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.

Dr. Kenneth Childers

Structural Investigation of Activated Factor VIII and the Intrinsic Tenase Complex by Single-Particle CryoEM

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
FVIII/FVIX Deficiency
Author(s):
Dr. Kenneth Childers

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 Sanchez-Ventura

Clinical and Molecular Profiles Associated with Robust and Sustained Hydroxyurea Response for Patients with Sickle Cell Disease

Year:
-
Grants:
Jeanne Marie Lusher Diversity Fellowship
Pediatrics
Sickle Cell
Hydroxyurea
Author(s):
Dr. Luisanna Sanchez-Ventura

My commitment to sickle cell disease (SCD) research started early during my medical career, driven by a magnificent opportunity to actively participate in the conduction of the SACRED study (Stroke Avoidance for Children in República Dominicana). This clinical trial aims to investigate the use of transcranial Doppler ultrasound screening and hydroxyurea therapy for stroke prevention in pediatric patients with SCD. Today, SACRED is the largest and most important research study involving SCD in the Dominican Republic (my home country).

This experience fueled in me a strong purpose to better understand blood disorders, particularly SCD, and how to improve outcomes for individuals with this condition. I completed my Pediatric Residency at Cincinnati Children’s Hospital and my Pediatric Hematology/Oncology Fellowship at Texas Children’s Hospital. Training under the mentorship of international leaders in the field of pediatric hematology, allowed me to continue to gain clinical experience while expanding my scholarly pursuits and interest in clinical research. I am now a Sickle Cell specialist at Indiana Hemophilia and Thrombosis Center. With the support of the JML Fellowship, I am investigating the clinical and hematopoietic profiles of children with SCD associated with a sustained induction of fetal hemoglobin response to hydroxyurea treatment. The results of this project may help predict hydroxyurea response, allowing a more individualized approach to treatment of both pediatric and adult patients with SCD.

My career goal is to follow the footsteps of Dr. Jeanne Lusher by leveraging clinical and translational research to improve care for patients with chronic hematological disorders around the world. I am currently a member of the Committee of Diversity, Equity, and Inclusion of the American Society of Hematology (ASH), as well as a member of the National Alliance of Sickle Cell Centers.

Dr. Marie Alice Hollenhorst, MD

Towards Improved Diagnostic Assays for Immune Thrombocytopenia Syndromes by Defining the Glycosylation of Platelet Glycoprotein IIb

Year:
-
Grants:
Career Development Award
Author(s):
Dr. Marie Alice Hollenhorst, MD

Dr. Hollenhorst is Associate Physician at Brigham and Women’s Hospital, Division of Hematology, and Instructor of Medicine at Harvard Medical School. She is a physician and scientist with an interest in hemostasis and thrombosis.

Dr. Hollenhorst pursued combined MD and PhD training at Harvard University, where she received a PhD in Chemical Biology under the mentorship of Professor Christopher T Walsh. She subsequently completed a residency in Internal Medicine at Brigham and Women’s Hospital, a fellowship in Transfusion Medicine at Harvard Medical School, and a fellowship in Hematology at Stanford University. While at Stanford she worked in the laboratory of Professor Carolyn Bertozzi at the Chemistry, Engineering, and Medicine for Human Health (ChEM-H) Institute, and served on the clinical faculty in Hematology and Transfusion Medicine.

In 2023, Dr. Hollenhorst opened her laboratory at Brigham and Women’s Hospital and Harvard Medical School. Her lab uses chemical techniques to study glycoproteins that are important for bleeding and clotting disorders. She has a clinical practice focused on hemostasis and thrombosis.

Tam E. Perry, MSSW, MA, PhD

Aging with Hemophilia: Understanding the varied experiences of living with changed time horizons

Year:
-
Grants:
Social Work Excellence Fellowship
Aging
Author(s):
Tam E. Perry, MSSW, MA, PhD

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 is co-director of the NIH funded Community Liaison and Recruitment Core of the Michigan Center for African American Aging Research. She also currently serves as research chair for a multi-agency coalition, Senior Housing Preservation Detroit. She has recently been selected to be a fellow in the Gerontological Society of America and is the past-president of the Association for Gerontology Education in Social Work (AGESW).

She became interested in the hemophilia community as she learned more its history, resilence and advocacy and vulnerability. She is excited that she is meeting more individuals touched by this research topic and has enjoyed sharing the work in a variety of venues.

 

Sara L. Schwartz, PhD, MSW

Aging with Hemophilia: Understanding the varied experiences of living with changed time horizons

Year:
-
Grants:
Social Work Excellence Fellowship
Aging
Author(s):
Sara L. Schwartz, PhD, MSW

Dr. Sara L. Schwartz, PhD, MSW is an Associate Teaching Professor in The University of Southern California Suzanne Dworak-Peck School of Social Work. In this role, Dr. Schwartz teaches across the master and doctoral programs and recently founded the Visual Social Work Certificate Program. Her scholarship focuses on the experiences of aging with hemophilia and HIV/AIDS from a tauma informed perspective; the intersectional experiences of religion, race and history; and building a visual social work methodology. For the past five years, Dr. Schwartz has served on the Board of the Directors for the National AIDS Memorial and previously served on the Board of The HIV Story Project in San Francisco.

Ellen Kachalsky, LMSW

Aging with Hemophilia: Understanding the varied experiences of living with changed time horizons

Year:
-
Grants:
Social Work Excellence Fellowship
Aging
Author(s):
Ellen Kachalsky, LMSW

Ellen Kachalsky has served the hemophilia community for many decades.  Previously received funding from NHF with Dr. Karen Allen, in the area of aging and hemophilia from the practitioner context and we co-authored an article on "Aging with Hemophilia - Implications for Social Work Practice." Also published a number of articles on related topics such as pain management with her HTC colleagues at Henry Ford Health in collaboration with Munson Medical Center, as well as actual and ideal roles of practitioners in hemophilia treatment centers with a group of HTC Social Workers from across the United States.

Ellen has her Masters of Social Work degree from Adelphi University in New York, but then moved to Michigan, with her husband.  Ellen has worked at Henry Ford Hospital for over 25 years, including Bone Marrow Transplant and Hem-Onc, the Multi-Disciplinary Clinics for Breast Cancer, Head and Neck Cancer, and Brain Tumors.  She has worked in Hemophilia since 1999, with prior experience also in Family Practice, ICU and Step-Down units at other hospitals in the metropolitan Detroit area. She also worked for 3 years as the Resident Service Coordinator at HUD-subsidized Senior congregate living, where she helped residents maintain their independence by linking them with community resources and providing support, counseling and programs.
 
She enjoys helping clients with learning and growing with their conditions, as well as teaching about the ins and outs of insurance so that they can get the maximum benefit from their insurance plans, financial and work/career considerations.  Her goals include helping clients realize their full potential in education and employment so that they may lead happier and productive lives, in spite of issues related to bleeding disorders, and to help them adapt to changes as they mature and change

 

Dr. Qian Liang

Mapping inter-domain interactions in VWF with new type 2B von Willebrand disease mutations

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Author(s):
Dr. Qian Liang

Dr. Qian Liang received the MBBS degree in 2010 from Sichuan University and the M.S. degree in 2013 from Shanghai Jiaotong University in China. Dr. Liang worked as a Research Fellow in the Department of Laboratory Medicine in Shanghai Ruijin Hospital, which is a Heamophilia Treatment Centre for hard-to-treat patients in the Southeastern region of China. She received her Ph.D. degree in Laboratory Medicine in 2022, and is currently a visiting postdoctoral fellow in Professor Renhao Li’s lab in the Aflac Cancer and Blood Disorder Center, Department of Pediatrics at Emory University School of Medicine. Her research work focuses on the structure and function of von Willebrand factor, as well as the development of related diagnostics and therapeutics, and she has published 6 research papers.

Tomasz W. Kaminski

Neutrophil Extracellular Traps Promote Joint Injury in Hemophilia

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Joint Health
Author(s):
Tomasz W. Kaminski

Tomasz received his Pharm.D. degree in 2019 in Pharmacology and Toxicology science from Medical University of Bialystok, Poland, and immediately started his postdoctoral appointment at Vascular Medicine Institute at the University of Pittsburgh, PA. Tomasz's research focuses on the innate immune mechanisms in platelets and neutrophils as well as thrombo-inflammation pathophysiology. He uses cutting-edge intravital microscopy techniques to image in real-time the interplay between neutrophils and platelets during the initial stages of immune system activation. His work has authentic interdisciplinary nature since he studies cross-talk between innate immune signaling in neutrophils, Factor VIII deficiency, liver diseases and macroscale proteomics and genomic profiles of neutrophils and platelets under inflammatory stress. Until now, he proved that neutrophil activation seems to be a key player in the hemophilic arthropathy progression, dedifferentiated sinusoidal endothelium impacts liver-directed gene transfer in Hemophilia-a mice, and that liver to lung microemboli NETs promote Gasdermin-D-dependent inflammatory lung injury in Sickle Cell Disease. Tomasz has been appreciated with multiple awards from national and international societies and institutions as well as his research activities were supported by numerous extramural funding sources. In his scientific and personal life, he proudly follows the University of Pittsburgh's motto - Veritas et Virtus.

Katie Klütz, MSW, LCSW

Improving Transition Outcomes

Year:
-
Grants:
Social Work Excellence Fellowship
Author(s):
Katie Klütz, MSW, LCSW

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.

Olubusola Oluwole

A Prospective Study of Clinical and Imaging Assessment of Cognitive Function and its Association with Anemia in Adults with Sickle Cell Disease

Year:
-
Grants:
Jeanne Marie Lusher Diversity Fellowship
Adults
Anemia
Sickle Cell
Cognitive Function
Author(s):
Dr. Olubusola Oluwole

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

Determining Clinical Severity and Molecular Profiles of Acute Chest Syndrome in Sickle Cell Disease

Year:
-
Grants:
Jeanne Marie Lusher Diversity Fellowship
Children
Sickle Cell
Anemia
Acute Chest Syndrome
Author(s):
Dr. Shani Johnson

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.

Joseph Stanco

Implementing Primary Care Screening at the HTC

Year:
-
Grants:
Nursing Excellence Fellowship
Author(s):
Joseph Stanco

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.

Benjamin Samelson-Jones

Protein engineering for an optimized factor VIII for Hemophilia A therapy

Year:
-
Grants:
Career Development Award
Hemophilia A
Gene Therapy
Author(s):
Benjamin Samelson-Jones

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.

Ze Zheng

Reducing Severe Bleeding Symptoms in Hemophilia by Lowering Fibrinolysis

Year:
-
Grants:
Career Development Award
Hemophilia A
Hemophilia B
Author(s):
Ze Zheng

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. 

Sean Quinn, PhD

Antibody-mediated FV/FVa resistance as a therapeutic approach for hemophilia

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Factor V
Author(s):
Sean Quinn, PhD

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.

Yuan Zhang, PhD

Roles of the B domain in regulating the synthesis and secretion of FVIII Year 2021-2023

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia A (Factor VIII/F8)
Author(s):
Yuan Zhang, PhD

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, PhD

Rescue of FVIII mutant expression by translational and post-translational modulation using small molecule therapy

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
Hemophilia A (Factor VIII/F8)
Author(s):
Vishal Srivastava, PhD

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

Platelet Dysfunction in Ehlers-Danlos Patients with Bleeding Phenotype

Year:
-
Grants:
Innovative Investigator Research Award
Platelets
Mild Bleeding Disorders
Author(s):
Dr. Mariia Kumskova

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.

Kaushik Das

The role of FVIIa-released endothelial extracellular vesicles in hemophilia therapy

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
FVIIa
Author(s):
Kaushik Das

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.

Jhansi_Magisetty

The role of EPCR-FVIIa in the pathogenesis and treatment of hemophilic arthropathy

Year:
-
Grants:
Judith Graham Pool Postdoctoral Research Fellowship
EPCR-FVIIa/Antropathy
Author(s):
Jhansi Magisetty

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”.