathologies. The area also integrates groups involved in neuroimaging, analysis and interpretation of high-throughput data, and gene therapy strategies to target inflammatory and neurodegenerative neurological conditions.

Publications

316
total
1898
impact factor
6.01
average impact factor

Group Leader: Xavier de la Cruz Montserrat

In 2020, we have focused in the development of new tools for modeling hereditary disease at the molecular level. In particular, we have gone beyond our original studies on the effect of BRCA1/2 variants in Hereditary Breast and Ovarian Cancers, extending our work to other genes. Simultaneously, we have made an important effort to bring our ideas closer to applications, by actively collaborating with medical/clinical groups within our institution and outside it. This work has crystallized in the discovery of a previously unidentified neurodegenerative disorder (Bryant et al., 2020), an international project leadered by the Children’s Hospital of Philadelphia. In parallel, we have co-developed, together with the group of Diagnostic Immunology, a database of genetical variants underlying Familial Hemophagocytic Lymphohistiocytosis (Viñas-Giménez et al., 2020).

VHIR Annual Report 2020