Funded by Foundation

CC is a Hematology Social Worker & Health Equity Specialist at the Utah Center for Bleeding and Clotting Disorders at Primary Children’s Hospital in Salt Lake City, UT. She works primarily with children and adolescents with bleeding disorders, and she has a special interest in the sickle cell disease population. In May 2024, CC obtained a master's degree in both Social Work and Public Health from the University of Utah. In her current position, she is looking to strengthen her clinical skills, learn about her patients' needs, and advocate for better health outcomes for the most vulnerable members of the community.

The purpose of this project, "Identifying and Addressing Gaps in Care Among Menstruating Individuals in Utah," is to better understand the gaps that exist in caring for individuals in Utah with heavy or prolonged menstrual bleeding, as well as implement interventions to address these gaps. Such interventions may include working with primary care providers to screen for individuals with heavy periods, educating medical professionals on the treatment that is available for the management of heavy or prolonged periods, and ensuring that referrals made to specialists by primary care physicians are efficient and appropriate. 

John “Jack” DeLoach, DPT, specializes in outpatient pediatrics and early intervention. He has worked at UF Health Rehab Center and Kids on the Move in Gainesville for the past three years, treating a wide range of patients in clinical, home, and telehealth settings. In addition to his clinical work, John serves as an adjunct faculty member at the University of Florida and is the physical therapist for the Hemophilia and Hemostasis Treatment Center. His expertise includes piloting telehealth programs, advancing joint health clinics, and providing care in critical care settings for both pediatric and adult patients.

People with hemophilia receive regular clotting factor infusions in order to prevent bleeds, as well get routine blood draws during clinic visits. Vascular access can be difficult in children with hemophilia and can become a stressor, impacting compliance with medication schedules and attitudes toward healthcare systems and procedures. This project aims to explore the impact of exercise on the ease of vascular access. We hope to show that regular exercise, as well as exercise immediately before an infusion/blood draw, will make accessing veins easier. We will also collect data on the impact of our protocol on fear of needles and fear of movement/exercise, in hopes that easier vascular access will decrease fear.  

Bhavya Doshi, MD, is a pediatric hematologist and just accepted a new faculty position at Emory University in Atlanta, GA where the hemophilia group has been well-established in the study of factor VIII inhibitors. Dr. Doshi specializes in caring for children with bleeding and clotting disorders. She completed her medical training and pediatric residency at Emory University School of Medicine in Atlanta, GA and her pediatric hematology/oncology fellowship at the Children’s Hospital of Philadelphia. Dr. Doshi is a physician scientist with expertise in basic and translational approaches to improving diagnostics and therapeutics for patients with bleeding and clotting disorders. Her laboratory conducts research focused on the development, persistence, and management of neutralizing antibodies to protein replacement therapy and gene therapy in hemophilia. Her work has identified hemophilia A patients with anti-factor VIII antibodies who may be amenable to alternative treatment modalities whether bypassing agents or immunosuppressive regimens. Dr. Doshi’s work aims to identify B cell signatures that are altered in patients with alloantibody responses to therapeutics and leverage these for therapeutic development.

Our research focuses on understanding why some people with hemophilia A develop inhibitors that make treatment less effective, especially with new non-factor therapies. We aim to uncover how certain immune responses, like cytokine and cell activity, contribute to the development of these inhibitors. Specifically, we are studying a protein called BAFF and its role in influencing immune cells, though it’s still unclear what causes high BAFF levels. Our findings could lead to new biomarkers and treatments for preventing inhibitor development.

Dr. Chau obtained her Bachelor of Science in Biomolecular Engineering from Santa Clara University in 2019 and her Ph.D. in Integrative Pathobiology from the University of California, Davis in 2024. Currently, she is a postdoctoral researcher at the Stanford School of Medicine, working under the mentorship of Dr. Glaivy Batsuli. Her research focuses on elucidating the innate immune response to factor IX (FIX) utilizing her expertise in bioinformatics to bridge gaps in the understanding of immune tolerance and reduce antigenicity in hemophilia B treatments.

Individuals with hemophilia B are susceptible to spontaneous and injury-induced bleeding events throughout their lives. Early diagnosis and initiation of factor IX (FIX) replacement therapy in individuals with a severe bleeding phenotype is critical for bleed prevention, managing bleeding episodes, and preventing the long-term occurrence of frequent bleeds. Roughly 3-10% of individuals with hemophilia B develop inhibitors that limit the hemostatic efficacy of FIX replacement and increases the risk of uncontrolled bleeding. In contrast to factor VIII (FVIII) inhibitor development in hemophilia A, individuals with hemophilia B and inhibitors have limited treatment options for inhibitor eradication due to the risk of hypersensitivity reactions, anaphylaxis, and nephrotic syndrome with FIX re-exposure. Despite extensive research into the immune response against FVIII, an in-depth understanding of mechanisms that define the immune response to FIX is lacking. Our research project aims to investigate the innate immune response pathway underlying the onset of FIX inhibitors. This project focuses on two aims: (1) defining the role of dendritic cell (DC) subsets in FIX inhibitor development and (2) identifying the cytokine signature, specifically IL-13, in this process. Expected outcomes of our study will contribute towards understanding FIX inhibitor development and potential therapeutic interventions.

Dr. Brake has a background in genetics, molecular biology, and biochemistry, with research experience spanning thrombosis genetics, publications in PNAS and JCI, and multiple academic awards. Currently a postdoctoral fellow at Beth Israel Deaconess Medical Center, Dr. Brake investigates the genetic regulation of tissue factor (F3) in hemostasis and cancer-associated thrombosis, while collaborating with the BioMe Biobank and aiming to eventually lead their own research lab.

This project is the first to study humans with a genetic deficiency in tissue factor, which activates the first step in the formation of blood clots. The goal is to understand how this deficiency changes the baseline amounts of byproducts produced from the blood clotting pathway, and whether these individuals have an increased risk of bleeding.

Louise Baca, MSN, RN, has over 40 years of healthcare experience, primarily specializing in oncology. She has worked in various settings, including inpatient oncology, outpatient infusion, clinical research, and as a nursing instructor. For the past 14 years, she has served in an administrative role, currently as Senior Director at Maine Medical Center, where she leads the MaineHealth Bleeding Disorders program. Under her leadership, the program has grown significantly, expanding from 2.5 to 15 FTEs and enhancing patient care in Maine and New Hampshire. Louise also serves on several committees, including the Hemophilia Alliance Board of Directors and the New England Regional Executive Committee, and has presented nationally on healthcare topics.

This project is a nurse led project (APNs and RN’s) and focuses solely on developing relationships with nurses and other clinicians in rural areas. As the only HTC in the state, it is the responsibility of the MaineHealth Bleeding Disorder nurses to educate other nurses in rural parts of Maine who will be the first point of contact. This work will create a blueprint for nurses, providing them with comprehensive information and practical ideas that can easily be implemented and assist them in caring for patients living in rural areas. These successful strategies will allow for the sharing of best practices ultimately elevating the standard of nursing care across all HTCs.

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 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.

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. 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.

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.

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.

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.

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.

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.