Human genetics

Human genetics and the rate limiting step: phenotypes

We have an active human genetics effort based in the Cardiovascular Clinical Genetics Center, the Brigham Genomic Medicine group and the national Undiagnosed Diseases Network. In addition to traditional genomic approaches to gene discovery in disease families, we also have developed a Next Generation Phenotyping platform in our ambulatory clinics that is designed to test and validate new technologies bringing cell biology or physiology to the bedside. Many human diseases have arisen as clusters of unrelated disorders that share only some gross cardiac phenotype. We have begun to stratify these disorders and understand the mechanism using non-cardiac phenotypes through approaches as diverse as facial recognition, wearables and short term drug responses.