Genetics for early life risk screening

Coronary atherosclerosis may begin in adolescence for some individuals, but current guidelines delay initiation of preventive therapies until the 5th decade of life or beyond. This approach fails to prevent early heart attacks. Can we identify who is on a trajectory of accelerated atherosclerosis early in life and initiate primary and primordial prevention sooner? We are working to develop methods to identify high risk patients and families using both common variant and rare variant assessments with a focus on addressing disparities in precision medicine.

No data left behind

Electronic health records and medical images are rich with information. Yet, the risk models used in current clinical practice only use single timepoint measurements and rarely incorporate imaging. When imaging is used, we rely on phenotypes defined decades before the era of big data. Can we improve risk prediction using longitudinal health data, medical images, and novel phenotyping?

Multi-omics for therapeutic discovery

Classic GWAS continues to identify more and more genomic loci associated with disease. Yet translating such associations into real biologic insights and new medicines remains a long and laborious process. Can we accelerate drug development by using approaches that home in on specific protein and metabolite effects? We use large-scale sequencing data to identify the rare protein-altering variants that impact disease, and we compliment this approach with proteomic, metabolomic, and biomarker based Mendelian randomization and PheWAS to ilucidate molecular pathways of disease.