Research Studies

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. 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.

I am a Family Nurse Practitioner at the Northwell Hemostasis and Thrombosis Clinic (HTC) trained in Primary Care and then had specialized training in Hemostasis. I anticipate completing a Doctor in Nursing Practice terminal degree in December 2023. I have both clinical and research responsibilities at the HTC and currently serve as Co-Investigator on 6 research studies. I enjoy working on projects such as Health Care Transition, empowering patients to take ownership of their health as they transition from pediatric to adult care. In addition, my passion is in primary care and men's health. I currently serve as the New England regional representative on the National Bleeding Disorder Foundation (NBDF) Nursing Working Group. I also sit on the Research Nurse Board of Directors at Northwell.

His project aims to directly address current limitations of hemophilia A gene and protein therapy by the identification and characterization of new hyperactive factor VIII variants based on his previous studies of hyperactive factor IX variants. He will take a rational approach to identify such variants focused on amino acid substitutions that can enhance factor VIII cofactor activity while maintaining physiological regulation, which will facilitate their translation into therapeutics. In vivo murine studies of efficacy and immunogenicity will provide the basis for subsequent translational studies.

Clinicians at US Hemophilia Treatment Centers completed semi-structured interviews about their experience with shared decision-making and provided feedback on a clinician shared decision-making tool prototype. These data highlight the need for shared decision-making tools for haemophilia A gene therapy. Key information to include in the tool are safety, efficacy, cost and detailed information on the gene therapy process.

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As gene therapies for hemophilia are incorporated into clinical practice, shared decision-making (SDM) is recommended for implementation. The data in this study highlights the utility of a SDM tool for hemophilia gene therapy and key information needs.

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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. 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. 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.

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. 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.

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