Neurogenetics, RNA biology and therapies – NeuroRNA

Group co-leader: Dr. Lorea Blázquez

Biogipuzkoa HRI, Ramón y Cajal and Ikerbasque Fellow E-mail LOREA.BLAZQUEZGARCIA@bio-gipuzkoa.eus

Group co-leader: Dr. Pablo Iruzubieta

Biogipuzkoa HRI, Neurology specilist E-mail PABLO.IRUZUBIETAAGUDO@osakidetza.eus
Dr. Blázquez is an Ikerbasque and Ramón y Cajal researcher, with more than 20 years of research experience in 7 national and international centers. Her line of research focuses on understanding deregulation of RNA processing in the context of neurological diseases in order to identify targets for the development of new diagnostic and therapeutic approaches. Dr. Iruzubieta is a neurology specialist and medical doctor, combining clinical care with translational research, with a special interest in the genetic and molecular bases of neurological diseases. He has completed stays in several international laboratories and his research work focuses on the study of new genetic causes, new mechanisms involved and new therapeutic targets in genetically based neurological diseases.

Strategic objectives

The main objective of the group is to understand the molecular bases of neurological diseases to develop new diagnostic approaches and personalized therapies. Specifically, the group focuses mainly on the identification and functional validation of genetic variants and on studying alterations in RNA processing that occur in the context of various neurological diseases in order to advance the diagnosis, prognosis and development of personalized therapies for these diseases.

Main lines of research

The research group “Neurogenetics, RNA biology and therapies” has a transversal approach in the area of neurosciences, leading and collaborating in projects related to other lines of the area:

  • Neurodegenerative diseases
    • Development of an antisense RNA therapy for frontotemporal dementia due to progranulin deficiency
    • Characterization of alterations in RNA processing in TDP43 proteinopathies and Huntington’s disease
    • Genetic and clinical characterization of patients with undiagnosed cerebellar ataxia and spastic paraparesis.
  • Brain tumors
    • Identification of alterations in RNA processing in high-grade gliomas for the development of new therapeutic and diagnostic strategies.
  • Neuromuscular diseases
    • Clinical characterization and molecular basis of muscular dystrophy due to mutations in Snurportin
    • Characterization of alterations in RNA processing in muscular dystrophies
  • Diagnosis and treatment of neurogenetic diseases
    • Development of functional studies for characterization and classification of variants of uncertain significance.
    • N=1 personalized medicine therapy strategies based on RNA therapies in neurogenetic diseases.

Team Members

Name Surname Center E-mail
Josune Alonso Martinez de Marañón Biogipuzkoa HRI JOSUNE.ALONSOMARTINEZDEMARANON@bio-gipuzkoa.eus
Ane Velasco Bilbao Biogipuzkoa HRI ANE.VELASCOBILBAO@bio-gipuzkoa.eus
Ane Rubio Zulaika Biogipuzkoa HRI ANE.RUBIOZULAIKA@bio-gipuzkoa.eus
Alberto Damborenea Moreno Biogipuzkoa HRI ALBERTO.DAMBORENEAMORENO@bio-gipuzkoa.eus
Laura Pérez-Fernández Biogipuzkoa HRI LAURA.PEREZFERNANDEZ@bio-gipuzkoa.eus
María Manterola Larrañaga Biogipuzkoa HRI MARIA.MANTEROLALARRANAGA@bio-gipuzkoa.eus
Álvaro Herrero Reiriz Biogipuzkoa HRI ALVARO.HERREROREIRIZ@bio-gipuzkoa.eus
Inés Albajar Gómez Donostialdea IHO INES.ALBAJARGOMEZ@osakidetza.eus
Nerea Bastida Lertxundi Donostialdea IHO NEREA.BASTIDALERTXUNDI@osakidetza.eus
Raquel Saez Villaverde Donostialdea IHO RAQUEL.SAEZVILLAVERDE@osakidetza.eus
Julien Swen Crettaz Donostialdea IHO JULIENSWEN.CRETTAZ@osakidetza.eus

Scientific Output

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 €
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 €