Our group is involved in the identification of genes implicated in psychiatric diseases, and the development of novel methods applied to translational medicine using genomic approaches. Family studies have established a strong genetic contribution to psychiatric diseases, but the specific genes involved still remain largely unknown. Psychiatric disorders are caused by a combination of common variants, each with a small effect, and multiple rare variants of higher penetrance. Our aim is to identify susceptibility genes implicated in bipolar disorder and other psychiatric conditions by performing genomic approaches via next-generation sequencing (NGS): whole-exome sequencing, whole-genome sequencing and RNA-sequencing. In our studies we combine NGS with evidence from genome-wide association studies (GWAS) and fine-mapping approaches.
Recently, we established a novel Spanish node for psychiatric genetics with clinicians at Fundación Jiménez Diaz, and founded the Madrid Manic Group (MadManic) that brings together geneticists, bioinformaticians, and psychiatrists aiming to develop novel translational tools applied to clinical practise that combine genomic risk from high-throughput arrays, digital records from ecological momentary assessment (EMA) devices, and machine learning approaches. We established one of the largest cohort in Spain of psychiatric patients (bipolar disorder, suicide, and schizophrenia) and controls with a biobank of biospecimens (DNA, RNA, and plasma) for genomics, transcriptomics and metabolomics. Concomitantly, we rely on clinical records from an extended electronic protocol centralised amongst psychiatric hospitals that collect data on clinical presentation and history of patients, response to medications, and several clinical and behavioural scales. These instruments are used for novel approaches in translational psychiatry.