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 Biodonostia HRI patricia.alves@biodonostia.org
Alberto Bergareche Yarza Donostialdea IHO alberto.bergarecheyarza@osakidetza.eus
Lorea Blazquez García Biodonostia HRI lorea.blazquez@biodonostia.org
Ioana Croitoru Biodonostia HRI ioana.croitoru@biodonostia.org
Igone Etxeberria Arrichabal UPV/EHU igone.etxeberria@ehu.eus
Esther Fernandez Pardavila OSATEK efernandez@osatek.net
Alazne Gabilondo López Bidasoa IHO alazne.gabilondolopez@osakidetza.eus
Mikel García Puga Biodonostia HRI mikel.garcia@biodonostia.org
Gorka Gereñu Lopetegi Biodonostia HRI gorka.gerenu@biodonostia.org
Ana Gorostidi Pagola Biodonostia HRI ana.gorostidi@biodonostia.org
Haizea Hernández Eguiazu Biodonostia HRI haizea.hernandez@biodonostia.org
Andrés Jiménez Zúñiga Biodonostia HRI andres.jimenez@biodonostia.org
Maria Manterola Larrañaga Biodonostia HRI maria.manterolalarranaga@biodonostia.org
Ane Mínguez Olaondo Donostialdea IHO
Elisabet Mondragón Rezola Donostialdea IHO elisabet.mondragonrezola@osakidetza.eus
Saioa Moragón Rodríguez CIBERNED saioa.moragon@biodonostia.org
Fermín Moreno Izco Donostialdea IHO
Jon Ondaro Ezkurra Biodonostia HRI jon.ondaro@biodonostia.org
Ane Rubio Zulaika Biodonostia HRI ane.rubio@biodonostia.org
Mikel Tainta Cuezva Goierri Alto Urola IHO mikel.taintacuezva@osakidetza.eus
Ane Velasco Bilbao Biodonostia HRI ane.velasco@biodonostia.org
Ana Vinagre Aragón Donostialdea IHO ana.vinagrearagon@osakidetza.eus

Scientific Output

DETECCION DE MARCADORES DE ARN EN BIOFLUIDOS PARA EL DIAGNOSTICO DIFERENCIAL DE ENFERMEDADES NEURODEGENERATIVAS
Código: 2021333041
Investigador Principal (IP): FERMIN MORENO IZCO
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2021-01-01
Fecha de finalización: 2021-12-31
Importe Concedido: 56.443,31 €
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: 2024-12-01
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: 2024-09-30
Importe Concedido: 246.800,00 €
INVESTIGACION EN SISTEMAS DE DIAGNOSTICO AVANZADOS, HACIA UNA SALUD PERSONALIZADA. ZURETZAT
Código: ZL-2021/00051
Investigador Principal (IP): ANA GOROSTIDI PAGOLA
Entidad Financiadora: DEPARTAMENTO DE DESARROLLO ECONOMICO, SOSTENIBILIDAD Y MEDIO AMBIENTE
Fecha de Inicio: 2021-04-01
Fecha de finalización: 2022-02-28
Importe Concedido: 0,00 €
PROGRAMA DE MEJORA DE LA CALIDAD ASISTENCIAL AL PACIENTE CON ENFERMEDAD DE PARKINSON Y OTROS PARKINSONISMOS DURANTE EL INGRESO HOSPITALARIO.ORGANIZACION DE LA ASISTENCIA Y CREACION DE UN CIRCUITO DE ATENCIÓN ESPECIALIZADO
Código: 21BU214
Investigador Principal (IP): ANA VINAGRE ARAGON
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2020-10-01
Fecha de finalización: 2021-09-30
Importe Concedido: 4.553,75 €
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: 2024-06-30
Importe Concedido: 26.585,00 €
TRATAMIENTO MULTIDISCIPLINAR DE LOS TRASTORNOS DEL MOVIMIENTO DE ORIGEN FUNCIONAL
Código: 20BU212
Investigador Principal (IP): ELISABET MONDRAGON REZOLA
Entidad Financiadora: OSI DONOSTIALDEA
Fecha de Inicio: 2019-10-01
Fecha de finalización: 2022-12-31
Importe Concedido: 12.386,00 €
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 €
SPORT EPIGENETICS.BONO TECNOLOGICO 2018 - KIROLDNA
Código: 0429/2018/0164
Investigador Principal (IP): ANA GOROSTIDI PAGOLA
Entidad Financiadora: FOMENTO DE SAN SEBASTIAN SA
Fecha de Inicio: 2019-01-23
Fecha de finalización: 2019-04-30
Importe Concedido: 12.500,00 €
BONO TECNOLOGICO 2016 - SOMAPROBES
Código: 02433/2016/0166
Investigador Principal (IP): ANA GOROSTIDI PAGOLA
Entidad Financiadora: FOMENTO DE SAN SEBASTIAN SA
Fecha de Inicio: 2016-11-25
Fecha de finalización: 2017-06-07
Importe Concedido: 4.550,00 €
NIVELES DE ACIDO URICO Y OTROS METABOLITOS PLASMATICOS Y EL RIESGO DE DESARROLLAR ENFERMEDAD DE PARKINSON EN LAS COHORTES DE GUIPUZCOA NAVARRA Y MURCIA DEL ESTUDIO PROSPECTIVO EUROPEO SOBRE NUTRICION Y CANCER EPIC
Código: 2016111098
Investigador Principal (IP): ALBERTO BERGARECHE YARZA
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2016-12-01
Fecha de finalización: 2020-12-31
Importe Concedido: 72.848,00 €
LA ESCLEROSIS LATERAL AMIOTROFICA COMO ENFERMEDAD METABOLICA ESTUDIO DE MECANISMOS PATOGENICOS Y APROXIMACION TERAPEUTICA
Código: 2015111122
Investigador Principal (IP): FRANCISCO JAVIER GIL BEA
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2015-12-15
Fecha de finalización: 2018-02-04
Importe Concedido: 48.000,00 €
DETERIORO COGNITIVO EN LA ENFERMEDAD DE PARKINSON:CORRELATO HISTOLOGICO DEL HIPOMETABOLISMO Y LA ATROFIA CEREBRAL EN UN MODELO ANIMAL Y EFECTO DE LA ESTIMULACION COGNITIVA EN PACIENTES
Código: PI14/00763
Investigador Principal (IP): MARIA CRUZ RODRIGUEZ OROZ
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2015-01-01
Fecha de finalización: 2018-12-31
Importe Concedido: 86.515,00 €