Investigating the role of disruptive exonic genetic variants in loci associated with neuropsychiatric disease.
Principal Investigator: Dr Miguel Renteria
Approved Research ID: 28142
Approval date: May 1st 2017
Dozens to hundreds of genetic variants have recently been associated with neuropsychiatric diseases such as schizophrenia, multiple sclerosis or Alzheimer?s disease. The proposed project is aimed at investigating the role of disruptive exonic variants in loci associated with both rare and complex neuropsychiatric disorders, using genome-wide and phenome-wide approaches. We hope that by taking a genotype-first approach, we will be able to discover new relationships among diseases, and between disorders and other clinical, cognitive and behavioral phenotypes. Ultimately, our aim is to identify potential new therapeutic targets. Our project meets the goal of the Biobank in that it seeks to improve the prevention, diagnosis and treatment of brain diseases by gaining an increased understanding of their genetic basis. In recent years, our understanding of the genetic architecture of neuropsychiatric disorders has experienced major progress, with hundreds of associated genetic loci identified through GWAS. Phenome-wide association (PheWA), is an approach for investigating the complex networks that exist between human phenotypes and genetic variation, through testing a series of SNPs for association with a large and diverse set of phenotypes. The proposed research will investigate the role of non-synonymous mutations in genes located in disease-implicated genomic regions, and test for their association with multiple disease diagnoses and complex traits. We are applying for data from the full cohort, including genetic data.