NBDF funds a broad range of research programs that seek to increase our understanding of the science behind bleeding disorders, how they affect people's lives, and pathways to better treatments and cures.
Platelet Dysfunction in Ehlers-Danlos Patients with Bleeding Phenotype
Dr. Mariia Kumskova works at the Dr. Anil Chauhan’s laboratory, Department of Internal Medicine, Hematology-Oncology, University of Iowa. Dr. Kumskova obtained her medical degree from Russian State Medical University. Her professional research career began when she was working as a hematologist at National Research Center for Hematology (Russia). Her area of expertise is mainly focused on bleeding and thrombotic disorders. Since her residency Dr. Kumskova’s work contributed to the investigation of the coagulation status of different bleeding phenotypes in severe hemophilia A, standardizing diagnostic and treatment guidelines for patients with hemophilia, von Willebrand disease, and inherited platelet disorders, consulting patients with the combined bleeding diathesis and thrombotic events.
Dr. Kumskova’s research interests are concentrated on platelet cellular and molecular pathways. In pursue of continuing her study under the mentorship of established platelet field experts she joined The Chauhan Lab at the University of Iowa. Currently, her research is focused on unraveling the grey areas of platelet dysfunction in Ehlers-Danlos syndrome with bleeding phenotype. This innovative study has grown out of her medical practice. Dr. Kumskova believes that combining practical medicine and basic research of Ehlers-Danlos and platelet pathways can be beneficial for both, the research and medical fields.
Gene Therapy for Hemophilia: Patient Preferences and Shared-Decision Making
Dr. Courtney Thornburg is the Director of the Hemophilia and Thrombosis Treatment Center at Rady Children’s Hospital San Diego and Professor of Pediatrics at the University of California-San Diego.
Dr. Thornburg graduated from Duke University Medical School, completed her pediatric residency at Duke University Medical Center, and completed her pediatric hematology/oncology fellowship at the University of Michigan. While at the University of Michigan, she completed a Master Degree in Clinical Research Design and Statistical Analysis. During her time in Michigan she focused her training on hemophilia and other bleeding disorders and was a NHF-Shire Clinical Fellow under the mentorship of Dr. Steven Pipe. Dr. Thornburg was on the faculty at Duke University from 2005-2013 where she directed the sickle cell and hemostasis and thrombosis programs.
Dr. Thornburg is committed to taking care of children with blood disorders including bleeding disorders, clotting disorders and inherited red blood cell disorders. She conducts clinical research to improve the care of individuals with blood disorders. Her NHF Innovative Investigator Research Award focuses on patient preferences and shared-decision making related to gene therapy for hemophilia.
In order to educate the next generation of physicians, Dr. Thornburg teaches medical students, residents and fellows and is the Director of the Pediatric Hemostasis and Thrombosis Fellowship at RCHSD, a site for the NHF-Takeda Clinical Fellowship program.
Dr. Thornburg is a member of NHF’s Medical and Scientific Advisory Council (MASAC).
In addition to her career in medicine, Dr. Thornburg enjoys spending time with her family, traveling and playing tennis.
Navigating Time and Space: Experiences of Aging with Hemophilia
Dr. Tam E. Perry is an associate professor at Wayne State University School of Social Work. Her research addresses urban aging from a life course perspective, focusing on how underserved older adults navigate their social and built environments in times of instability and change. She conducts translational research projects that address older adults’ well-being in urban communities such as the Flint water crisis, and older adults’ experiences of gentrification in Detroit, particularly examining the relationship of older adults to their homes. She is also co-principal investigator of a project entitled, “Older Adults’ Experiences and Understandings of the Flint Water Crisis,” which focuses on the intersection between housing and health. This project received the Betty J. Cleckley Minority Issues Research Award from the Aging and Public Health Section of American Public Health Association for this research. She also serves as research chair and vice-chair of strategic planning of a multi-agency coalition, Senior Housing Preservation-Detroit. Lastly, she co-directs the Community Liaison and Recruitment Core of the Michigan Center for Urban African American Aging Research (MCUAAAR).
Navigating Time and Space: Experiences of Aging with Hemophilia
Sara L. Schwartz is a Clinical Associate Professor at the University of Southern California Suzanne Dworak-Peck School of Social Work. Her research portfolio examines experiences of isolation in diverse settings and communities such as public child welfare, social work academia and communities impacted by HIV/AIDS. In recent years, Dr. Schwartz has explored HIV/AIDS in the hemophilia community and the experiences of men and women aging with bleeding disorders. She serves on the Board of Directors of the National AIDS Memorial in San Francisco, applying her research skills to capture and preserve the histories of individuals and communities lost to the AIDS epidemic.
Functional Interpretation of Genetic Variants in Von Willebrand Factor
Dr. Andrew Yee is an assistant professor of pediatrics within the Department of Pediatrics, Hematology-Oncology Section at Baylor College of Medicine. Dr. Yee earned his doctorate from Rice University where he studied the biological responses of endothelial cells to mechanical forces in the laboratory of Dr. Larry McIntire. He continued his research training as a Judith Graham Pool postdoctoral fellow in the laboratory of Dr. David Ginsburg at the University of Michigan where he studied the molecular biology of von Willebrand factor. At Baylor College of Medicine, Dr. Yee and his team investigate the mechanisms by which von Willebrand factor controls blood clotting and are developing innovative approaches for diagnosing bleeding disorders.
Developing a Point-of-Care Testing for Hemophilia
Dr. Jill Johnsen is scientist and physician at the Washington Center for Bleeding Disorders in Seattle, WA. She is an Associate Member at the Bloodworks Research Institute and also an Associate Professor of Medicine in the Division of Hematology at the University of Washington. Her research focuses on the study of hereditary and acquired modifiers of blood traits, with particular emphasis on the genetics and biology of variation in blood group and coagulation factors such as factor VIII, factor IX, and von Willebrand Factor. Dr. Johnsen is honored by this award and grateful for this support that will further the development of a test to enable patients and providers to determine factor levels much more quickly without needing to send blood to a lab.
Novel Therapeutics for Hemophilia
Dr. Meeks is an Associate Professor of Pediatrics in the Department of Pediatrics at the Emory University School of Medicine and the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta. She obtained a Bachelor of Science in Mathematics from Duke University where she was elected to Phi Beta Kappa. After earning her medical degree from the University of Mississippi, she completed her clinical training at the University of Virginia and Emory University. Dr. Meeks has a basic, translational, and clinical research interest in the development of inhibitors in hemophilia A. Her work has focused on the early immune response to factor VIII and the diversity of the B-cell response to factor VIII. She is a former NHF clinical fellow who currently has funding to pursue these projects from the Hemostasis and Thrombosis Research Society and the National Institutes of Health.