Lars Feuk – Genetic variation and gene expression in human disease

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Photo: Marcus Marcetic

The aim of our research is to understand the importance of genetic variation and gene expression in human neurodevelopmental disorders. We are using high throughput sequencing combined with bioinformatic analyses to characterize genetic variation and its correlation with functional data and disease outcomes. The research ranges from very basic studies of genetic variation and transcription to disease specific analysis.

Studies of human disease are mainly focused on neurodevelopmental disorders, including intellectual disability and schizophrenia. We aim to capitalize on the development of the latest sequencing technologies to identify new causative mutations. Our samples include large pedigrees, parent-offspring trios and patient tissue samples, and we are using different analysis strategies to mine DNA and RNA sequencing data for potential causative mutations.

We are also interested in better understanding the process of transcription and RNA processing in human cells. Using data from RNA sequencing, we are investigating the subcellular localization of different transcripts and exploring the role of circular RNA in human cells.

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Sources of funding


Last modified: 2022-09-01