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Description:
Thrombosis is a severe medical condition that can affect both children and adults. While several genetic risk factors for venous thrombosis are well recognized, only 10-30% of at-risk individuals will ever sustain an event, due to the presence of unidentified modifier genes. This scientific session will highlight research that aims to unravel the effect of genetics, inflammation, and treatment on disease severity including the post-thrombotic syndrome.
Dr. Jordan Shavit will discuss strategies for detection of modifier genes of known thrombophilic risk factors using the zebrafish model. His group has used genome editing to develop highly penetrant zebrafish models of venous thrombosis, including protein C and antithrombin deficiency. These models have been used to identify new modifiers from: a) high throughput genome-wide mutagenesis screens in zebrafish, and b) validation of loci from genome-wide association studies (GWAS) in human populations.
Dr. Pavel Davizon-Castillo will discuss the role of inflammation in thrombosis, emphasizing the immunometabolic responses of megakaryocytes and platelets and their contribution to thromboembolism. He will provide an overview of the immunometabolic determinants of platelet function in pediatric diseases.
Dr. Suzan Williams will discuss post thrombotic syndrome in children. Risk factors for the subsequent development of post thrombotic syndrome following a deep vein thrombosis, diagnostic tools for identifying post thrombotic syndrome, and current management, which is largely supportive, will be reviewed. There is a need for future development of improved prevention and treatment approaches to reduce the potential long-term morbidity and reduction in health-related quality of life, which can occur as a result of post thrombotic syndrome in children.
Dr. Jordan Shavit will discuss strategies for detection of modifier genes of known thrombophilic risk factors using the zebrafish model. His group has used genome editing to develop highly penetrant zebrafish models of venous thrombosis, including protein C and antithrombin deficiency. These models have been used to identify new modifiers from: a) high throughput genome-wide mutagenesis screens in zebrafish, and b) validation of loci from genome-wide association studies (GWAS) in human populations.
Dr. Pavel Davizon-Castillo will discuss the role of inflammation in thrombosis, emphasizing the immunometabolic responses of megakaryocytes and platelets and their contribution to thromboembolism. He will provide an overview of the immunometabolic determinants of platelet function in pediatric diseases.
Dr. Suzan Williams will discuss post thrombotic syndrome in children. Risk factors for the subsequent development of post thrombotic syndrome following a deep vein thrombosis, diagnostic tools for identifying post thrombotic syndrome, and current management, which is largely supportive, will be reviewed. There is a need for future development of improved prevention and treatment approaches to reduce the potential long-term morbidity and reduction in health-related quality of life, which can occur as a result of post thrombotic syndrome in children.