Biological interpretation of psychiatric genomics findings

Genome-wide association studies (GWAS) have revealed hundreds of loci associated with complex brain disorders, but tying the loci to biological context is still unclear.

In collaboration with principal researcher Jens Hjerling-Leffler and his group, we integrate GWAS findings with single-cell transcriptomics data to achieve more comprehensive biological interpretation of the genetic risk loci of complex brain disorders. This includes the transcriptomics and genomic comparisons between schizophrenia cases and controls. We also aim at revealing the critical cell types where the genetic risk loci are active. Using mouse nervous system data, we have identified critical cell types in the cortex, forebrain, and hippocampus underlying brain complex traits. [Skene et al, 2018 and Bryois et al 2020). Our current focus is on identifying disorder-relevant brain cell types in human brain.

Genetic identification of brain cell types underlying schizophrenia.
Skene NG, Bryois J, Bakken TE, Breen G, Crowley JJ, Gaspar HA, Giusti-Rodriguez P, Hodge RD, Miller JA, Muñoz-Manchado AB, O'Donovan MC, Owen MJ, Pardiñas AF, Ryge J, Walters JTR, Linnarsson S, Lein ES, , Sullivan PF, Hjerling-Leffler J
Nat Genet 2018 Jun;50(6):825-833

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
Bryois J, Skene NG, Hansen TF, Kogelman LJA, Watson HJ, Liu Z, , , , Brueggeman L, Breen G, Bulik CM, Arenas E, Hjerling-Leffler J, Sullivan PF
Nat Genet 2020 May;52(5):482-493

Anna Berglund