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USH|R Guest Research Blog, Part III: Diagnostic and Therapeutic Research in Spain

December 21, 2015

Research Group on Molecular, Cell and Genomic Biomedicine. University Hospital La Fe, Valencia, Spain

by José M. Millán, PhD

Our research is focused on two main points:

  1. Diagnosis: We have implemented a diagnostic tool based on Next Generation Sequencing (NGS) that allow us to screen a patient for mutations in all the known Usher genes in a short time and at a reasonable cost. In this way we can identify the mutations responsible for the disease in 70-80% of the patients.

In those patients in whom we are not able to detect mutations in the USH genes, we carry out a Whole Exome Sequencing (WES). WES aims to identify novel genes related to the disease by sequencing the whole coding region of our genome, that is the part of our genome that produce proteins (only a 1.5% of our genome but contains the 85% of the mutations that cause human disease)

  1. Therapy: We are testing the effect of a monoclonal antibody on the reduction of oxidative stress, inflammation and photoreceptor death in a mice model of retinitis pigmentosa (RP). In this mice model the results are very promising. In essence, our hypothesis is that oxidative stress and inflammation are the main cause of the progression of RP as they induce the loss of the cone photoreceptors leading to the loss of visual acuity and central vision. We believe that the reduction of these processes will result in a slowing down of the disease.

We are also conducting a follow up study on RP patients (Usher and no Usher) that are taking a vitamin + antioxidants cocktail developed in collaboration with the Faculty of Pharmacy of the University of Valencia. It is a two-year study and the objective is to check whether the cocktail leads to a significant reduction in the progression of the disease.

Currently, promising new therapeutic approaches for the treatment Usher syndrome and retinitis pigmentosa are under investigation. These approaches need to be tested in clinical trials and some of them will be based on genetic (and phenotypic) characteristics.

A registry of Usher syndrome patients will facilitate a list of affected with Usher syndrome for possible clinical trials, helping to identify affected individuals suitable for testing. It also allows to contact and inform them quickly when there is a trial in which one might be interested.

With the help of the International Usher Syndrome Registry, patients can also be informed about new treatments that may be of interest to them, and give scientists important information about the real prevalence of Usher syndrome.

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