Project 10

Retinal miRNAs as molecular targets for the treatment of retinitis pigmentosa.

Host institution: Universidad Católica de Valencia San Vicente Mártir
PhD: Yes
Duration: 36

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited diseases that damages photoreceptors and leads to blindness.


Gene therapy is the approach that has had the best effect to date to treat RP. However, this type of approach requires individualized and tailor-made patient treatment, due to the great heterogeneity of mutations that we found. In this project we present a modification to traditional gene therapy, in which the objective is not to replace the afunctional gene, but rather that the target molecules are miRNAs. This treatment could be efficient in different mutations.

Recently, the transcriptome of miRNAs of the human retina has been analyzed. It was observed that 480 miRNAs were expressed, of which 17% were specific for the retina. The study of miRNAs in animal models of RP has been very useful to reveal some of the miRNAs that could be related to the mechanism of cell death of photoreceptors. The main objective of the present project is to carry out a comparative study of the profile of miRNAs in aqueous humor of RP and healthy patients and to compare them with the retinal miRNoma in an animal model, the rd10 mouse, and its healthy counterpart. After the comparative study, those miRNAs that are altered in human and animal models will be chosen and used as possible molecular targets.


The miRNoma of patients and animals will be sequenced and analyzed. Matching deregulated miRNAs will be added to rd10 retinal organotypic cultures. The combination with the best results will proceed to the in vivo phase of the study: subretinal injections in rd10 mice.


Expected results

  1. miRNoma of RP patients and animal model for RP
  2. Selection of deregulated miRNAs in the disease
  3. Potential RNA therapy

Planned secondments

  1. AP7, supervisor: Beatriz Llamusí
    Purpose: business training
  2. B5, supervisor: Serdar Durgar
    Purpose: bioinformatics
  3. B8, supervisor: Sandro Banfi
    Purpose: Training in sequencing RNA
  4. Host: B7, supervisor: Aileen Murphy
    Purpose: economic training