Genomics Research for hereditary Erythrocytosis and related Diseases – GenRED

The GenRed project aims to identify germline mutations that cause hereditary (HE) and idiopathic erythrocytosis (IE). These rare hematological diseases are characterized by excessive production of red blood cells. HE/IE can be complicated by thrombotic events, bone marrow fibrosis and rarely tumors. To date, 8 genes have been reported to cause HE/IE; however, for 80% of patients, there is currently no known cause. Based on the French Intergroup of Myeloproliferative disorders which allows the recruitment of a significant number of patients, the proposal plans to perform whole exome sequencing of 90 cases and to analyze the relevance of the newly identified mutations using in vitro and in vivo functional studies. Once validated, the mutations will serve to establish new cell lines and Zebrafish models to screen therapeutic drugs. The project will allow appropriate diagnosis, evaluation of risk factors and the identification of new molecular pathways involved in erythropoiesis regulation
The GenRed project aims to identify germline mutations that cause hereditary (HE) and idiopathic erythrocytosis (IE). These rare hematological diseases are characterized by excessive production of red blood cells. HE/IE can be complicated by thrombotic events, bone marrow fibrosis and rarely tumors. To date, 8 genes have been reported to cause HE/IE; however, for 80% of patients, there is currently no known cause. Based on the French Intergroup of Myeloproliferative disorders which allows the recruitment of a significant number of patients, the proposal plans to perform whole exome sequencing of 90 cases and to analyze the relevance of the newly identified mutations using in vitro and in vivo functional studies. Once validated, the mutations will serve to establish new cell lines and zebrafish models to screen therapeutic drugs. The project will allow appropriate diagnosis, evaluation of risk factors and the identification of new molecular pathways involved in erythropoiesis regulation
The GenRed project aims to identify germline mutations that cause hereditary (HE) and idiopathic erythrocytosis (IE). These rare hematological diseases are characterized by excessive production of red blood cells. HE/IE can be complicated by thrombotic events, bone marrow fibrosis and rarely tumors. To date, 8 genes have been reported to cause HE/IE; however, for 80% of patients, there is currently no known cause. Based on the French Intergroup of Myeloproliferative disorders which allows the recruitment of a significant number of patients, the proposal plans to perform whole exome sequencing of 90 cases and to analyze the relevance of the newly identified mutations using in vitro and in vivo functional studies. Once validated, the mutations will serve to establish new cell lines and zebrafish models to screen therapeutic drugs. The project will allow appropriate diagnosis, evaluation of risk factors and the identification of new molecular pathways involved in erythropoiesis regulation.
The GenRed project aims to identify germline mutations that cause hereditary (HE) and idiopathic erythrocytosis (IE). These rare hematological diseases are characterized by excessive production of red blood cells. HE/IE can be complicated by thrombotic events, bone marrow fibrosis and rarely tumors. To date, 8 genes have been reported to cause HE/IE; however, for 80% of patients, there is currently no known cause. Based on the French Intergroup of Myeloproliferative disorders which allows the recruitment of a significant number of patients, the proposal plans to perform whole exome sequencing of 90 cases and to analyze the relevance of the newly identified mutations using in vitro and in vivo functional studies. Once validated, the mutations will serve to establish new cell lines and Zebrafish models to screen therapeutic drugs. The project will allow appropriate diagnosis, evaluation of risk factors and the identification of new molecular pathways involved in erythropoiesis regulation.