Dr. Camire's research focuses on understanding the components of the blood coagulation system, how they interface with activated cells, and how disturbances in their function lead to bleeding and thrombosis. He is also interested in developing novel therapeutic approaches (protein, gene-based, small molecule) to mitigate these events, which are major causes of morbidity and mortality worldwide.
The development of gene-based strategies for the treatment of bleeding and thrombotic diseases is at the heart of research by Dr. Arruda. Working collaboratively, Dr. Arruda and his colleagues have carried out early-phase clinical studies on adeno-associated viral vectors for the treatment of severe hemophilia B.
Dr. Krishnaswamy studies molecular mechanisms underlying the reactions of blood coagulation. His laboratory investigates how the proteins of blood coagulation interact with each other and with membranes to yield a regulated clotting response to vascular injury or an unregulated response in thrombotic or bleeding disease.
As director of the Center for Clinical Pharmacology, Dr. Zuppa has a dynamic research program that focuses on using clinical pharmacological modeling and simulation strategies to study the impact of critical illness on drug disposition in children.
The research in the Sabatino Laboratory is focused on hemophilia, an inherited bleeding disorder. The interests of the laboratory include the study of variants of coagulation factor VIII to understand the biochemical properties of these proteins and to identify novel variants with enhanced function, and the development of gene-based therapeutic approaches for treating hemophilia.
Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.
Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.