Principal Investigator: Stig Wergeland
MS-SEQ – elucidating the genetic susceptibility of multiple sclerosis by whole exome sequencing
The cause of multiple sclerosis (MS) is unknown, but there is strong evidence for involvement of both genetic and environmental factors. There is a clear heritability in MS, but the genes and variants involved are largely unknown. GWAS studies have provided some insight by identifying genetic markers (> 200) associated with a modified risk for MS. These have generally small effects and mark loci rather that specific genes. Therefore, the genes and biological pathways involved remain largely unmapped. To overcome this limitation, we aim to sequence the complete coding genome (exome) of a large cohort of patients and controls and apply sensitive analyses methods to understand the role of common and rare genetic variation in MS. Unlike GWAS studies, our design will allow the direct identification of genes and molecular pathways involved in the disease and therefor help identify novel therapeutic targets. We therefore aim to map the entire coding genome (exome) of 2500 MS patients and 3500 controls to elucidate the heritability of MS
The objectives are to identify novel genetic risks of MS and possible biomarkers for diagnosis and disease progression, and further exploit the obtained insight of disease mechanisms to identify novel therapeutic targets.
DNA samples from about 2500 MS patients in the Norwegian MS Registry and about 3000 controls, mainly from the HUSK-study (https://husk-en.w.uib.no/) will be analysed by whole exome sequencing and data will be available for analyses from Q4 2020. We will then analyse the data for possible novel genetic risks of MS or possible biomarkers for diagnosis and disease progression, and further exploit the obtained insight of disease mechanisms to identify possible novel therapeutic targets.
Currently, the study is approved by to the Regional Committee for Medical and Health Research Ethics Western Norway, and contract for collaboration with HUSK and the exome sequencing providers is finalized.
SUPPORT ________________________________________________________________
Participating Centres
- The Norwegian MS Registry
- Haukeland University Hospital
- University of Bergen
Funding
- The Norwegian MS Registry
- The Research Council of Norway, Neuro-SysMed
- Haukeland University Hospital
- University of Bergen