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Genomic research in patients with an initial schizophrenic episode: identification of genetic and pharmacogenetic markers

14th national competition for scientific and technical research

Genetic and pharmacogenetic markers

Senior Researcher : Benedicto Crespo-Facorro

Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander.

Abstract

Schizophrenia is a serious mental disorder that affects 1% of the population. This disease has a marked effect on the quality of life of the patients, their families and caregivers. Conventional pharmacological treatment consists of the use of antipsychotic and neuroleptic drugs that essentially block a brain neurotransmitter called dopamine. However, 40% of schizophrenic patients do not respond well to this medication and medication with these drugs carries undesired side effects that lead to abandonment of the treatment in a high percentage of cases. These two aspects (lack of response and the appearance of side effects) lead to abandonment of the treatment, with the subsequent relapses and worsening of the disease prognosis. The reasons for the success or failure of antipsychotic drugs have not been clearly established, although it is thought that the variability of certain genetic factors contributes to determining the drug's results. The crucial aspect of clinical research into schizophrenia lies in describing the individual genetic factors of each patient, employing advanced microarray and genotyping techniques, to establish a positive response to the pharmacological treatment and/or the appearance of undesired side effects. Which treatment would be best for each individual? Would it be possible to determine the risk of undesired side effects associated with the treatment beforehand? Is it possible to establish, through genomic research, highly effective individualised treatments? The main purpose of this study is to identify genetic components of schizophrenia and response to pharmacological treatment, employing strategic innovators and a single clinical sample that will enable its research. This would make it possible to establish, prior to commencement of the treatment with antipsychotics, the possibilities of the patient's improvement, with which we could select the most suitable treatment, resulting in the subsequent improved prognosis. This information would serve to establish the disease's genetic markers and pharmacogenetic markers that would make it possible to predict the therapeutic response, prior to initiating the treatment. We can affirm that this type of research constitutes, or will constitute, a platform for progress in the coming years, enabling us to improve the treatment and, therefore, the prognosis of diseases that are traditionally as devastating, for patients and their families, as schizophrenia.

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