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

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.