Our multidisciplinary team has a long track of identifying novel genes and variants in neurological disorders, either by classical or cutting-edge approaches (WGS/WES).

These efforts demanded extensive epidemiological, clinical and genetic studies, resulting in a vast collection of biological, phenotypic and pedigree data, a resource that is internationally unique and holds a major potential to be explored to dissect further the genetic components of these diseases.

This group focus on three major research lines concerning each a group of disorders:

1) Hereditary amyloidosis (hATTR): identification of genetic and epigenetic modifier factors in age-at-onset variability.

2) Primary headaches: identification of genetic and epigenetic modifier factors associated with disease susceptibility.

3) Hereditary spinocerebellar degenerations (cerebellar ataxias and spastic paraplegias): identification of causative genes/variants, mechanisms of neurodegeneration, biomarkers, and epigenetic modifiers.

With our ongoing and future projects, we expect to achieve the following goals:

(1) Enhance the prediction of disease onset.

(2) Stratify patients by genetic modifiers profile.

(3) Identify novel biomarkers of progression, for clinical trials design.

(4) Identify novel druggable pathways.

(5) Uncover common mechanisms of neurodegeneration.