The main focus of my work is to use sequencing technologies to study disorders related to development of the brain. The primary focus is on intellectual disability and schizophrenia. We combine traditional molecular genetics with DNA and RNA sequencing and bioinformatics to identify causative genes and to better understand the impact of mutations at the level of gene expression. As part of these projects we also work in close collaboration with the genetic diagnostics unit at the Akademiska Hospital, and we have an interest in how clinical diagnostic testing can be improved.
We also use the data from our experiments to study basic research questions related to genome variation and transcription. An area of recent interest to us is the mechanisms of splicing in human cells and how RNA at different levels of maturation is distributed in the cell.
Eva Lindholm Carlström, Researcher
Ammar Zaghlool, Post doc
Jonatan Halvardson, PhD student
Jin Zhao, PhD student
Varma Saripella, Student
Mitra Etemadikhah, Student