Research lines

• Clinical cohorts of prodromal & established disease

  We have built unique prospective cohorts for the clinical and biological characterization of at-risk and prodromal Parkinson’s disease cohorts, e.g., REM sleep disorders or smell loss (HeBA-Healthy Brain Ageing), genetic Parkinson’s cohorts (PPMI-Parkinson’s Progression Markers Initiative, LITE-LRRK2 Investigative Therapeutics Exchange, GP2-Global Parkinson's Genetics Program, L2CC-LRRK2 Cohort Consortium, Barcelona LRRK2 study group), and prodromal or manifest atypical parkinsonisms such as multiple system atrophy and progressive supranuclear palsy, as well as Huntington’s disease (Catalan MSA Registry, Stepback PSP Prediagnostic cohort, Barcelona PSP Registry, GP2 Atypical Parkinsonisms, CLEAR – European Corticobasal Degeneration Registry, Huntington’s ENROLL-HD).

• Novel diagnostic & prognostic biomarkers

  We seek, set-up and introduce clinically meaningful biomarkers. Hence, we pioneered the alpha-synuclein seed amplification assay in CSF, being the first centre to introduce this technique as a routine diagnostic test for Parkinson’s in Spain. We found CSF beta-amyloid levels as predictors of dementia in Parkinson’s. We identified RAB12 as an endogenous biomarker of LRRK2 activity in G2019S LRRK2 Parkinson’s. We also identified CSF inflammatory markers useful for the diagnosis of multiple system atrophy (patent). We are among the first centres in the country using tau imaging through PET in progressive supranuclear palsy.

• Innovative tissue & cellular models of disease

  We investigate the pathophysiological mechanisms and pathways to unravel novel therapeutic targets of neurodegenerative movement disorders using human disease models. Thus, apart from post-mortem brain tissue, we use blood cells and skin fibroblasts from live patients, which can be reprogrammed to either dopaminergic neurons (Parkinson’s patients) or oligodendrocytes (multiple system atrophy patients). This enables us to assess in vitro the effects of exposure to toxic alpha-synuclein in nerve cells coming from actual patients. We also apply multi-omic unbiased approaches (epi-/genomics, transcriptomics, and phospho-/proteomics), often at the whole genome level, to capture the multiple levels of cell dysfunction in these diseases.

• Advancing therapeutic targets & clinical trials

  Through the previous research line of our experimental lab, our outpatients’ clinic, and our clinical trials team, we participate in the most innovative clinical trials of new therapies for Parkinson’s, atypical parkinsonisms and Huntington’s, offering our patients the opportunity to be involved in ongoing therapeutic development. These include cutting-edge approaches such as immunotherapy against alpha-synuclein and tau proteins, LRRK2 kinase inhibitors, and antisense oligonucleotides repressing the expression of genes such as huntingtin and tau. We also conduct preclinical studies in collaboration with the pharmaceutical industry (e.g., novel LRRK2 inhibitors for Parkinson’s patients; new small molecules in cell models of multiple system atrophy).