Research Highlights - Baltimore Center, United States

Work at the Hopkins center has focused on genomic and proteomic markers of SCD. Genome-wide association led by Hopkins faculty identified NOS1AP (encoding Capon) as a modulator of the QT interval. Cohorts being build for further analyses include the Sudden Unexpected Death Syndrome group (in collaboration with workers in Portland Oregon); patients receiving ICDs for primary prevention of SCD; and patients with adjudicated SCD in large NIH-sponsored trails with DNA available. In parallel, basic science work is aimed at discovering mechanisms by which new genes and pathways modulate SCD risk.

The specific role of the Hopkins Center in the Network is three fold:
1) we serve as the only resource within the Network with the capability to evaluate, at a fundamental cellular level, the electrophysiological consequences of the gene influences being sought in all of the other centers;
2) we provide access to a unique and continuously expanding cohort of implantable defibrillator patients rigorously phenotyped and followed for sudden death events; and
3) we provide access and expertise in the identification of new genetic and genomic approaches capable of dissecting genetic influences that result in SCD susceptibility.