INTRODUCTION
Mental disorders are very frequent in population and represent an important burden for patients and family, as they are very often chronic and recurrent. The origin of mental disorders involves multiple biological, psychological and social factors, all of which of relevance. The Psychiatric Genetics group of the Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), led by Javier Costas, is focused on the study of biological factors, specifically genetic factors, which increase individual susceptibility to suffer a psychiatric disorder. The main contribution to genetic susceptibility is due to many common variants along the genome of very low individual effect on risk, although there are as well as rare variants of susceptibility, which may have greater effect. Due to the very limited effect on the risk of suffering from a disorder conferred by each common variant, its utility in risk prediction in isolation is null. However, it is possible to estimate the individual genetic risk of suffering from a disorder by combining different variants in polygenic risk scores (PRS). Identification of genetic risk factors, and their interaction with environmental factors, will lead to better understanding of the biological basis of mental disorders, and will improve diagnosis, prognosis and management of patients, as a consequence of stratification in more homogeneous subgroups.
Now that precision medicine is beginning to be applied to other medical specialties, our research group seeks to ensure that patients with mental disorders can similarly benefit from genomic medicine, helping to eradicate the existing discrimination towards these people.
The main lines of research of the Psychiatric Genetics lab are:
Creation of polygenic risk score models with clinical utility.
Identificacion of rare variants of greater effect on psychiatric risk.
Identification of functionally -related gene sets enriched in susceptibility variants.
Study of genetic susceptibility shared by different psychiatric disorders.
Pharmacogenetics of antipsychotics.
Gene x Environment interaction in susceptibility to psychiatric disorders.
We are focused mainly on schizophrenia and alcohol and other substance use disorders, but, taking into account that genetic susceptibility is shared among the different psychiatric disorders, we also study other disorders, such as bipolar disorder, major depression or autism spectrum disorders.
The Psychiatric Genetics lab is part of:
Researh Network on Primary Health Care in Addictions (RIAPAd)
Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)