Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of Heterotaxy

NIH RePORTER · NIH · R03 · $161,500 · view on reporter.nih.gov ↗

Abstract

Congenital heart disease (CHD) is the most common birth defect that affects nearly 1 in 100 liveborn infants. Heterotaxy (HTX) is a severe form affecting 3-4% of CHD patients where left- right (LR) asymmetry of internal organs is not established correctly. Epidemiological studies suggest that genetics plays a significant role in CHD. Uncovering the genetic pathogenesis for CHD is essential to provide a more accurate prognosis for CHD-related interventions, assess the risk for neurodevelopmental delays, and counsel families about recurrence risks. However, infants that undergo clinical genetic testing, known mutations and genes that cause CHD are identified in <30% of cases. This issue is exacerbated in patients from racial or ethnic backgrounds that are underrepresented in current genetic databases. The overarching GOAL of this proposal is to address this barrier using a multidisciplinary collaboration between clinicians, bioinformaticians, and basic scientists. Our research has the potential to significantly improve care and outcomes for HTX patients.

Key facts

NIH application ID
10887951
Project number
1R03HD112688-01A1
Recipient
UNIVERSITY OF VIRGINIA
Principal Investigator
Saurabh S Kulkarni
Activity code
R03
Funding institute
NIH
Fiscal year
2024
Award amount
$161,500
Award type
1
Project period
2024-08-01 → 2026-07-31