Funded by Foundation

Vishal Srivastava is working as a postdoctoral fellow in Dr. Bin Zhang’s lab at the Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic. He received his Ph.D. from the CSIR-Central Drug Research Institute/Jawaharlal Nehru University, India. As a recipient of the JGP Fellowship, he will study the role of proteostasis regulators/chaperone-like small molecules and ribosomal readthrough compounds to correct protein impairments due to missense and nonsense mutations in hemophilia A (HA) patients. He hopes to develop innovative therapeutic approaches for treatment of HA patients based on their mutations.

Dr. Yuan Zhang obtained her Ph.D in microbiology from Wuhan University, China, in 2015. Her Ph.D work focused on creating new or more effective genetically engineered vaccines against human viruses. In 2016, she joined Dr. Bin Zhang’s group as a postdoctoral fellow at the Lerner Research Institute, Cleveland Clinic. She works on understanding the mechanism of receptor-mediated ER-Golgi transport of secreted glycoproteins. In her JGP project, she aims to identify B domain signals that direct FVIII into the LMAN1-MCFD2 secretory pathway, and investigate the importance of the B domain in FVIII biosynthesis and LMAN1-MCFD2 mediated secretion in mouse models. She hopes that her research will provide important information for guiding recombinant FVIII production and the design of hemophilia A gene therapies.

Dr. Sean Quinn is a postdoctoral fellow at the Children’s Hospital of Philadelphia in the laboratory of Dr. Rodney Camire. Dr. Quinn received his doctoral degree in Biochemistry/Biophysics from Rensselaer Polytechnic Institute in 2019. For his JGP project, Dr. Quinn will develop novel monoclonal antibodies (mAbs) that bind and protect FV or activated FV (FVa) to promote coagulation in the context of hemophilia. To accomplish this goal, Dr. Quinn will use biochemical and biophysical approaches to map the epitopes where lead candidate mAbs bind to FV/FVa. Moreover, he plans to assess the efficacy of these mAbs using a combination of in vivo approaches with an already established hemophilia mouse model. Long-term, Dr. Quinn’s goal is to become an independent investigator to develop approaches to modulate anticoagulant pathways to treat bleeding.

Dr. Shani Johnson is a clinical postdoctoral fellow within the Department of Pediatrics, Section of Pediatric Hematology/Oncology at Baylor College of Medicine and Texas Children's Hospital. Dr. Johnson earned her medical degree from Duke University School of Medicine and completed her pediatric residency at Northwestern University/Lurie Children’s Hospital. Since medical school, Dr. Johnson has demonstrated a strong commitment to research and clinical care of children and young adults with sickle cell disease. With prior mentorship from national leaders in sickle cell disease, including Dr. Nirmish Shah (Duke) and Dr. Robert Liem (Northwestern), Dr. Johnson has presented her work at institutional and academic meetings including ASH, covering topics related to healthcare transition, cardiopulmonary fitness, and patient-reported outcomes in sickle cell disease. Continuing her training as a pediatric hematology/oncology fellow, she has spent the past year and a half in the laboratory of mentor Dr. Jonathan Flanagan, conducting sickle cell disease translational research with a specific focus on acute chest syndrome.

With the support of the NHF Jeanne Marie Lusher Diversity fellowship, Dr. Johnson plans to continue her sickle cell disease research with her project titled “Determining Clinical Severity and Molecular Profiles of Acute Chest Syndrome in Sickle Cell Disease.” She will investigate the roles of inflammation, blood cell rheology, and genetic variation in the pathophysiology of acute chest syndrome in order to determine why some children develop more severe complications than others.

Dr. Johnson’s overall goal is to become an independently funded clinical and translational physician-scientist and leader in the field of pediatric hematology, improving the lives of children and adolescents with sickle cell disease nationally and globally.

Since my first year of medical school, I have been actively involved in sickle cell disease (SCD) research with a focus on cognitive outcomes of patients affected by the disease. During my first year of medical school, I collaborated with my mentors, Dr. Enrico Novelli, and Dr. Noll and conducted an independent study that assessed cognitive impairment in children with SCD in Nigeria for which I served as a PI. I spent a month in Nigeria performing WISC IV cognitive assessments on children with SCD as well as a control group without the disease. The goal of the research was to elucidate the prevalence and correlates of CI in Nigeria. The experience laid a foundation for future longitudinal or interventional studies to ameliorate the disease burden of SCD in sub-Saharan Africa. It also furthered interest in the disease process of SCD especially in a neurological aspect of the disease course. During medical school, I was accepted into the Clinical Scientist Training Program where I conducted research exploring the relationship between arterial stiffness and cognitive functioning of individuals with SCD. Through this program, I was able to receive a Master of Science degree in clinical research. My most recent project deals with exploring the impact of hydroxyurea on cognitive functioning of children with SCD in Ghana. During my fellowship, I will continue to build on my prior training and research experiences. I am fortunate to be working with Dr. Kleber Fertrin and Dr. Rebecca Kruse-Jarres who both have an extensive career in management of patients with sickle cell disease. The proposed project will help me gain deeper understanding of neurocognitive outcomes and perhaps the prevention of neurocognitive outcomes in sickle cells disease. The Jean Marie Lusher Diversity Research Fellowship award will provide me with the support to achieve my goal of a prolific career in clinical and translational research in historically marginalized SCD patients.

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.

Dr. Xuejie Chen is a postdoctoral fellow in the laboratory of Dr. Darrel Stafford at the University of North Carolina at Chapel Hill. Before joining Dr. Stafford’s lab, she received her Ph.D. degree in Cell Biology from Beijing Normal University, P. R. China. In her JGP Fellowship project, Dr. Chen aims to study the contributions of extravascular factor IX (FIX) to blood coagulation and to search for FIX variants that could efficiently displace the endogenous dysfunctional FIX in hemophilia B patients. To achieve this goal, Dr. Chen will study the binding between FIX and the subendothelial basement membranes, mainly type IV collagen, and use the site-directed random mutagenesis library to screen for tighter binding FIX molecules. In doing so, she hopes to identify a FIX variant that can be used in hemophilia B patients for better coagulation therapies.

This research project will illustrate the improvements to joint range of motion and hospital utilization (which includes emergency room visits, hospital admissions, and central line infections) in persons with hemophilia A (with and without inhibitors) who switched to emicizumab for bleeding prevention.

The primary aim of this study is to determine if people with bleeding disorders and chronic pain will attend and find benefit from an 8-week mindfulness-based yoga program. This program was chosen because of its focus on building skills in the areas of gentle yoga and mindfulness. Yoga positions will be modified to meet the needs of people who have joint contractures and limited range of motion. The program will include instruction in yoga and meditation techniques that are designed to reduce pain, fatigue, psychological distress, sleeping disturbances, and increase functional capacity.

From University of Texas Health Science Center at Tyler (UTHSCT). Dr. Magisetty completed Ph.D. doctoral training on the evaluation of FVIIa-EPCR interactions in the management of hemophilic arthropathy and is enthusiastic looking forward to the postdoctoral training on the “Role of EPCR-FVIIa anti-inflammatory signaling in the pathogenesis and treatment of hemophilic arthropathy”.

I am currently working as a Postdoctoral Research Associate at the University of Texas Health Science Center at Tyler, Tyler, Texas, under the mentorship of Professor L. Vijaya Mohan Rao. My research focuses on elucidating novel mechanisms by which FVIIa provides hemostatic and anti-inflammatory effects and the relevance of these mechanisms in treating bleeding disorders and hemophilic arthropathy. I graduated from the University of Calcutta, India, in 2009 with a bachelor’s degree in Microbiology. My post-graduation was also in Microbiology from India in 2011. I completed my doctoral studies in 2019 from the Indian Association for the Cultivation of Science, India, where I focused on understanding the mechanistic details of tissue factor-factor VIIa-induced progression of human breast cancer. I published several peer-reviewed articles from my Ph.D. thesis work in journals, such as Journal of Biological Chemistry, Cellular Signaling, and Molecular Carcinogenesis. I enjoy playing video games, reading novels, and cooking various Indian foods.

Dr. Ze Zheng is an Assistant Professor at the Medical College of Wisconsin and an Assistant Investigator at the Versiti Blood Research Institute (Blood Center of Wisconsin). She received her MBBS in Clinical Medicine from Jiamusi University in China, and her PhD in Molecular Medicine and Genetics, focusing on liver metabolism, from Wayne State University in Michigan. During her postdoctoral training in Dr. Ira Tabas lab at Columbia University, she found a novel source and regulation of basal plasma tissue-type plasminogen activator (tPA) derived from hepatocytes, which is important for fibrinolysis when a vessel injury occurs. Dr. Zheng recently joined the Medical College of Wisconsin in July 2020 and established her research laboratory in the Versiti Blood Research Institute with access to state-of-the-art facilities and group meetings with established investigators in hemostasis and bleeding disorders. Dr. Zheng has been the recipient of a Berrie Scholar Award, an ASH Scholar Award, an AHA Career Development Award, and a Cullen Run COVID-19 Rapid Response Grant. 

As the 2020 recipient of the NHF Career Development Award, Dr. Zheng will be studying the mechanism of increased fibrinolysis in severe hemophilia patients in collaboration with the Comprehensive Center for Bleeding Disorders at Versiti Blood Center of Wisconsin. This work will explore novel therapeutic strategies to reduce basal fibrinolysis and bleeding symptoms in severe hemophilia patients. 

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.

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.

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).

People with bleeding disorders are often connected to and with various community members such as local and national foundations/associations, their home health company, nurses , pharmaceutical representatives, etc. While people are often encouraged to wear medic alert ID, they do not know anyone in the EMS system who may be caring for them in case of an emergency. Through this project, EMS providers will receive education regarding bleeding disorders and the treatment required in an emergency. This project will seek to connect the HTC's with the EMS systems locally and regionally to coordinate the education with the EMS professionals to provide care.

Hemophilia causes repetitive bleeding episodes throughout the musculoskeletal system, primarily into joints, such as knees and ankles. This leads to significant joint damage resulting in increased pain reproduction, decreased functional abilities, such as walking, and negatively impacts quality of life. Traditionally the extend of joint damage has been examined via clinical assessments, such as the Hemophilia Joint Health Scores, x-rays, MRIs, and more recently musculoskeletal ultrasound (MSKUS). However, these modalities fail to establish the global impact of joint damage on the entire body of a person with hemophilia and their functional abilities. Analyzing joint motion and forces acting upon the joint during walking has been a widely established technique to gain understanding of abnormal three-dimensional movements and is a key factor in clinical decision making-processes. With the overall goal of establishing better treatment approaches for persons with hemophilia it is vital to understand the underlying functional joint limitations. Therefore, the purpose of this study is to investigate characteristics of damaged joints, joint motion and control as well as forces acting upon the joint during walking in persons with hemophilia.