On a path to precision child health cardiovascular medicine, the Neonatal/Congenital Heart Program consists of three major complementary research projects:
I. Congenital Heart Defects Genetics & Genomics
Developmental and structural abnormality of the heart affect approximately 1% of live births and is a major source of childhood morbidity and mortality. The underlying mechanism is known to be multifactorial, involving genetic, epigenetic and/or environmental contributors. However, the majority of CHDs are yet to be clearly diagnosed for the underlying causing factors, and even less with effective therapies. Therefore, a clear dissection of the underlying mechanism is the most powerful step to establish individualized preventive strategies and patient tailored therapies. To that end we Implemented a systems based approach to investigate congenital heart defect mechanism as a continuum from phenotypic characterization in the clinic, to molecular genetic dissection at the bench. Our team integrates the power of next generation sequencing platforms, including family-based Exome sequencing and RNA-seq data, to identify novel candidate genetic variants, environmental causes and to test their potential interactions in zebrafish and patient specific cell line. Ultimately, our goal is to identify new diagnostic and preventive approaches for congenital heart defects.