National Cerebral and Cardiovascular


Open Innovation Center

Omics Research Center (ORC)


DirectorOsamu Yamaguchi
Deputy DirectorAtsushi Takahashi
Laboratory ChiefManabu Shirai
Masaki Wakabayashi
Staff ScientistMorikatsu Yoshida



To Decipher Unexplored Molecular Basis of Cardiovascular Diseases by Means of Multi-Omics Approaches
Identification of novel biological, genetic, and clinical markers is essential for the "Precision Medicine"that achieves early diagnosis and prevention of patients at risk. By implementing multi-omics approaches including comprehensive genetic, genomic, proteomic, transcriptomic, and even physiomic analyses, and taking advantage of international collaborations, we aim at interrogating unexplored molecular mechanisms underlying several cardiovascular diseases, such as inherited lethal arrhythmia, common arrhythmia, cardiomyopathy, heart failure, and aneurysm.

  • Global collaboration of the comprehensive genetic and genomic studies for arrhythmias
  • Genetic and proteomic studies of aortic and intracranial aneurysm
  • Multi-omics study of dilated cardiomyopathy
  • Development of high throughput screening technology to functionally validate ion channel VUSs responsible for lethal arrhythmia
  • Epigenetic study of congestive heart failure



  1. Yamazaki M, Makita N, Tsuji Y et al. Rotors anchored by refractory islands drive torsades de pointes in an experimental model of electrical storm. Heart Rhythm (2021). doi:10.1016/j.hrthm.2021.10.012
  2. Masaki T, Shirai M, Nakaoka Y et al. Aryl hydrocarbon receptor is essential for the pathogenesis of pulmonary arterial hypertension. Proc Natl Acad Sci USA 118 (2021). doi:10.1073/pnas.2023899118
  3. Kozek K, Ishikawa T, Makita N, Kroncke B.M. et al. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. Circ Genom Precis Med 14, e003289 (2021). doi:10.1161/CIRCGEN.120.003289
  4. Ishikawa T, Makita N et al. Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. Eur Heart J 42, 2854-2863 (2021). doi:10.1093/eurheartj/ehab254
  5. Wijeyeratne YD, Ishikawa T, Makita N, Behr ER et al. SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families. Circ Genom Precis Med 13, e002911 (2020). doi:10.1161/CIRCGEN.120.002911
  6. Otani K, Minamino N, Kangawa K. et al. Deficiency of Cardiac Natriuretic Peptide Signaling Promotes Peripartum Cardiomyopathy-Like Remodeling in the Mouse Heart. Circulation 141, 571-588 (2020). doi:10.1161/CIRCULATIONAHA.119.039761
  7. Lahrouchi N, Ishikawa T, Makita N, Bezzina CR et al. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation 142, 324-338 (2020). doi:10.1161/CIRCULATIONAHA.120.045956
  8. Ishikawa T, Makita N et al. Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. Circ Arrhythm Electrophysiol 13, e008712 (2020). doi:10.1161/ CIRCEP.120.008712
  9. Takahama H, Minamino N, Izumi C. Plasma soluble neprilysin levels are unchanged during recovery after decompensation of heart failure: a matter of the magnitude of the changes in systemic haemodynamics? Eur Heart J 39, 3472-3473 (2018). doi:10.1093/eurheartj/ ehy454
  10. Miyazaki T, Minamino N, Mochizuki N et al. A New Secretory Peptide of Natriuretic Peptide Family, Osteocrin, Suppresses the Progression of Congestive Heart Failure After Myocardial Infarction. Circ Res 122, 742-751 (2018). doi:10.1161/CIRCRESAHA.117.312624
  11. Kanai Y, Minamino N, Inagaki N et al. Circulating osteocrin stimulates bone growth by limiting C-type natriuretic peptide clearance. J Clin Invest 127, 4136-4147 (2017). doi:10.1172/ JCI94912

last updated:2022/10/19

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