Lars Feuk's research projects – Genetic variation and transcription in human disease

Whole genome sequencing of patients with neurodevelopmental disorders

Adnan Niazi, Jin Zhao, Eva Carlström, Lars Feuk
To sequence all the coding regions of a genome in a single experiment is a powerful tool to discover disease genes. In this project, we are mainly focusing on two groups of patients to identify causative mutations. First, in collaboration with the clinical genetics unit, we are investigating patients with severe intellectual disability for de novo mutations by whole genome sequencing of both parents and the patient. The second approach is to use pedigrees with multiple affected individuals to identify mutations in regions of linkage or shared homozygosity.
 

Transcriptome analysis in brain tissue

Ammar Zaghlool, Mitra Etemadikhah, Adnan Niazi, Eva Carlström, Lars Feuk
Transcriptome sequencing is providing novel insights into the transcriptional landscape of cells and tissues. In this project, we use RNA sequencing to study transcription in human tissue samples. We have established a collection of post-mortem brain tissue samples from schizophrenia patients and matched controls that we are characterizing with regard to gene expression, genetic variation and methylation.

In a second project, we are investigating basic research questions about the transcriptome and specific types of transcripts. We are investigating subcellular fractions of RNA in order to characterize specific transcripts that are overrepresented in the nucleus or the cytosol of the cell. In another project, we are developing new methods for investigation of a novel class of transcripts called circular RNA, and we are exploring the role of circular RNA in brain tissue and in neurodevelopmental disease.