Causes of MS and MG. Search for susceptibility factors of multiple sclerosis and myasthenia gravis

Background: Multiple sclerosis (MS) is a presumed autoinflammatory disorder of the central nervous system. Myastenia gravis (MG) is also an autoimmune neurologic disease, affecting the Achetyl choline receptor (AChR) postsynaptic in the muscle-nerve junct ion. Common for both diseases is that the causes of the autoimmune mechanisms are unknown, but both genes and environmental factors are presumed to contribute to the development of the disease. Identification of the susceptibility factors will help us ide ntify the mechanisms of these diseases and new ways of treatment. Aim: The main objective in this study is to identify causes of MS and MG and hereby contribute to better treatment. We will perform HLA typing, genome wide association studies (GWAs) and c andidate gene studies on Norwegian MS and MG sample collections as a part of national and international collaborations and correlate these results with clinical variations in translational studies. Methods: We will study established Norwegian collections of DNA samples and clinical data from close to 2000 MS patients, 200 MG patients and 1400 healthy controls. DNA is amplified by PCR using selected gene markers. We use the ABI-3770 sequencer, TaqMan technology or Illumina 5-10k SNP chips at laboratories i n Norway, UK and USA. We use standard methods of statistics in the interpretation of clinical and genetic analyses. Scientific applications: This research project applies for research salary for the project leader, dr. med. Hanne F. Harbo (MD, PhD). The p roject is an extension of running studies in one of the leading complex neurogenetic research groups in Norway, collaborating extensively both nationally and internationally. This study includes projects incorporated in five different ongoing PhD projects supervised by the applicant (three of which Harbo is the main supervisor, two co-supervisor), giving rise to original translational research data at the cutting edge of complex neurogenetics.