A major focus of the lab is to define associations of genetic polymorphism of immunogenetic loci with neurological disease and interpret these in the context of molecular structure and function. We have a long-running, large, multicenter project that has considered multiple sclerosis, myasthenia gravis, neuromyelitis optica, Parkinson’s disease and neuropsychiatric disorders that has implemented high-throughput, high-resolution immunogenetic genotyping with next-generation sequencing methods and applied across a set of established and well-characterized cohorts of unprecedented size and diversity with respect to disease, phenotype and ancestry. Central to immunity and critically important for human health, the immune receptors of interest in this work are encoded by complex genetic systems with extraordinarily high levels of sequence and structural variation and complex expression patterns. Application of modern sequencing methodologies coupled with state of the art bioinformatics and analytical approaches, permits us to fully appreciate the impact of this variation across a wide range of neurological diseases.

Project includes:

1. HLA and KIR associations with PANS
2. HLA and KIR associations with MS
3. MS genetic risk variant identification and functional interpretation