Sensorial Neurodegeneration

Group co-leader: Cristina Irigoyen Laborra, Ph.D.

OSI Donostialdea E-mail cristina.irigoyenlaborra@osakidetza.eus

Group co-leader: Javier Ruiz Ederra, Ph.D.

UPV-EHU E-mail javier.ruize@ehu.eus
Dr. Cristina Irigoyen Laborra has a Degree in Medicine earned at the University of Navarra. Having specialised in Ophthalmology at Deusto University Hospital (Donostialdea IHO) in 2009 and obtained the EBOD (European Board of Ophthalmology) and ICO (International Council of Ophthalmology) certificates, she completed a fellowship in vitreoretinal surgery at the Royal Liverpool University Hospital. She has a PhD from the University of the Basque Country (UPV/EHU) and is Professor at the UPV/EHU Faculty of Medicine. Today she works at the Donostia University Hospital and at the Policlínica Gipuzkoa in San Sebastián, in the sub-speciality of medical and surgical retina. She is Leader of the Sensory Neurodegeneration Research Group at the Biodonostia HRI and dedicates a great part of her care and research work to the study of hereditary retinal dystrophies. Javier Ruiz Ederra is a Permanent Doctor Researcher at the Department of Dermatology, Ophthalmology and ENT of the University of the Basque Country (UPV/EHU), and Principal Investigator at IIS Biodonostia, where he co-leads the Sensory Neurodegeneration group. He holds a PhD in Cell Biology from the University of the Basque Country (2004) and has postdoctoral experience at the University of California, San Francisco (2004-2009). He is the author of 27 scientific publications and inventor of a licensed patent (EP22382594). He is a partner in the spinn off Miramoon Pharma and has carried out intense research transfer activity through a Torres Quevedo contract (2021-2022). He is currently supervising 4 doctoral theses, having supervised another 4. He is a Visiting Professor at the Francisco de Vitoria University (Madrid). He participates in scientific dissemination activities for high school students and associations of patients with hereditary retinal dystrophies.

Aims and lines of research

Vision is one of the human being’s main sensory skills. The Research Group is focusing its study on diseases that affect our sense of sight, with Retinitis Pigmentosa as its main line of research.

Retinitis Pigmentosa is the most common inherited retinal degenerative disorder, with a worldwide prevalence of approximately 1 in every 4000 individuals. It is characterised by progressive dysfunction associated with the loss of rods and/or cones leading to atrophy of the retina and loss of vision. There is wide genetic heterogeneity within Retinitis Pigmentosa with over 80 genes identified to date. Most cases are monogenic and the genetic causes of approximately 35% of Retinitis Pigmentosa cases are currently unknown. Their molecular characterisation represents a real challenge. From a therapy point of view, there is no standardised, effective treatment for this eye disease right now but the discovery of molecular causes has allowed different trials to be designed on animal models and more recently on humans, with promising results.

Another area of study focuses on cataracts that represent the main cause of loss of vision in people over 55 years old worldwide. This is a multi-factor process where modifications to the structural crystalline proteins bring about aggregation, fragmentation and precipitation processes leading to the cataract forming. Right now, the only effective treatment is surgery. This is one of the most frequent outpatient surgeries carried out in industrialised countries and the most common outpatient procedure in Spain where over 260,000 cataract operations are performed each year, costing over 260 million Euros/year.

Furthermore, working with pharmacometric and software companies, the Research Group is developing computer simulated predictors of ocular pharmacodynamics in order to predict how drugs will behave in the eye as an alternative to experimenting on animals.

Main lines of research

  • Molecular diagnosis of patients with Retinitis Pigmentosa using high-throughput screening techniques (HRM and DNA arrays) and Next Generation Sequencing (targeted sequencing using panels of Retinitis Pigmentosa genes and/or Whole Exome Sequencing, WES).
  • Studies on Retinitis Pigmentosa mouse models.
    • Elements regulating the gene expression (microRNAs; (microRNAs, lncRNAs etc.).
    • In vitro and in vivo gene transfer assays.
  • Molecular study of molecular pathways involved in cataract development factors.
    • Implication of aquaporins 1 and 5 in cataract development.
    • Study of risk factors for posterior capsular opacification after cataract surgery (secondary cataract).
  • Development of computer simulated predictors for ocular pharmacodynamics.

Team Members

Name Surname Center E-mail
Arantxa Acera Osa UPV-EHU arantxa.acera@bio-gipuzkoa.eus
Txomin Alberdi Ibarloza Donostialdea IHO txomin.alberdiibarloza@osakidetza.eus
Lucía Bascarán Oteiza Donostialdea IHO lucia.bascaranoteiza@osakidetza.eus
Leire Juaristi Eizmendi Donostialdea IHO leire.juaristieizmendi@osakidetza.eus
Araceli Lara López Biodonostia HRI araceli.lara@bio-gipuzkoa.eus
Itziar Martínez Soroa Donostialdea IHO itziar.martinezsoroa@osakidetza.eus
Javier Mendicute del Barrio Donostialdea IHO javier.mendicutedelbarrio@osakidetza.eus
Iraia Repáraz Bonilla Biodonostia HRI iraia.reparaz@bio-gipuzkoa.eus
Iñaki Rodríguez Aguirreche Donostialdea IHO ignacio.rodriguezaguirreche@osakidetza.eus
María Rodríguez Hidalgo Biodonostia HRI maria.rodriguezhidalgo@bio-gipuzkoa.eus
Miguel Ruiz Miguel Donostialdea IHO miguel.ruizmiguel@osakidetza.eus
Miren Nekane Sarasola Gastezi Biogipuzkoa HRI mirennekane.sarasolagastesi@bio-gipuzkoa.eus

 

Scientific Output

REGENERACIÓN TISULAR BASADA EN BIOMATERIALES RICOS EN FACTORES DE CRECIMIENTO PARA SU USO EN OFTALMOLOGÍA (KERAMNIOGEL) 3ª ANUALIDAD
Código: 2023333010
Investigador Principal (IP): JAVIER MENDICUTE DEL BARRIO
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2023-01-01
Fecha de finalización: 2023-12-31
Importe Concedido: 27.553,50 €
BIOMARCADORES DE ENFERMEDADES NEURODEGENERATIVAS EN LAGRIMA, HACIA EL DESARROLLO DE UN SISTEMA DE DIAGNOSTICO POINT OF CARE. BIONED
Código: KK-2021/00023
Investigador Principal (IP): IÑAKI RODRIGUEZ AGUIRRECHE
Entidad Financiadora: DEPARTAMENTO DE DESARROLLO ECONOMICO, SOSTENIBILIDAD Y MEDIO AMBIENTE
Fecha de Inicio: 2021-06-01
Fecha de finalización: 2023-06-30
Importe Concedido: 39.669,04 €
DESARROLLO DE ALGORITMOS DIAGNOSTICOS EN PACIENTES CON DISTROFIAS HEREDITARIAS DE LA RETINA DEL PAIS VASCO, BASADOS EN EL SECUENCIADO DE UN PANEL DE GENES (NGS DIRIGIDO) Y DEL GENOMA (WGS)
Código: PI20/01186
Investigador Principal (IP): CRISTINA IRIGOYEN LABORRA
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2021-01-01
Fecha de finalización: 2025-06-30
Importe Concedido: 123.420,00 €