Dr Tom Webb

I studied genetics at the University of Sheffield before completing my PhD at the MRC Human Genetics Unit at the University of Edinburgh. My postgraduate studies involved the identification and characterisation of new genes involved in endocrine disorders at the William Harvey Research Institute QMUL and ophthalmic disease at the Institute of Ophthalmology UCL. I moved to the University of Leicester as a British Heart Foundation funded Lecturer in 2011 with the aim of understanding the genetic causes of cardiovascular disease.

My research group aims to identify and understand the genetic causes of common cardiovascular diseases such as coronary artery disease. We combine bioinformatics molecular and cellular techniques and use in vivo models to investigate the underlying mechanisms and pathways to characterise disease pathogenesis.

1. Karss KJ, et al. Spontaneous Coronary Artery Dissection: Insights on rare genetic variation from genome sequencing. Circulation: Genomics and Precision Medicine. e003030. 2020.
2. Debiec R, 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 & Genomic Medicine. e1437. 2020.
3. Aravani D, et al. HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis. Circulation. 140(6):500-513. 2019.
4. Jones PD, et al. JCAD, a gene at the 10p11 coronary artery disease locus, regulates Hippo signaling in endothelial cells. Arterioscler Thromb Vasc Biol. 38:1711-1722. 2018.
5. Nelson CP, et al. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat Genet. 49(9):1385-1391. 2017.
6. Morris GE, et al. Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes. Arterioscler Thromb Vasc Biol. 37:1050-1057. 2017.
7. Webb TR, et al. Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. J Am Coll Cardiol. 69(7):823-836. 2017.
8. Jones PD, et al. The Coronary Artery Disease Associated Coding Variant in Zinc finger C3HC-type containing 1 (ZC3HC1) Affects Cell Cycle Regulation. J Biol Chem. 291(31):16318-27. 2016.
9. Stitziel NO, et al. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med. 374(12):1134-44. 2016.
10. Nikpay M, et al. A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 372:1608-18. 2015.

We have ongoing projects in genetic discover and functional characterisation of genes linked to coronary artery disease and bicuspid aortic valve disease.

BS2009: Genomes BS2040: Bioinformatics BS2092: Molecular cell biology BS3031: Human genetics (co-convenor)

Cardiovascular disease genetics