Børglum Group - Genetic studies

Evaluation of genetic variation of the sortilin related genes in susceptibility to major psychiatric disorders.

Research focus

The research concerns identification and functional characterization of genes involved in complex disorders with a main focus on psychiatric disorders.

Large sample sets including thousands of individuals from national biobanks, multiplex families, trios, twins and isolated populations are studied, using cutting edge approaches such as GWAS, whole genome and exome sequencing. Epigenetic mechanisms and gene-environment interplays are also important aspects of the studies performed.

The above approaches and samples are utilized in order to unravel the role of the sortilin-related genes in susceptibility to major psychiatric disorders. This includes analyses of all common genetic variation in these genes in large national and international cohorts with e.g. schizophrenia, bipolar disorder and ADHD. Furthermore, to identify rare variants that may convey a stronger effect on disease risk, we perform next-generation sequencing of the genes in a selection of cases and healthy controls.

The overall aim is to increase the aetiological and pathophysiological understanding in order to provide a basis for better diagnosis, treatment and prevention of the disabling and severe disorders investigated.