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 320 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 is the Scientific Director of CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases), which is integrated since 2022 in CIBER, where he participates in the program 3 of research on Neuromuscular Diseases. In addition to his career as a biomedical neurologist and researcher, Dr. López de Munain is Associate Professor of Neurology at the University of the Basque Country (UPV/EHU), member of the Tecnalia Health Board and co-founder of 2 start-ups (2019). 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 Biodonostia HRI ana.aiastui@bio-gipuzkoa.eus
Jesús Maria Aizpurua Iparraguirre UPV – EHU jesusmaria.aizpurua@ehu.es
Sonia Alonso Martín CIBERNED sonia.alonso@bio-gipuzkoa.eus
Ignacio Azcue Juaristi  Biodonostia HRI ignacio.azcuejuaristi@bio-gipuzkoa.eus
Maria Pilar Camaño González Biodonostia HRI pilar.camano@bio-gipuzkoa.eus
Alberto Damborenea Moreno Biodonostia HRI alberto.damborenea@bio-gipuzkoa.eus
Amaia Elicegui Aguirre Biodonostia HRI amaia.elicegui@bio-gipuzkoa.eus
Juan Bautista Espinal Valencia OSI Donostialdea juanbautista.espinalvalencia@osakidetza.eus
Roberto Fernández Torrón OSI Donostialdea
Maddi Garciandia Arcelus Biodonostia HRI maddi.garciandia@bio-gipuzkoa.eus
Francisco Javier Gil Bea CIBERNED francisco.gilbea@bio-gipuzkoa.eus
Pablo Iruzubieta Agudo OSI Donostialdea pablo.iruzubietaagudo@osakidetza.eus
Garazi Labayru Isusquiza UPV-EHU
Mariya Levchuck Biodonostia HRI mariya.levchuk@bio-gipuzkoa.eus
Pablo Marco Moreno  Biodonostia HRI pablo.marco@bio-gipuzkoa.eus
Jose Ignacio Miranda Murua UPV – EHU ji.miranda@ehu.es
Laura Mosqueira Martín UPV – EHU laura.mosqueira@bio-gipuzkoa.eus
Francisco José Pan Montojo Puga  Biodonostia HRI franciscojose.panmontojopuga@bio-gipuzkoa.eus
Adrian Pérez Agustín CIBERNED adrian.perez@ciberisciii.es
Oihane Pikatza Menoio Biodonostia HRI oihane.pikatza@bio-gipuzkoa.eus
Juan José Poza Aldea OSI Donostialdea juanjose.pozaaldea@osakidetza.eus
Laura Rodríguez Gómez CIBERNED laura.rodriguez@bio-gipuzkoa.eus
Cristina Ruiz Roldan  Biodonostia HRI cristina.ruizroldan@bio-gipuzkoa.eus
Ángela Sánchez Molleda CIBERNED angela.sanchez@bio-gipuzkoa.eus
Andone Sistiaga Berrondo UPV – EHU andone.sistiaga@ehu.es
Ainara Vallejo Illarramendi UPV – EHU ainara.vallejo@ehu.es
Andrea Valls Rodriguez Biodonostia HRI andrea.valls@bio-gipuzkoa.eus
Julián Zayas Arrabal UPV-EHU julian.zayasarrabal@bio-gipuzkoa.eus

Scientific Output