SUMMARY
J. Martijn Bos, M.D., Ph.D., is a research scientist who studies the basic, genetic, translational and clinical aspects of sudden cardiac death. Dr. Bos focuses on hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).
Dr. Bos is a member of the Windland Smith Rice Sudden Death Genomics Laboratory of Michael J. Ackerman, M.D., Ph.D. In the lab, Dr. Bos investigates novel disease-associated genes through targeted gene analysis and whole-exome and whole-genome sequencing strategies. He also studies in vitro characterization of candidate variants and genotype-phenotype correlation studies.
Focus areas
- Genetics of arrhythmia syndromes. Dr. Bos searches for novel candidate genes related to the pathogenesis of genetic cardiac arrhythmia syndromes such as hypertrophic cardiomyopathy and long QT syndrome. His work is aimed at increasing scientific understanding of the etiology of these conditions and improving diagnosis, treatment and familial screening protocols. Dr. Bos also studies the biological pathways that lead to hypertrophic cardiomyopathy through multiomic analyses aimed at identifying novel targets for treatment.
- Diagnostics and prognostics of genetic arrhythmia syndromes. Under the tutelage of Dr. Ackerman, Dr. Bos helps with clinical research studies of genetic arrhythmia syndromes to improve understanding of clinical etiology, presentation and outcomes.
- Application of artificial intelligence (AI). Dr. Bos studies the use and application of AI for genetic arrhythmia disorders, including HCM and LQTS. He is at the forefront of developing novel algorithms that aid in detection, diagnosis and risk stratification for use in research, clinical practice and mobile technologies.
- 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. This initiative automatically alerts healthcare providers when the QT intervals on a person's electrocardiogram (ECG) are critically prolonged.
Significance to patient care
Dr. Bos' studies focus on genetic arrhythmia syndromes. He hopes to expand knowledge about the genetic background of these conditions, improve clinical management and family screening, and develop genotype-specific therapeutics. His studies are designed to improve early detection and provider awareness of these often silent but potentially lethal cardiac syndromes. In addition, Dr. Bos is keenly interested in applying artificial intelligence to improve the diagnosis, care and management of these conditions.