Funded by Foundation

Marie Hollenhorst, MD, PhD is a physician-scientist and non-malignant hematologist. She is Assistant Professor of Medicine at Harvard Medical School and Associate Physician in the Division of Hematology at Brigham and Women's Hospital. She completed her MD and PhD at Harvard. She completed a residency in internal medicine, a fellowship in blood banking/transfusion medicine, a fellowship in hematology, and postdoctoral scientific training in chemical glycobiology. Her research lab uses biochemical approaches to study carbohydrate structures (called glycans) that impact bleeding and clotting. Her NBDF-funded research project is motivated by a desire to improve diagnostic assays for patients that have diseases driven by anti-platelet antibodies. There are several diseases where antibodies can bind to platelets and trigger their accelerated clearance, leading to low platelet counts and a risk for bleeding. In many cases, these disorders can be challenging to diagnose as the assays that can be used clinically to detect these anti-platelet antibodies are not always accurate. Dr. Hollenhorst and her team think that one reason that the current assays are not more useful may be that these anti-platelet antibodies bind to certain glycan structures that are as yet uncharacterized. They are working to characterize these glycan structures and determine to what extent they are relevant for anti-platelet antibody binding. It is their hope that this work will lead to the development of improved diagnostic assays for disease such as fetal and neonatal alloimmune thrombocytopenia and immune thrombocytopenia.

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.

I received by BS in Biochemistry from the University of Arizona in 2012. I then received my PhD at the University of Maryland, Baltimore County while studying under Dr. Elsa D. Garcin. I am currently a postdoctoral scholar at Western Washington University under Dr. P. Clint Spiegel. Our research focuses on the structure/function of activated coagulation factor VIII and factor IX and how the two proteins bind to lipid membranes to form the intrinsic tenase complex. The results from this research will elucidate the mechanism behind hemophilia A/B-associated missense mutations and how factor replacement therapeutics can be rationally designed for increased pharmacokinetic properties.

Dr. Luisanna Sánchez is a pediatric hematologist at Innovative Hematology and the Indiana Hemophilia & Thrombosis Center in Indianapolis, where she cares for children and adolescents with inherited blood disorders. She is board certified in Pediatric Hematology/Oncology and is deeply committed to advancing clinical research that improves care and long-term outcomes for patients and families affected by blood disorders. Dr. Sánchez’s clinical and research work focuses on sickle cell disease, iron deficiency anemia, and expanding access to evidence-based care for young people with blood disorders. She has led national and international research collaborations, contributed to clinical guidelines and education initiatives, and is dedicated to developing patient-centered research that translates scientific discoveries into better everyday care.

Dr. Sánchez’s NBDF-supported research studies why some children with sickle cell disease respond better than others to hydroxyurea, a medication that helps prevent pain, organ damage, and other serious complications. Her project examines clinical and blood cell patterns to better understand how this treatment works and why responses differ between patients. The goal is to help doctors predict which patients will benefit most and how treatment can be optimized earlier in life. By supporting more personalized treatment approaches, this work aims to reduce complications, improve quality of life, and help families feel more confident that treatments are working, advancing NBDF’s mission to prevent complications and improve outcomes across the bleeding and blood disorders community.

Katie Klütz, MSW, LCSW is the social worker for pediatric patients at Orlando Health Arnold Palmer Hospital for Children’s HTC in Orlando, Florida. She earned a bachelor’s degree in Social Work with a double major in Psychology from Florida State University in 2005 and earned a master’s degree in Social Work in 2006 from the same institution. Katie began working with inpatient Hematology/Oncology pediatric patients and their families in 2017 and transitioned to working exclusively with the HTC full time in January 2021.

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.

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.

A professor and dual certified nurse practitioner in pediatrics and adults.  She completed her PhD in Educational and Organizational Leadership and taught for 10 years specializing in camp nursing, service leadership, physiology, and hematology. Dr. Gaslin periodically works as a camp consultant and legal consultant and publishes the majority of her work in the areas of bleeding disorders, pediatric development, camp nursing, behavioral health, and leadership.

Dr. Gaslin served as the Medical Director at a special needs camp for six years where she directed care for children with chronic disease, disability and life-threatening illness.  She currently serves as a nurse practitioner in a Hemophilia Treatment Center.  She also serves as the Executive Director for the Association of Camp Nursing where she travels to different areas of the US and Canada educating healthcare providers about camp health services and the many benefits for children and adults. She recently (2020) co-authored a textbook:  Camp Nursing; The Basics and Beyond.  Dr Gaslin is passionate about every child having a camp experience and learning that they can achieve great things in life.

Elizabeth Hall is the physical therapist for the Hemophilia and Thrombosis Treatment Center (HTC) at Rady Children’s Hospital San Diego (RCHSD). She has worked at RCHSD for over ten years and has worked closely with Dr. Thornburg for the past seven years. She has expertise in the evaluation and treatment of patients 0-21 years in inpatient, rehabilitation, and outpatient settings. She has developed particular expertise in the evaluation and management of children and adolescents with bleeding disorders. She is an active member of the Western States PT working group.

Amanda Stahl, MSW, LICSW is the social worker for adult patients at the Boston Hemophilia Center at Brigham and Women’s Hospital, where she has been providing clinical services to patients with bleeding disorders since 2015. She participates in multiple national committees, joining the NHF Social Work Working Group in 2019, and the ATHN Access to Care Working Group also in 2019. For the past 2 years she has been a speaker at the NHF Bleeding Disorders Conference presenting on her research and information about Post-Traumatic Stress Symptoms for patients with acute and chronic illness. Amanda is a “double eagle” graduating with both her BA in 2006, and MSW in 2010, from Boston College.

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”.