Project Details

Early Career

Status: Funded - Open

Genome-wide dissection of Mendelian predisposition to acute viral myocarditis in children

Serkan Belkaya, Ph.D.


BACKGROUND: Acute myocarditis is the most common cause of heart failure in otherwise healthy children, and most cases of this disease result from infection with viruses. It remains poorly understood why some children develop life-threatening acute viral myocarditis, whereas the majority remains healthy despite being exposed to the same viruses during the life span.

GAP: Other severe infectious diseases of childhood have been shown to result from single-gene inborn errors of immunity. The involvement of human genetic factors in the progression of viral infection to heart failure is unknown.

HYPOTHESIS: I hypothesize that heart-intrinsic single-gene defects may underlie the molecular and cellular immunological basis of childhood acute viral myocarditis. The goals of this study are (i) to discover AVM-causing genetic lesions in otherwise healthy children, and (ii) to characterize the molecular and cellular immunological impact of identified morbid mutations.

METHODS: The proposed study is designed to follow a strategy combining genome-wide approaches, including genome-wide linkage and whole exome sequencing, and functional investigation approaches using including induced pluripotent stem cell technology. The study population includes children who developed acute viral myocarditis between the ages of 4 months to 16 years.

RESULTS: Pending.

IMPACT: The findings from this study will contribute to the development of better-defined diagnostic criteria for acute viral myocarditis, as well as targeted preventative and curative treatments in affected patients.

Supervising Institution:
The Rockefeller University

Jean-Laurent Casanova

Project Location:
New York

Award Amount: