Group co-leader: Javier Ruiz Martínez, Ph.D.

Donostialdea IHO E-mail javier.ruizmartinez@osakidetza.eus

Group co-leader: Myriam Barandiaran Amillano, Ph.D.

OSI Donostialdea E-mail miriamjesus.barandiaranamillano@osakidetza.eus

Strategic Objectives

Neurodegenerative diseases constitute one of the main sources of disability in the population aged over 60 years, with notable repercussion on health service costs. The aim of this line of work is to advance in knowledge of the causal factors and physiopathology of these diseases, and to study possible therapeutic agents that contribute to controlling their symptoms or delaying their evolution. Translational research is therefore carried out comprising both clinical and basic studies (animal models, in-vitro, genetic, proteomic studies, etc.), with a multidisciplinary approach including the clinical monitoring of patient cohorts, brain imaging studies, and post-mortem histological studies both in patients and in animal models, molecular, genetic studies, etc.

The main aims are:

• • Clinical, neuropsychological, genetic and proteomic characterisation of these diseases.
  • Search for diagnostic and/or evolutionary biomarkers.
  • Development of cell and animal models.
  • Obtaining neural progenitor cells by means of reprogramming.
  • Study of human physiopathology and in animal models of several clinical aspects of neurodegenerative diseases.
  • Development of molecules with potential modulating effect on the course of the disease.

Main lines of research

Parkinson’s disease

• • Studies in genetic forms of Parkinson’s disease(both in patients and in relatives who are asymptomatic mutation carriers)
    • • Studies of biomarkers in patients and asymptomatic LRRK2 mutation carriers (PPMI study).
      • Identification of new genes in families with several members affected (ROPAD study).
      • Study of the natural history of genetic Parkinson’s disease (PPMI study)
      • Histopathological study of viscera in patients and relatives with genetic Parkinson’s disease.
      • Design and testing of molecules with the potential to modulate PD associated to LRRK2 gene mutations.
      • Study of the animal model in flies with LRRK2 gene mutations.
      • Participation in clinical trials on molecules with specific activity for patients with LRRK2 gene mutations.
• • Study of idiopathic Parkinson’s Disease
    • • Clinical monitoring of the national cohort of patients with Parkinson’s disease (COPPADIS study).
      • Study of PD markers in tears.
      • Ophthalmology study of synucleinopathy markers by means of OCT.
      • Participation in clinical trials.

Essential tremor

• • • Search for endophenotypes and genomic and brain imaging study.

Huntington’s Disease

• • Neuropsychological study of patients and asymptomatic relatives with Huntington’s Disease.
  • Participation in clinical trials.

Ataxia

• • Clinical, neuropsychological and genetic characterisation of cerebellar ataxia.

Frontotemporal dementia

• • Studies in genetic forms of the disorder.
  • Clinical and molecular characterisation of alterations in the progranulin gene.
  • Identification of biomarkers in patients and asymptomatic progranulin mutation carriers.
  • Other molecular alterations in frontotemporal dementias.
  • Cognitive and behavioural studies.
  • Participation in International Consortiums (GENFI, TAU-Consortium) to identify early-onset biomarkers for the disorder.
  • Participation in the European FRONTIERS study to identify the incidence of frontotemporal dementia.
  • Participation in clinical trials on the treatment of FTD associated to progranulin mutation.

Alzheimer’s Disease

• • Studies to identify early-onset biomarkers.
  • Clinical trials.