SUMMARY
Johan M. Bos, M.D., Ph.D., studies the basic, genetic, translational and clinical aspects of sudden cardiac death, focusing on hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) in the Windland Smith Rice Sudden Death Genomics Laboratory of Professor Michael J. Ackerman, M.D., Ph.D.
Dr. Bos' research includes the discovery of novel disease-associated genes through targeted gene analysis as well as whole-exome and whole-genome sequencing strategies, in vitro characterization of candidate variants, and genotype-phenotype correlation studies. Clinical studies include various diagnostic, therapeutic and prognostic aspects of genetic arrhythmia syndromes as well as evaluation of Mayo Clinic's institutionwide ECG QT alert system.
Focus areas
- Genetics of arrhythmia syndromes. Dr. Bos searches for novel candidate genes in the pathogenesis of genetic cardiac arrhythmia syndromes such as HCM and LQTS to further understand the etiology of the disease and improve diagnosis, treatment and familial screening protocols.
- Diagnostics and prognostics of genetic arrhythmia syndromes. Under the tutelage of Dr. Ackerman, Dr. Bos is involved in many clinical research studies involving genetic arrhythmia syndromes to improve understanding of the clinical etiology, presentation and outcomes.
- Mayo Clinic QT alert system. Dr. Bos plays an integral role in the continued evaluation, research and optimization of Mayo Clinic's ECG QT alert system, an institutionwide initiative that automatically alerts providers when the QT intervals on their patient's ECGs are critically prolonged.
Significance to patient care
As part of the Windland Smith Rice Sudden Death Laboratory, Dr. Bos' studies are aimed to expand the knowledge of genetic background, improve clinical management and family screening, and develop genotype-specific therapeutics for genetic arrhythmia syndromes. Studies are designed to improve early detection and provider awareness of these often silent, but potentially lethal, cardiac syndromes.