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Cambridge Cardiovascular



The role of regulatory elements in coagulation and bleeding disorders


Alterations of the coagulation process often end in bleeding or thrombotic disorders. The first cause for some of these alterations is genetic, meaning that the original problem can be identified in a single or few mutations in the genome. Understanding these mutations, where they occurs, and what are the outcomes can help the diagnosis and the treatment. Until recently, the search for these mutations has focused mainly in the coding regions, however genome wide association studies have pointed out that the majority of the variations in our genome are in non-coding regions often enriched in regulatory regions, such as enhancers.

My PhD project aims to understand the impact of non-coding variants on the transcription of coagulation relevant genes. This research is important because can increase our understanding of the aetiology of bleeding and thrombotic disorder. Moreover, fundamental regulatory regions could be complemented in diagnostic techniques and procedures. In my project I use human induced pluripotent stem cells and CRISPR/Cas9 techniques to mimic genetic mutations identified in patients. Besides, Chromosome Conformation capture assays to understand the interactions happening between regulatory regions and target regions. Lastly, ATAC-Seq, Chip-Seq and RNA-Seq to increase the comprehension of the mutation effect on the genome landscape and transcription. 


Luca Stefanucci, John Lambourne, Daniel Duarte, Willem H. Ouwehand and Mattia Frontini; Unravelling the 3D architecture of genes involved in bleeding and thrombotic disorders. EMBO-EMBL Symposia, Principles of Chromosome Structure and Function. Heidelberg, Sept 2018.

PhD Student
Hematology department
 Luca  Stefanucci


Person keywords: 
genetic variation