The Rakhi Naik Lab studies sickle cell disease. We focus on complications related to the disease, including chronic kidney disease and venous thromboembolism. By defining the risks and factors for diseases related to the sickle cell trait, we hope to improve genetic counseling and screening and treatment recommendations. Other research in the lab examines the epidemiology and unique mechanisms of thrombosis in patients with hemoglobin disorders. Specifically, we are trying to identify mechanisms of hypercoagulability and develop treatments for patients with hemoglobinopathies.

Venous thromboembolism is a major cause of morbidity and mortality. Thrombosis can be caused by acquired or inherited factors, but the genetic contribution to thrombosis is not well defined. Genome wide association studies have recently uncovered new pathways that cause thrombotic disease in humans. The Lowenstein Lab uses human genetics to discover and characterize novel genes that regulate thrombosis and hemostasis. We collaborate with genetic epidemiologists who perform GWAS to identify genetic variants linked to vascular inflammation or thrombosis. We then characterize genetic loci linked to vascular inflammation or thrombosis. These approaches have revealed new pathways in endothelial cells and platelets that contribute to thrombosis and may lead to novel therapies to prevent abnormal bleeding and thrombosis. Current Projects: Genetic causes of venous thromboembolism | Genetic causes of abnormal endothelial activation | Epigenetic regulation of coagulation factor production