I graduated from Medical University in Lodz Poland in 2006. I obtained my PhD at the University of Leicester 09/07/2013 for the project ""Analysis of genetic variation within urotensin-II system in regulation of blood pressure and renal function"". Since 06.02.2019 I have been working as the NIHR Academic Clinical Lecturer (University of Leicester) and Specialty Trainee in Adult Congenital Heart Disease (East Midlands Congenital Heart Centre).
My research and clinical interests focus on bicuspid aortic valve disease (BAV) - a common congenital heart condition which often leads to clinical complications in adult life including aortic valve stenosis/insufficiency aortic aneurysm and dissection. Since 2015 our group has been recruiting patients with sporadic and familial BAV disease as part of the the Bicuspid aoRtic vAlVe gEnetic research (BRAVE) study. This resulted in creation of one of the largest collections of patients with sporadic (700 subjects) and familial (24 pedigrees with multiple affected subjects) BAV disease in UK. Our group applies genomic and molecular techniques to identify genes and pathways underlying predisposition to development of BAV disease and its complications.
Debiec R Hamby S Jones PD et al. Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve ventricular septal defect thoracic aortic aneurysm and aortic valve stenosis.Molecular Genetics & Genomics in Medicine. Mol Genet Genomic Med.2020 Oct;8(10):e1437.
Mariscalco G Debiec R et al.Systematic Review of Studies that Have Evaluated Screening Tests in Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Disease. Accepted for publication in in Journal of the American Heart Association. Article DOI: 10.1161/JAHA.118.009302
Vanezis AP Arnold JR Rodrigo G Lai FY Debiec R et al. Daily remote ischaemic conditioning following acute myocardial infarction: a randomised controlled trial.Heart. 2018 May 10. pii: heartjnl-2018-313091.
Debiec R Sall N Samani NJ Bolger A. Genetic insights into bicuspid aortic valve disease. Cardiol Rev. 2017;25:158-164.
Christofidou P Nelson CP Nikpay M Qu L Li M Loley C Debiec R et al. Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages. Am J Hum Genet. 2015;97(2):228-37.
Tomaszewski M Eales J Denniff M Myers S Chew GS Nelson CP Christofidou P Desai A Büsst C Wojnar L Musialik K Jozwiak J Debiec R et al. Renal Mechanisms of Association between Fibroblast Growth Factor 1 and Blood Pressure. J Am Soc Nephrol. 2015;26:3151-60.
Musameh MD Wang WY Nelson CP Lluís-Ganella C Debiec R et al. Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease. PLoS One. 2015:10:e0117684.
Bloomer LD Nelson CP Denniff M Christofidou P Debiec R et al. Coronary artery disease predisposing haplogroup I of the Y chromosome aggression and sex steroids - Genetic association analysis. Atherosclerosis. 2014;233:160-4.
Debiec R et al. Urotensin-II system in genetic control of blood pressure and renal function. PLoS One. 2013:8:e83137.
I am currently co-supervising a PhD project “Genetic discovery screening and function in bicuspid aortic valve disease and related phenotypes”.
I will be involved in teaching about cardiovascular risk on the Cardiovascular Precision Medicine module.
Press and media
Bicuspid aortic valve congenital heart disease genomics
•The British Hypertension Society Jack Ledingham Young Investigator’s Poster Prize British Hypertension Society Annual Scientific Meeting Queens’ College Cambridge12 - 14/09/2011: “Urotensin II signaling pathway and genetic regulation of blood pressure”
Young Investigators Award on Population Sciences European Society of Cardiology Congress 2010: “Genetic control of heart rate in the general population - a large-scale genetic analysis” European Society of Cardiology Congress 2010 28/08/2010 - 01/09/2010 Stockholm Sweden