Neurodegenerative Diseases Research groups

Neurodegenerative diseases are one of the main sources of incapacity in the population over 60 years old with considerable repercussions on health system costs. The aim of this line of work is to find out more about the causal factors and physiopathology of these diseases as well as studying possible therapeutic agents that help control symptoms or delay their evolution. This involves carrying out translational research that includes both clinical and basic studies (animal models, in vitro studies, genetic, proteomics, etc.) with a multi-disciplinary focus involving studies of post-mortem cerebral and histological imagery in patients and animal models, molecular studies, genetic studies, etc.

The main aims are:

  • Clinical, neuropsychological, genetic and proteomic characterisation of these diseases.
  • Search for diagnostic and/or evolutionary bio-markers.
  • Developing cellular and animal models.
  • Obtaining neural progenitors by means of reprogramming.
  • Studying the human physiopathology and animal models of different clinical aspects of neurodegenerative diseases.

Main lines of research

  • Parkinson’s disease.
    • Studies on genetic forms of the disease and family members carrying mutations.
      • Studies of biomarkers in patients and asymptomatic carriers of LRRK2 gene mutations.
      • Identification of new genetic forms in families.
      • Natural history of genetic Parkinson’s disease.
      • Cognitive and behavioural studies (dementia / cognitive deterioration and Impulse Control Disorder).
        • Physiopathological characterisation of Impulse Control Disorder.
        • Clinical study on Impulse Control Disorder incidence and risk factors in Spain.
        • Multi-centre clinical study in Spain on treatment for Impulse Control Disorder.
        • Study of early bio-markers for cognitive deterioration associated with Parkinson’s Disease.
      • Physiopathological characterisation of dyskinesia and impulsive disorder in animal models.
      • Histopathological study of bowel dysfunction in patients and family members with Parkinson’s disease.
  • Essential tremors.
    • Search for endophenotypes and genomic and cerebral imagery study.
  • Frontotemporal dementia and other dementias.
    • Clinical and molecular characterisation of alterations to the progranulin gene and other associated genes.
    • Other molecular alterations in frontotemporal dementias.
  • Neuropsychiatric diseases: psychosis and depression.
    • Psychosis: studies of family ties and/or association with diagnosis of schizophrenia or bipolar disorder.
    • Depression: neuroinflammatory markers in depression and its treatment.
      • Translational project aiming to take a clinical problem to a lab assessment. This aims to investigate by measuring proinflammatory and anti-inflammatory factors and neuro-glial injury in periphery blood in patients with depression.
    • First psychotic episodes.
      • Awareness of illness in first psychotic episodes. Explanatory models and predictive value in the therapeutic response.
      • Consumption of nicotine in patients with recently initiated schizophrenia. An explanatory model from the hypothesis of self-medication and assessment of its incidence on the progress of the disease.
    • Cognitive functions.
      • Impact of combined treatment (PegInterferon-alpha (PegInterferon-alpha Ribavirin) on cognitive functions of patients with Chronic Hepatitis due to the Hepatitis C virus.
    • Metabolomics applied to detecting biomarkers in schizophrenia.

Science field

Life & Medical Sciences

Institution
Biodonostia
RIS3 Priorities
  • Biosciences & Health
Main researcher
Javier Ruiz Martínez, Ph.D.
Address
Biodonostia HRI Pº Dr. Beguiristain s/n 20014 Donostia – San Sebastián Gipuzkoa
How to arrive