We take advantage of the expertise in our different research groups to obtain new basic knowledge and gain insight into disease processes. In this way we contribute to the development of improved diagnostics and therapy.
Translational biological research focuses on unravelling human biology and disease at the cellular and molecular genetic level. Using this knowledge, we want to contribute to the development of improved diagnostics and disease therapies.
We focus on characterization of the molecular processes and the cellular metabolism in healthy individuals and individuals with inherited diseases or diseases caused by spontaneous mutations such as cancer or amyotrophic lateral sclerosis (ALS).
We use advanced techniques such as next-generation sequencing of RNA to examine the expression of all human genes simultaneously. In this way, we are able to identify specific genes or groups of genes, which are dysregulated in disease.
We apply advanced mass spectrometry (metabolomics) to detect how metabolism is affected in health and disease. We aim at identifying profiles, which can be used in diagnostics or to understand disease pathology. Moreover, we use other techniques such as labelling and sorting of single cells using FACS to characterize and isolate specific cell types.
As part of our research, we culture and examine patient cells and cell lines from different tissues or cancers. Furthermore, we construct small artificial genes where we can introduce mutations and examine their effect. In addition, we apply advanced techniques to turn off specific genes of interest in order to examine their function.
An important step in gene regulation is the mRNA splicing process. One of our main research areas is regulation of mRNA splicing. Our particular interest is to understand how mutations may interfere with mRNA splicing and thereby cause disease.
Small synthetic gene sequences called antisense oligonucleotides (ASOs) have a huge potential as highly specific drugs, because they can bind very specifically to disease genes to alter gene expression. One specific type of ASO called splice-switching oligonucleotide (SSO) has the ability to correct errors in the splicing process. Recently, there has been a major breakthrough in the use of SSOs with the development of an SSO, which dramatically improves the treatment of the severe, inherited disease spinal muscular atrophy. The development of SSOs for treatment of neuromuscular and metabolic diseases as well as cancer is an important goal for us. Moreover, we use SSOs to control the mRNA splicing of specific genes to examine their function.
When necessary we study animal models such as worms or mice to examine if for instance a treatment against cancer is effective. We examine if and how our patented SSOs can suppress different cancers in mouse models.
In recent years, bioinformatics has become very important. This is due to the rapid development in technologies such as mass spectrometry/metabolomics and next-generation sequencing, which generate massive amounts of data. Therefore, bioinformatics is very important in our research, and we use advanced software to analyze our data. We also create our own programs and take advantage of for instance machine learning on the ABACUS supercomputer to predict the effect of mutations.