Group co-leader: Lorea Blázquez García, Ph.D.

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

Group co-leader: Pablo Iruzubieta Agudo, M.D., Ph.D.

Biogipuzkoa HRI E-mail pablo.iruzubietaagudo@osakidetza.eus

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.