Neuromuscular Diseases

Group co-leader: Adolfo López de Munáin, M.D., Ph.D.

IIS Biodonostia E-mail adolfo.lopezdemunainarregui@osakidetza.eus

Group co-leader: Amets Sáenz Peña Ph.D.

IIS Biodonostia E-mail amets.saenzpena@osakidetza.eus
Dr. Adolfo López de Munain, Head of the Neurological Service at the Donostia University Hospital (Donostialdea IHO) and Coordinator of the Neurosciences Area, is also Co-Leader of the Neuromuscular Diseases Group at the Biodonostia HRI where, in addition to the main line of Neuromuscular Diseases, he has also actively participated in the design and setting in motion of other clinical and molecular lines of research in Neurodegenerative Diseases. He is the author or co-author of more than 304 peer-reviewed articles, 40 book chapters and monographs and more than 400 presentations at national and international congresses as well as guest papers. In this period, he has been the director of 20 Doctoral Theses in some of the lines mentioned. Principal Researcher or collaborator in more than 41 R&D&I projects funded in competitive calls by Administrations or public and private bodies. He also has 6 registered patents. He belongs to programme 3 at the CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases), of which he has been the Scientific Director since November 2020. Apart from his career as a biomedical neurologist and researcher, Dr. López de Munain has a BSc in Historical Sciences and is Associate Professor of Neurology at the University of the Basque Country (UPV/EHU). Dr. Amets Sáenz Peña, graduated as a Doctor in Biological Sciences from the University of the Basque Country (UPV/EHU) and has extensive experience in the field of neurogenetic research in neuromuscular diseases and epilepsy started in the year 1994 with numerous publications in journals of international prestige in said field. Co-Leader of the Neuromuscular Diseases Group at the Biodonostia HRI, she has experience in benchmark foreign centres, such as GÉNÉTHON, Évry (France), Genome Quebec Innovation Centre-McGill University, Montreal (Canada) and the Tokyo Metropolitan Institute of Medical Science, Tokyo (Japan). Dr. Sáenz has continuously obtained state funding (FIS, Carlos III Health Institute) in research projects until 2020 and is a member of the CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases). She has more than 47 publications to her name, has directed 2 doctoral theses and is Head of Training at the Biodonostia HRI.

Strategic Objectives

  • Phenotypic and neuropsychological characterisation of neuromuscular diseases.
  • Genotype/phenotype correlation in LGMD2A.
  • Development of cellular models for physiopathological studies and testing of therapies in neuromuscular diseases.
  • Clinical and pre-clinical trials.

Main lines of research

  • Waist dystrophies.
  • Facio-scapulo-humeral dystrophy and other scapulo-peroneal syndromes.
  • Myotonic dystrophy.
  • Duchenne dystrophy.
  • Cellular models for muscular diseases.

 

Team Members

Name Surname Center E-mail
Ana Aiastui Pujana IIS Biodonostia ana.aiastui@biodonostia.org
Jesús Maria Aizpurua Iparraguirre UPV – EHU jesusmaria.aizpurua@ehu.es
Sonia Alonso Martín IIS Biodonostia sonia.alonso@biodonostia.org
Xabier Bengoetxea Bausela IIS Biodonostia xabier.bengoetxea@biodonostia.org
Lorea Blazquez García IIS Biodonostia lorea.blazquez@biodonostia.org
Maria Pilar Camaño González IIS Biodonostia pilar.camano@biodonostia.org
Martxel Dehesa Etxebeste IIS Biodonostia martxel.dehesa@biodonostia.org
Amaia Elicegui Aguirre IIS Biodonostia amaia.elicegui@biodonostia.org
Juan Bautista Espinal Valencia OSI Donostialdea juanbautista.espinalvalencia@osakidetza.eus
Mikel García Puga Biodonostia HRI mikel.garcia@biodonostia.org
Gorka Gereñu Lopetegi IIS Biodonostia gorka.gerenu@biodonostia.org
Francisco Javier Gil Bea IIS Biodonostia francisco.gilbea@biodonostia.org
Pablo Iruzubieta Agudo OSI Donostialdea pablo.iruzubietaagudo@osakidetza.eus
Garazi Labayru Isusquiza UPV-EHU
Pablo Marco Moreno  IIS Biodonostia pablo.marco@biodonostia.org
Itxaso Martí Carrera OSI Donostialdea mariaitxaso.marticarrera@osakidetza.eus
Jose Ignacio Miranda Murua UPV – EHU ji.miranda@ehu.es
Laura Mosqueira Martín IIS Biodonostia laura.mosqueira@biodonostia.org
Neia Naldaiz Gastesi IIS Biodonostia neia.naldaiz@biodonostia.org
Jon Ondaro Ezkurra IIS Biodonostia jon.ondaro@biodonostia.org
Oihane Pikatza Menoio IIS Biodonostia oihane.pikatza@biodonostia.org
Juan José Poza Aldea OSI Donostialdea juanjose.pozaaldea@osakidetza.eus
Amets Saénz Peña IIS Biodonostia amets.saenzpena@osakidetza.eus
Andone Sistiaga Berrondo UPV – EHU andone.sistiaga@ehu.es
Ainara Vallejo Illarramendi UPV – EHU ainara.vallejo@ehu.es
Andrea Valls Rodriguez IIS Biodonostia andrea.valls@biodonostia.org
Ane Velasco Bilbao IIS Biodonostia ane.velasco@biodonostia.org
Miren Zulaica Ijurco IIS Biodonostia miren.zulaicaijurco@osakidetza.eus

Scientific Output

Projects

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