Kroncke Lab
Principal Investigator: Brett M Kroncke
Institution: Vanderbilt University Medical Center (Nashville, TN)
Primary Subfield: Molecular & Cell Bio
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
PROJECT SUMMARY/ABSTRACT Sequencing an individual’s genome now costs less than many routine medical procedures. A resulting vision is that everyone will have their genome sequenced early in life to enable individualized medical advice about disease prevention and drug selection. A major concern with this vision, however, is proper interpretation of the overwhelming volume of discovered novel and rare variants. In other contexts, a new diagnostic test can be benchmarked and validated in studies that compare large populations with and without a disorder to determine the predictive value of a positive result. In the genetic sequencing context, however, a positive test for most variants cannot be applied to enough heterozygous individuals for a definitive association with disease. Pathogenic variants in KCNH2 (a.k.a. hERG, a cardiac potassium channel gene critical for cardiomyocyte repolarization) can cause sudden cardiac death in the young and can predispose carriers to drug-induced arrhythmias. Genetic variants in KCNH2 are responsible for ~ 6% of autopsy-negative sudden unexplained death in the young and ~ 1% of sudden infant death syndrome cases. Additionally, among heterozygous ca…
Active NIH Awards
- 5R01HL160863-05: Integrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT Penetrance (2026)
- 5R01HL160863-04: Integrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT Penetrance (2025)
- 5R01HL160863-03: Integrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT Penetrance (2024)
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