Neurodegenerative Diseases

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
Dr. Javier Ruiz Martínez is a Clinical Neurologist at the Neurology Service of the Donostia University Hospital (Donostialdea IHO), and Doctor of Medicine and Surgery from the University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU) obtaining the extraordinary prize in 2012. He completed his MSc in Movement Disorders from the University of Murcia in 2011 and obtained the CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases) scholarship in research intensification, between 2009 and 2011. Accredited as a Professor by UNIBASQ, he combines his care-providing activity in the Movement Disorders Unit of the Donostia University Hospital, with teaching as a collaborator of the UPV/EHU Faculty of Medicine and of the Doctoral and Master’s Programmes in Neuroscience run by the Department of Neurosciences. He annually directs final degree projects, master’s theses, as well as doctoral theses.He is Co-Leader of the Neurodegenerative Diseases Department at the Biodonostia HRI, leading as Principal Investigator research projects subsidised by autonomous, national and international bodies. He collaborates in national consortia (COPPADIS), and in international consortiums such as the PPMI (The Parkinson´s Progressive Markers Iniciative) subsidized by the MIchael J. Fox Foundation. He is also a member of the Spanish Society of Neurology’s Study Group in Movement Disorders, has been a member of the board of directors of the Society of Neurology of the Basque Country, in addition to collaborating in the assessment of ANEP (National Agency of Evaluation and Prospective) projects, and with different scientific journals for article reviews. Dr. Myriam Barandiaran Amillano is a Clinical Psychologist, MSc in Clinical Neuropsychology and Doctor in Neuroscience from the University of the Basque Country (UPV/EHU), accredited as an Expert in Clinical Neuropsychology by the Official Council of the Spanish Association of Psychologists. A Neuropsychologist with the Donostia University Hospital (Donostialdea IHO) Neurology Service, she is also Co-Leader of the Neurodegenerative Diseases Group at the Biodonostia HRI. She collaborates with the GENFI (Genetic FTD Initiative) Health Research Authority and with different research programmes in cognitive aspects of neurodegenerative processes. She is a professor of the Master’s Degree Programme in Neuropsychology at the Autonomous University of Barcelona (UAB), the University of the Basque Country (UPV/EHU) and of the Master’s Degree in Neuropsychology and Education at the International University of La Rioja (UNIR). She supervises students taking their Master’s Degree in Neuropsychology at the Autonomous University of Barcelona (UAB), the National Distance Education University (UNED), the Universitat Oberta de Catalunya (UOC) as well as students taking their Bachelor’s and Master’s Degree in Psychology at the UPV/EHU. She has given numerous courses and papers on neuropsychological assessment in dementias, treating behavioural disorders and non-pharmacological therapies.

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.

Team Members

Name Surname
Center E-mail
Patricia Alves Dias IIS Biogipuzkoa patricia.alves@bio-gipuzkoa.eus
Szymon Piotr Bajew IIS Biogipuzkoa szymonpiotr.bajew@bio-gipuzkoa.eus
David Campo Caballaero OSI Bidasoa DAVID.CAMPOCABALLERO@osakidetza.eus
Ioana Croitoru IIS Biogipuzkoa ioana.croitoru@bio-gipuzkoa.eus
Igone Etxeberria Arrichabal UPV-EHU igone.etxeberria@ehu.eus
Esther Fernández Pardavila OSATEK efernandez@osatek.net
Alazne Gabilondo López OSI Bidasoa alazne.gabilondolopez@osakidetza.eus
Gorka Gereñu Lopetegi IIS Biogipuzkoa gorka.gerenu@bio-gipuzkoa.eus
Ana Gorostidi Pagola IIS Biogipuzkoa ana.gorostidi@bio-gipuzkoa.eus
Haizea Hernández Eguiazu IIS Biogipuzkoa haizea.hernandez@bio-gipuzkoa.eus
Andrés Jiménez Zúñiga IIS Biogipuzkoa andres.jimenez@bio-gipuzkoa.eus
Ane Mínguez Olaondo OSI Donostialdea
Elisabet Mondragón Rezola OSI Donostialdea elisabet.mondragonrezola@osakidetza.eus
Saioa Moragón Rodríguez IIS Biogipuzkoa saioa.moragon@bio-gipuzkoa.eus
Fermín Moreno Izco OSI Donostialdea
Amaia Muñoz Lopetegi OSI Donostialdea AMAIA.MUNOZLOPETEGI@osakidetza.eus
Mikel Tainta Cuezva OSI Goierri Alto Urola mikel.taintacuezva@osakidetza.eus
Ana Vinagre Aragón OSI Donostialdea ana.vinagrearagon@osakidetza.eus
Jose Luis Zuñiga Elizari IIS Biogipuzkoa joseluis.zunigaelizari@bio-gipuzkoa.eus

Scientific Output

ESTUDIO ETIOLOGICO DE LAS FENOCOPIAS DE LA ENFERMEDAD DE HUNTINGTON
Código: 2023111051/BD
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2023-11-01
Fecha de finalización: 2026-10-31
Importe Concedido: 1.732,12 €
DETECCION DE MARCADORES DE ARN EN BIOFLUIDOS PARA EL DIAGNOSTICO DIFERENCIAL DE ENFERMEDADES NEURODEGENERATIVAS
Código: 2023333004
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2023-01-01
Fecha de finalización: 2023-12-31
Importe Concedido: 54.970,99 €
PREDIMIGRAINE: MEDICINA DE PRECISION PARA PREVENIR LA CRONIFICACION DE LA MIGRAÑA A TRAVES DE LA PREDICCION DE LAS CRISIS DE DOLOR Y DE LA RESPUESTA AL TRATAMIENTO CON ANTICUERPOS ANTI-CGRP UTILIZANDO ESTRATEGIAS MULTI-OMICAS
Código: PMP22/00166
Investigador Principal (IP): ANE MINGUEZ OLAONDO
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2023-01-01
Fecha de finalización: 2025-12-31
Importe Concedido: 110.000,00 €
TERAPIAS DE ARN ANTISENTIDO: HACIA EL DESARROLLO DE UNA ESTRATEGIA PERSONALIZADA EN LA DEMENCIA FRONTOTEMPORAL POR DEFICIT DE PROGRANULINA
Código: PI22/00598
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2023-01-01
Fecha de finalización: 2025-12-31
Importe Concedido: 141.570,00 €
CARACTERIZACION DEL PROCESAMIENTO DEL ARN EN EL GLIOBLASTOMA MULTIFORME: IDENTIFICACION DE NUEVAS DIANAS MOLECULARES Y DESARROLLO DE TERAPIAS DE ARN PERSONALIZADAS
Código: 2021111061
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2021-01-01
Fecha de finalización: 2026-06-30
Importe Concedido: 121.242,00 €
EVALUATION OF CRISPR-DCAS13 SYSTEM AS A PRECISION MEDICINE APPROACH FOR GLIOBLASTOMA MULTIFORME / EL SISTEMA CRISPR-DCAS13 COMO UNA NUEVA ESTRATEGIA DE MEDICINA DE PRECISIÓN PARA EL GLIOBLASTOMA MULTIFORME
Código: AECC21/1001
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: ASOCIACION ESPAÑOLA CONTRA EL CANCER
Fecha de Inicio: 2021-10-01
Fecha de finalización: 2025-05-31
Importe Concedido: 246.800,00 €
PHOSPHO-PROTEOME ANALYSIS OF PBMCs IN LRRK2 MUTATION CARRIERS: EXPANSION &VALIDATION OF FINDINGS OF THE BARCELONA LRRK2 BIOREPOSITORY
Código: 2020/MJFF/PROTEOMICS
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: THE MICHAEL J. FOX FOUNDATION FOR PARKINSON'S RESEARCH
Fecha de Inicio: 2021-08-01
Fecha de finalización: 2023-08-01
Importe Concedido: 27.197,86 €
ESTUDIO MULTICENTRICO PARA LA VALIDACION DE LA TOMOGRAFIA DE COHERENCIA OPTICA MACULAR COMO BIOMARCADOR DIAGNOSTICO Y PRONOSTICO EN LOS SINDROMES PARKINSONIANOS
Código: 2019111100/BD
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2019-11-30
Fecha de finalización: 2024-12-31
Importe Concedido: 26.585,00 €
B12 EN ENFERMEDAD DE PARKINSON IDIOPATIA Y ASOCIADA A LRRK2: CORRELACION CLINICA Y EVALUACION DE EFICACIA PRECLINICA DE ANALOGOS DE B12 EN UNA PLATAFORMA BASADA EN EL MODELO DE COHESION CENTROSOMAL
Código: PI19/01653
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2024-06-30
Importe Concedido: 111.320,00 €
DISEÑO DE BIOMARCADORES PARA DEMENCIA FRONTOTEMPORAL ASOCIADA A MUTACIONES EN GRN
Código: PI19/01637
Investigador Principal (IP): FERMIN MORENO IZCO
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2023-12-31
Importe Concedido: 107.690,00 €
EVALUACION DEL SISTEMA CRISPR-DCAS13 COMO ESTRATEGIA DE MEDICINA PERSONALIZADA EN ENFERMEDADES NEURODEGENERATIVAS:ESTUDIOS IN VITRO Y EN UN MODELO ANIMAL DE ATROFIA MUSCULAR ESPINAL (AME)
Código: PI19/00468
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2024-06-30
Importe Concedido: 183.920,00 €