The MuSK Myasthenia 1000 study aims to collect saliva samples for DNA analysis from 1000 patients with muscle specific antibody positive myasthenia gravis. These DNA samples are then used in development of a genome-wide association study (GWAS).
Genome-wide association studies (GWAS) would be highly likely to allow us to identify genes associated with a MuSK myasthenia. Knowing genes putting patients at risk will tell us more about how the disease may start and then potentially better ways to identify people at risk and treat the disease.
GWAS has been used in other forms of MG to understand the disease better, but never in MuSK MG. This would be the first such study.