Research Studies

The long-term goal of my work is to improve treatment options for patients with hemophilia and other heritable bleeding disorders. The goal of my current research is to understand the impact of factor VIII deficiency on brain structure and function as well as determine the mechanism behind these changes. In our previous studies investigating survival of hemophilia A mice, we observed unusual behavior. After investigation we discovered an anxiety-like phenotype as demonstrated by increased time in the periphery on open field and increased time in the dark on light/dark testing. In order to accomplish the goal of the current proposal, we will utilize quantitative neuroimaging techniques to assess change in brain structure including intracranial volume and we will measure glial activation and neuroinflammation to determine the mechanism of the underlying neurophenotype in hemophilia A mouse model. In addition, we will determine if factor VIII replacement via our established gene transfer methods reduces or resolves the anxiety-like behavior in the hemophilia A mouse model. As part of the Hemophilia and Thrombosis Center at Iowa, I have an intimate knowledge of the up and coming therapies in the field. I have generated the preliminary data including behavior studies with hemophilia A mice. Published data on piggyBac transposon liver-transduction including tissue cell work and in vivo testing demonstrates the feasibility of long-term factor VIII replacement in the hemophilia A mouse model . As an early stage investigator, I had strong mentorship under the guidance of Drs. Paul McCray and Steven Lentz to complete my post-doctoral research and training in gene therapy and hemophilia research. I have extensive experience with the phenotypic studies in mouse models including behavior studies, vector delivery systems both in vivo and in vitro, and multiple coagulation antigen and activity assays.

Dr. Karen Zimowski is a pediatric hematology/oncology fellow at Emory University/Children's Healthcare of Atlanta (CHOA). Dr. Zimowski received her BS in Biochemistry from Clemson University and her MD from the Medical College of Georgia. She completed pediatric residency at Johns Hopkins University. As a NHF-Shire Clinical Fellow, she will receive clinical training under the guidance of Drs. Robert Sidonio and Shannon Meeks in the Comprehensive Bleeding Disorders Clinic at CHOA and Special Coagulation Laboratory at Emory University. In addition, she will continue her current research projects, investigating the structure-function relationships of both coagulation factor V and factor VIII. Dr. Zimowski aims to become an expert physician-scientist in the field of pediatric hemostasis and thrombosis. She seeks to apply the knowledge gained through laboratory analysis to the clinical setting and provide the highest level of medical care to patients with bleeding and coagulation disorders.

Dr. Patricia Zerra is currently completing her pediatric hematology/oncology fellowship at Emory University/Children's Healthcare of Atlanta (CHOA) and will begin an additional fellowship in Transfusion Medicine focusing on coagulation in July 2017. Dr. Zerra graduated from Connecticut College followed by two years of research at Boston Children's Hospital. She received her M.D. from Jefferson Medical College in Philadelphia and completed pediatrics residency at the University of Miami/Jackson Memorial Hospital where she served as chief resident with an additional year practicing general pediatrics. As an NHF-Shire Clinical Fellow, Dr. Zerra will work under the mentorship of Dr. Robert Sidonio, Pediatric Director of the Emory/CHOA Hemophilia Treatment Center to focus on the clinical management of children with bleeding disorders. She will also continue her current research under the mentorship of Drs. Shannon Meeks and Sean Stowell, focusing on the immune response to FVIII in an effort to identify initiating immune events that can serve as targets to prevent FVIII inhibitor formation. Her goal is to serve as a pediatric hematologist and clinical/translational researcher focusing on the care of pediatric patients at risk for developing inhibitors.

Per Dr. Schulman, the JGP enabled him to dedicate time to hemophilia research, and more importantly, demonstrated to his department that what he is doing is extremely important to external funding sources. Dr. Schulman has never been formally involved with a Hemophilia Treatment Center, however, his institution has an entire division of hemostasis and thrombosis with clinical and research activity. As a note in proof, I would like to add that the generous support of the NHF has also been instrumental in helping me to establish a viable career path as a physician-scientist focused on the biology and treatment of disorders of hemostasis. Recognition by the NHF with this award has helped me to secure additional protected time and institutional commitment to continue along this career path at Beth Israel Deaconess Medical Center.  I wanted to thank the NHF again, the award has helped me to gain recognition and commitment from my home institution that I expect will eventually enable me to launch an independent career with a focus on bleeding disorders.

This study will evaluate hemophilia treatment center (HTC) services provided to women with hemophilia A or B (Factor VIII or Factor IX level [ 50%). The American Thrombosis and Hemostasis Network (ATHN) maintains a confidential national database for patients with bleeding and clotting disorders. Utilizing this existing ATHNdataset, the study will analyze the effect of gender on the delivery of comprehensive care in patients with hemophilia A and B. The project will focus on how gender impacts three specific components of care: identification of patients with factor VIII or IX deficiency, inclusion of patients in the comprehensive care model, and monitoring of joint bleeding as a key component of comprehensive care provided by HTCs. Demonstrating gender-based disparities in comprehensive care would provide evidence for making changes to improve the clinical care provided to women with hemophilia. This study will add to the knowledge regarding the care of women with hemophilia, helping to inform future studies of this under-researched population.