Dr. Gaffney and his research team are primarily focused on answering the fundamental question, ‘how does genotype influence phenotype in human disease?’. Specifically, they are focused on characterizing the regulatory functions that control gene expression within the complex landscape of the three-dimensional genome and how genetic variations influence these regulatory functions to cause autoimmune diseases such as systemic lupus erythematosus (SLE).
Dr. Gaffney has contributed significantly to the genome-wide linkage scans, expression arrays, genome-wide association studies (GWAS), and ongoing fine-mapping studies that have prioritized genetic alleles associated with SLE risk for future mechanistic studies. His expertise in human genetics and strong leadership skills have established a strong research team that aims to chart the path from genotype to phenotype in the post-GWAS era by developing innovative epigenome-guided approaches combined with high-throughput single cell sequencing technologies.
In addition to his interests in understanding the mechanisms of complex genetic diseases, Dr. Gaffney and his collaborators at OMRF and OUHSC also use high-throughput sequencing technologies to identify rare genetic mutations that cause rare Mendelian disorders.
To learn more about Dr. Gaffney’s specific research interests, please select from the following: