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.

Courtney Thornburg

Gene Therapy for Hemophilia: Patient Preferences and Shared-Decision Making

Year:
-
Grants:
Innovative Investigator Research Award
Gene Therapy
Author(s):
Courtney Thornburg

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.

Tracey Gaslin

Health Services Guide for Bleeding Disorder Camps

Year:
-
Grants:
Nursing Excellence Fellowship
Author(s):
Tracey Gaslin

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

Pilot Study of Telemedicine vs In Person Physical Therapy Intervention for Hemophilia

Year:
-
Grants:
Physical Therapy Excellence Fellowship
Author(s):
Elizabeth Hall

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.

Xuejie_Chen

Increasing the efficacy of prophylactic infused FIX in hemophilia B patients by manipulating its binding to collagen IV

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia B (Factor IX/F9)
Author(s):
Xuejie Chen

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.

Amanda Stahl

Post-Traumatic Stress Disorder (PTSD) and Posttraumatic Stress Symptoms (PTSS) Among Adults with Hemophilia A and B

Year:
-
Grants:
Social Work Excellence Fellowship
Author(s):
Amanda Stahl

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.

Calvin_Stephens

Preclinical Development of Nuclease-Free Gene Editing for Lifeling Treatment of Bleeding Disorders

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Gene Therapy
Hemophilia A (Factor VIII/F8)
Hemophilia B (Factor IX/F9)
Author(s):
Calvin J. Stephens
Seema_Patel

The Epitopes Recognized in the Early Immunue Response to Factor VIII

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia A (Factor VIII/F8)
Inhibitors
Author(s):
Seema Patel
Azhwar_Raghunath

Identification of a Potential Novel Role for Factor IX Using a Zebrafish Model

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia B (Factor IX/F9)
Author(s):
Raghunath Azhwar
Engineered Regulatory T-cell Therapy for Tolerance to FVIII

Engineered Regulatory T-cell Therapy for Tolerance to FVIII

Year:
-
Grants:
Career Development Award
Hemophilia A (Factor VIII/F8)
Inhibitors
Author(s):
Moanaro Biswas

Moanaro Biswas, PhD, is currently an Assistant Professor in the Gene and Cell Therapy Program at the Herman B Wells Center for Pediatric Research at Indiana University, Indianapolis. She was appointed to this position in May 2018. She received her Masters and PhD in Biotechnology from India. She joined the University of Florida in 2013 as a Postdoctoral Research Associate and was subsequently appointed a faculty position in the department of Pediatrics at UF in 2017. She is mentored by Dr. Roland W. Herzog, a distinguished professor with extensive expertise in gene therapy for hemophilia. While at the University of FLorida, she received the Henry A. Kokomoor Award for excellence in Pediatric Research in 2017. Dr. Biswas has been the recipient of an early career investigator award from Bayer in 2016. Dr. Biswas is interested in studying cell and gene therapy-based treatments for combating inhibitor formation in hemophilia, As the 2018 recipient of the NHF/Novo Nordisk Career Development Award, which is made possible by a generous gift from Novo Nordisk, Dr. Biswas will be researching engineered Treg therapy for tolerance induction in hemophilia A. Chimeric antigen receptor (CAR) expressing Tregs, made specific for FVIII, will be tested in a murine model of hemophilia A. She will explore at the cellular and molecular level, interactions between antigen-specific CAR-Tregs and immune cell types involved in the development of inhibitors to FVIII.

Navigating Time and Space: Experiences of Aging with Hemophilia

Navigating Time and Space: Experiences of Aging with Hemophilia

Year:
-
Grants:
Innovative Investigator Research Award
Aging
Hemophilia A (Factor VIII/F8)
Hemophilia B (Factor IX/F9)
Author(s):
Tam E. Perry

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).

Sara L. Schwartz

Navigating Time and Space: Experiences of Aging with Hemophilia

Year:
-
Grants:
Innovative Investigator Research Award
Aging
Hemophilia A (Factor VIII/F8)
Hemophilia B (Factor IX/F9)
Author(s):
Sara L. Schwartz

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

Functional Interpretation of Genetic Variants in Von Willebrand Factor

Year:
-
Grants:
Innovative Investigator Research Award
Von Willebrand Disease
Author(s):
Andrew Yee

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.

Retrospective Chart Review of Joint Outcomes and Hospital Utilization for Persons with Hemophilia A (with and without inhibitors) Who Were Switched to Emicizumab for Treatment Prophylaxis

Retrospective Chart Review of Joint Outcomes and Hospital Utilization for Persons with Hemophilia A (with and without inhibitors) Who Were Switched to Emicizumab for Treatment Prophylaxis

Year:
-
Grants:
Nursing Excellence Fellowship
Author(s):
Amanda Greene

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.

von Willebrand Factor (VWF) Regulation in Blood Outgrowth Endothelial Cells from Individuals with Altered VWF Levels

von Willebrand Factor (VWF) Regulation in Blood Outgrowth Endothelial Cells from Individuals with Altered VWF Levels

Year:
-
Grants:
Career Development Award
Von Willebrand Disease
Author(s):
Christopher J. Ng

The National Hemophilia Foundation (NHF) is pleased to announce Christopher J. Ng, MD, Assistant Professor of Pediatrics, University of Colorado Denver, as the recipient of the 2017 NHF/Novo Nordisk Career Development Award (CDA). The overall objectives of the CDA are to advance bleeding disorders research by promoting the development of innovative studies among established investigators. The award funds basic, pre-clinical or clinical research approaches to yielding scientific information or answers contributing to better treatments for inheritable bleeding disorders.

Dr. Ng's CDA project is on "von Willebrand Factor (VWF) regulation in blood outgrowth endothelial cells from individuals with altered VWF levels”. By using blood outgrowth endothelial cells, Ng will identify the transcriptional and epigenetic modifiers that play a role in the regulation of VWF levels. He will also be utilizing novel assays for characterizing the effects. The proposed studies should shed light on our molecular understanding of VWD, advance other areas of investigation and potentially lead to better diagnostic and prediction algorithms for bleeding in VWD. Ng will be mentored on this award by Jorge DiPaola, MD, Director of Basic and Translational Research in Pediatric Hemostasis and Thrombosis at University of Colorado Denver.

Dr. Ng received his medical degree in 2008 from the Keck School of Medicine at the University of Southern California and completed his pediatric residency at the University of Washington–Seattle Children’s Hospital. Dr. Ng has the distinction of having received a several previous awards from NHF and others during the early stages in his career. He is a former NHF-Shire Clinical Fellow, having received the award in 2013 while training under the mentorship of Dr. Marilyn Manco-Johnson, Director of the Hemophilia and Thrombosis Center at UCD and Dr. DiPaola (see below). Ng has been the recipient of NHF’s Judith Graham Pool Postdoctoral Research Fellowship in 2015 for his project on a “Multi-system evaluation of von Willebrand factor function in Type 1 von Willebrand disease mutations” (see below). Ng also received a 2013 HTRS Mentored Research Award, the CSL Behring Professor Heimburger Award and the Hemophilia Association of New York Research Award.

Ng’s immediate focus is to continue building his career as a physician-scientist, through basic and translational studies on VWF for enhancing knowledge of hemostatic and thrombotic disorders while continuing to treat patients and providing clinical leadership at the University of Colorado Denver’s Hemophilia and Thrombosis Center. For the longer term, Ng hopes to one day have an independent, NIH-funded laboratory studying VWF and the biological factors that lead to varied clinical phenotypes in hemophilia and VWD.

Through the CDA, Ng will receive $70,000 per year for up to three years. This award was selected through a process of peer review conducted by NHF's Research Review Committee. This volunteer committee is made up of highly experienced and respected physicians and researchers working in the field of hematology. NHF wishes to thank the reviewers as well as Novo Nordisk, Inc. for their very generous support of this research award.

Protein Engineering of Plasminogen Activator 1 to Develop Novel Regulators of the Fibrinolytic and Hemostatic Pathways

Protein Engineering of Plasminogen Activator 1 to Develop Novel Regulators of the Fibrinolytic and Hemostatic Pathways

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Plasminogen Activator 1 (PA1)
Author(s):
Laura Haynes

Dr. Laura Haynes received her PhD in biochemistry from the University of Vermont where she studied how flow conditions throughout the vasculature affect thrombin generation, as well as the role of the platelet membrane in modulating the structure/function of the platelet associated prothrombinase complex. Dr. Haynes is currently a research fellow with Dr. David Ginsburg at the University of Michigan. During her JGP fellowship, she will use phage-display technology coupled with high throughput DNA sequencing to make an exhaustive index of the mutations in plasminogen activator inhibitor-1 (PAI-1) that prolong its half-life while not being deleterious in the inhibition of its canonical targets urokinase-type plasminogen activator (uPA) and tissue-type plasminogen activator (tPA). In doing so, she hopes to identify a PAI-1 variant that can downregulate the fibrinolytic process. Dr. Haynes will also implement similar technology to engineer a PAI-1 variant that inhibits activated protein C (APC), thereby prolonging thrombin generation. She hopes that this research will lead to potential therapeutic agents to treat hemophilia and other bleeding disorders.

Role of the HTC Social Worker

Role of the HTC Social Worker

Year: 2020
Grants:
Social Work Excellence Fellowship
Author(s):
Kathaleen Schnur
A survey link will be distributed to all hemophilia treatment center social workers with the ask that they forward on to the various staff members at their center. Social workers and other staff will have separate surveys. The questions will be built to be asked in a cascading manner, one question at a time, with the goal of better understanding perceptions of the social work role . Additionally, the social worker will be asked to provide some demographic information to build from prior surveys within the literature. The data collected will be used to create a standards of practice of the social work role and ultimately improve patient care and interdisciplinary collaboration. The standards of practice is intended to capture all the things a social worker is capable of doing within the center. The intent is that this tool will be adaptable based on center size, setting, and layout.
Identifying novel hemostatic regulation through species-specific studies using zebrafish

Identifying novel hemostatic regulation through species-specific studies using zebrafish

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia A (Factor VIII/F8)
Hemophilia B (Factor IX/F9)
Author(s):
Kari Lavik, PhD

Dr. Kari Lavik is a postdoctoral fellow at the University of Michigan in the laboratory of Dr. Jordan Shavit. She received a B.A. in biology from Case Western Reserve University, and her Ph.D. in Biomedical Sciences from The University of Toledo. Her graduate work focused on the study of cancer motility and metastasis through which she became interested in using zebrafish as a model for human disease. In February of 2017, Dr. Lavik joined the Shavit Laboratory in the Department of Pediatrics at the University of Michigan to use zebrafish for the study of bleeding and clotting disorders. For her 2018 JGP fellowship project, she will model hemophilia in the zebrafish, looking for novel species-specific regulators of hemostasis. By delving deeper into the genetic mechanisms that underlie the intrinsic pathway in zebrafish, Dr. Lavik will look for novel gene interactions that can be therapeutically targeted in patients with hemophilia.

Yoga for People with Bleeding Disorders and Chronic Pain

Yoga for People with Bleeding Disorders and Chronic Pain

Year: 2020
Grants:
Physical Therapy Excellence Fellowship
Author(s):
Nancy Durben

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.

EMS Education

EMS Provider Education Regarding Bleeding Disorders and the Treatment Required in an Emergency

Year:
-
Grants:
Nursing Excellence Fellowship
Author(s):
Lydia Johnson

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.

Identification, Characterization and Therapeutic Targeting of Key Molecular Markers and Pathways Implicated in the Development of Hemophilic Arthropathy

Identification, Characterization and Therapeutic Targeting of Key Molecular Markers and Pathways Implicated in the Development of Hemophilic Arthropathy

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilic Arthropathy
Pain
Hemophilia A (Factor VIII/F8)
Hemophilia B (Factor IX/F9)
Author(s):
Esther Cooke

Dr. Esther Cooke received her Ph.D. from the Leeds Institute of Cardiovascular and Metabolic Medicine at the University of Leeds, U.K., where she studied the role of fibrinogen phosphorylation in thrombosis. Dr. Cooke is currently a postdoctoral fellow in the laboratory of Dr. Annette von Drygalski, at the University of California San Diego, and in collaboration with the laboratory of Dr. Laurent Mosnier at the Scripps Research Institute. Dr. Cook's JGP Fellowship project will focus on pathological mechanisms associated with joint bleeding, re-bleeding, and the development of hemophilic arthropathy. Dr. Cooke will perform comprehensive gene expression analyses to explore key molecular markers and pathways that drive soft tissue inflammation and vascular changes in joints after bleeding. In this way, she hopes to identify new therapeutic targets and develop novel treatment strategies to down-regulate these processes, thereby reducing re-bleeding tendency and slowing the progression of hemophilic arthropathy.