Research Studies

Individuals and families in the bleeding disorders community and those who experience other chronic rare conditions have not typically been engaged in patient reported registries or in clinical studies during the initial study design phase. The more participants enrolled in CVR the stronger the data and the community. CVR will establish an audience to draw in for opportunities to participate in patient-reported outcome research and other efforts as well as providing the opportunity to educate and inform individuals and families in the bleeding disorders community.

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(2021), Abstract. Res Pract Thromb Haemost, 5: e12554. https://doi.org/10.1002/rth2.12554

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.

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. 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.

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.

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.

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.