A large portion of Dr. Kaufman's research career has been on the genetics of systemic lupus erythematsus. Their work has screened 10's of thousands of lupus cases and controls with millions of polymorphic markers. This work has resulted in the identification, replication and/or fine mapping of over 70 genetic associations with systemic lupus erythematsus.
Recently, they have taken advantage of next generation DNA sequencing to identify variants that directly cause disease. They have developed a number of bioinformatic pipelines that can be applied to any phenotype. These automated pipelines are part of the Cincinnati Analytical Suite for Sequencing Informatics (CASSI) which has been applied to more than 20 different diseases and provides a list of candidate causative variants that lead to disease.
Professor, UC Department of Pediatrics