Human Genetics

Our discovery research is anchored in human genetics

We apply large-scale genotyping and sequencing to discover alleles that confer risk of rheumatoid arthritis (RA) and other immune-mediated diseases.  Through international collaborations, we have ongoing projects to perform a multi-ethnic genome-wide association studies (GWAS) to discover new RA risk loci and fine-map the causal alleles of established loci.  Further, we have projects to sequence all genes discovered by GWAS, with the goal of uncovering an allelic series of risk alleles (from common to rare) that can inform on the underlying biology of RA.

We have a number of other projects in various stages of development, including: whole genome sequencing in consanguineous families from the Middle East in which multiple family members have RA; sequencing disease tissue to search for somatic mutations and immune repertoires that track with disease phenotypes such as risk, response to therapy, and clinical heterogeneity; genotyping & sequencing samples linked with electronic medical record (EMR) data to explore unexpected genotype-phenotype relationships; and online patient registries to recruit patients with arthritis for discovery genomic studies (in collaboration with the Arthritis Foundation, National Databank for Rheumatic Diseases, Quest Diagnostics, Broad Institute, and Ginger.io).

OTHER LINKS

Please visit these websites to learn more about different
aspects of our projects.