Research Studies

Kirsty Hillier, MD, is an Assistant Professor of Pediatric Hematology/Oncology at NYU Grossman School of Medicine and an Attending Physician at Hassenfeld Children’s Hospital at NYU Langone. Dr. Hillier is a physician-scientist dedicated to improving outcomes for children with autoimmune cytopenias. After earning her medical degree, she completed her pediatric residency and chief residency at Texas Children’s Hospital/Baylor College of Medicine. She subsequently completed her Pediatric Hematology/Oncology fellowship at Boston Children's Hospital/Dana-Farber Cancer Institute, where she trained in immunohematology and explored autoreactive B cell biology in the lab of Dr. Shiv Pillai at the Ragon Institute of Mass General Brigham, MIT, and Harvard.

In her current role, Dr. Hillier conducts translational research to investigate immune cytopenia biology and outcomes. Her project focuses on understanding B cell dysfunction in immune thrombocytopenia (ITP), including its impact on chronicity and severity of disease. She is particularly interested in integrating bioinformatics and immunology tools to uncover mechanisms of immune dysregulation in pediatric ITP.

Dr. Saurabh Kumar is working as a postdoctoral fellow in Dr. Qizhen Shi’s lab at the Versiti Blood Research Institute, Milwaukee, Wisconsin. He received his Ph.D. from the CSIR-Central Institute of Aromatic and Medicinal Plants/Jawaharlal Nehru University, India. As a recipient of the JGP Fellowship, he will investigate the role of the Tfh/Tfr pathway in the immune responses to FVIII during the development of FVIII inhibitors in hemophilia A (HA) mice. His goal is to develop new interventions that can prevent FVIII immune responses in HA patients and help establish effective immune tolerance in those with inhibitors.

Alice Todaro, PhD is a recipient of the NBDF Judith Graham Pool (JPG) Postdoctoral Research Fellowship. She completed her PhD in Biochemistry and Molecular Biology at CARIM (Cardiovascular Research Institute Maastricht), Maastricht University, The Netherlands. Currently, she is post-doctoral fellow at the Children’s Hospital of Philadelphia. With the support of JGP fellowship, her research will focus on understanding the regulation and functions of coagulation factors in hemostasis, the physiological process by which the body stops bleeding and repairs damaged blood vessels. This research may uncover new therapeutic targets for bleeding disorders in order to restore the hemostatic balance.

Bhavya Doshi, MD, is a Pediatric Hematologist at the Aflac Cancer and Blood Disorders Center at Children's Healthcare of Atlanta and an Assistant Professor Pediatrics at Emory University School of Medicine. She is a physician-scientist specializing in the care for children with bleeding and clotting disorders who employs multiple research approaches to improve diagnostics and therapeutics for patients with bleeding disorders.

 Her research focuses on hemophilia; a bleeding disorder treated with clotting factor medicine. Some patients develop “inhibitors,” which are antibodies that block the treatment and make it stop working. These inhibitors can lead to more serious bleeding problems. Dr. Doshi’s work studies how changes in the immune system cause inhibitors to form. She examines immune cells, immune signals in the blood, and genetic differences using patient samples and laboratory models. The ultimate goal of this work is to improve care for people with hemophilia by identifying patients at higher risk, supporting more personalized treatment, and developing new ways to prevent inhibitors.

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.

Stressful things that happen to us as children can increase the risk of health problems when we become adults. There are no studies about what that means for people who have bleeding disorders. We want to find out whether having more stressful things happen as a child leads to having more health problems as an adult for people with bleeding disorders. We will ask people in our study about their childhood experiences and their health to see if there is a connection.

Even with modern treatments, athletes with hemophilia can still develop joint damage that routine clinic exams may not fully detect. This study will test whether two imaging methods, standing CT scans and ultrasound, can better show early joint changes, and how joint health differs between athletes who take regular preventive treatment and those who do not. Standing, low dose CT scans create detailed 3D pictures of the joints while the athlete is standing, showing how the bones and joint space look under real life load. Ultrasound allows quick imaging in the clinic and can detect early joint inflammation and other soft tissue changes during sports rehabilitation visits.

We will compare how well ultrasound and weight bearing CT detect joint damage in athletes with hemophilia. We expect that weight bearing CT will be better at picking up small, early structural changes, that athletes on prophylaxis will have less joint damage on both tests, and that ultrasound will agree closely enough with weight bearing CT to be used as a practical screening tool in the hemophilia clinic. Aim 1a: Test how closely ultrasound and weight bearing CT agree when rating joint damage in ankles and knees, using CT as the main reference. Aim 1b: Compare joint damage between athletes on versus off prophylaxis, using both imaging methods and their factor trough levels. Aim 2: See how realistic and useful it is to add a brief, standardized ultrasound exam to routine sports physical therapy visits.

Self-compassion, which means being kind and understanding toward yourself during difficult times, has been shown to support mental health and wellbeing in several health conditions. This project supports research in understanding how women and girls with inherited bleeding disorders experience self-compassion. 

Dr. Zhao was originally born in Jinan, China and moved to the United States at an early age of 4. He grew up in Houston (TX), Richmond (VA), and Atlanta (GA). Dr. Zhao went to college at Emory University and majored in Chemistry (BS) before going to medical school at Washington University in St. Louis (2011-2015). He trained in internal medicine residency at BJH/WashU (2015 - 2018) then worked as a hospitalist on bone marrow transplant at WashU (2018 - 2025). Dr. Zhao is currently a first-year fellow in the Hematology Track within the Hematology Oncology Fellowship Program at WashU Medicine.

Dr. Deeksha Katoch is a third-year pediatric hematology-oncology fellow at Yale University School of Medicine with a clinical and research focus in benign hematology and inherited bleeding disorders. She will be joining the faculty of the Yale Hemophilia Treatment Center upon completing her fellowship.

Dr. Katoch completed her medical degree at Government Medical College, Jammu, India, and went on to serve as a medical officer in the Indian Air Force, caring for patients in some of the most underserved regions of the country. That experience shaped her interest in access to care, which remains central to her work today. She completed her pediatric residency and chief residency at SUNY Downstate Medical Center in Brooklyn before joining the Yale fellowship in 2023. She is also concurrently pursuing a Master of Health Science in Clinical Informatics and Data Science at Yale to strengthen her ability to work with large datasets.

As an NBDF-Takeda Clinical Fellow, Dr. Katoch will train in the care of patients with hemostatic and coagulation disorders under the mentorship of Dr. Robert Bona, Dr. Stephanie Prozora, and Dr. Michael Recht at the Yale Hemophilia Treatment Center. Her research will focus on access to care in patients with inherited bleeding disorders, examining how geographic and socioeconomic factors affect outcomes in this unique population.

Dr. Katoch has been recognized by several national organizations, including the American Thrombosis and Hemostasis Network (DREAM Award, 2024-2026), the American Society of Hematology (Oral presentation 2025, Abstract Achievement Award 2023 & 2025), and the American Society for Transplantation and Cellular Therapy (Travel Grant, 2024). Her long-term goal is to build a career as a clinician-investigator in pediatric bleeding disorders, with a focus on improving access to comprehensive care for underserved patients.

The Community Voices in Research registry is powered by the community and collects information about what it is like to live with a bleeding disorder from the people who know these conditions best: those with lived experience. This study describes a sample of female participants based on their diagnosis, race, ethnicity, income, age, employment, and education. Most participants identify as non-Hispanic and White. About half of the sample has a diagnosis of von Willebrand disease (VWD) or hemophilia A. The average age of participants is approximately 44 years. Most work full time, and the most commonly reported level of education is a high school diploma or equivalent. After adjusting for household size, the median annual income is about $23,000, with incomes ranging from $314 to $190,000. Researchers are continuing to study this sample to better understand how these demographic and socioeconomic factors relate to reproductive bleeding experiences among females. AI was used for this summary.

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The Community Voices in Research registry is community powered and collects information about what it is like to live with a bleeding disorder from those who know these conditions the best: lived experience experts. This research describes a sample of males and females comparing the amount of time that passed between their age at first symptoms and their age at the time of diagnosis. We have found that females tend to experience a greater time to diagnosis than males in the CVR registry, which is statistically significant for all diagnoses except VWD. The time to diagnosis appears to be decreasing for younger generations of women compared to their older counterparts. In terms of race, White males were more likely than non-White males to have a time to diagnosis of under one year, but no difference was found for females. For ethnicity, Hispanic males were more likely to have a time to diagnosis of under one year than non-Hispanics, but no difference was found for females.

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Merika Hawes, MSW, LMSW, is the Hemophilia Social Worker at the Augusta University Pediatric Hemophilia Treatment Center at the Children’s Hospital of Georgia in Augusta, Georgia. Since 2021, she has worked with children, teens, and families who have bleeding and clotting disorders. She earned her Master of Social Work degree from the University of South Carolina in Columbia, South Carolina. The “Emergency Preparedness of Bleeding Disorders” research is designed to help patients get ready for natural disasters. It aims to lower anxiety during emergencies, reduce PTSD symptoms after disasters, and decrease depression following natural disasters.

Caroline Trotter, CPNP-PC/AC, is a pediatric nurse practitioner at the Hemophilia of Georgia Center for Bleeding and Clotting Disorders within Children’s Healthcare of Atlanta and Emory University. She received her Master of Science in Nursing from the University of Alabama at Birmingham and is certified in both primary and acute care.  She has worked within the hemophilia treatment center for almost 5 years and has developed a passion for this population. 

Her research focuses on girls with bleeding disorders and heavy menstrual bleeding. Current projects are aimed at creating a screening and treatment process for Vitamin D deficiency in these patients as well as comparing vitamin D levels across various heavy menstrual bleeding treatment regimens. As there is not currently a vitamin D screening guideline, this research may help identify a gap in care.

Arthur Long, DPT, OCS is a board-certified orthopedic physical therapy specialist and faculty member at the University of California, San Francisco (UCSF). He teaches orthopedics in the UCSF Doctor of Physical Therapy program and treats patients at the UCSF Adult Hemophilia Treatment Center. He also volunteers with community programs such as Camp Hemotion, where he supports youth living with bleeding disorders.

His NBDF-funded project, Strength in Numbers, examines whether hand grip strength testing can serve as a useful clinical measure to include during routine joint health testing for people with bleeding disorders. While grip strength is well studied as a measure of overall health in other groups, it has not been evaluated for people with bleeding disorders. This study explores how grip strength relates to daily function and grip strength may differ in people with bleeding disorders compared to the general population. The findings may help clinics better track joint health, guide treatment decisions, and identify problems earlier. This supports NBDF’s mission to reduce complications and improve care for the bleeding disorders community.

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.

Huong Chau, PhD, earned her Bachelor of Science in Biomolecular Engineering from Santa Clara University in 2019 and her Ph.D. in Integrative Pathobiology from University of California, Davis in 2024. She is currently a postdoctoral researcher at the Stanford University in the Department of Pediatrics where she works in Dr. Glaivy Batsuli’s lab. The Batsuli Lab’s research focus is on the immune response against coagulation factors missing in hemophilia. 

Hemophilia B is a bleeding disorder that results in bleeding after injuries or even without injury. Treatment involves replacing the missing blood clotting protein factor IX. However, some patients develop “inhibitors,” which are harmful antibodies that the immune system produces that block the treatment from working. Dr. Chau’s research studies why this happens and looks for ways to prevent the body’s natural defense against the factor IX treatments needed by people living with hemophilia B. 

Marisa Brake, PhD, is a postdoctoral fellow at Beth Israel Deaconess Medical Center in Boston, MA. She earned her PhD in Biomedical Sciences from Oakland University in Michigan. Dr. Brake studies how differences in our genes can raise the risk of bleeding or blood clots. Her current project focuses on changes in a protein called tissue factor (TF), which is the first signal that helps the blood start to clot. Having low levels of TF is very rare, and it has not been well studied in many people. Dr. Brake has found a small group of people who have lower TF levels, and she is working to understand how this affects their clotting and bleeding risk. This research will help show how TF deficiency may impact bleeding risk in the wider population.

The National Research Blueprint (NRB) was a U.S. National Bleeding Disorders Foundation (NBDF) initiative to better understand all facets impacting research and to set the foundation for what and how inheritable bleeding disorders research should be done in the future. The personal journeys of Lived Experience Experts (LEEs), individuals living with disorders, are highly valuable. It is critical to incorporate them throughout all stages of future research. The NRB made sure LEEs were heard from the very beginning of the development process and throughout. The goal was to place diverse LEEs from across the community at the center of research, with all collaborative partners recognizing LEEs as equal partners.

One NRB working group developed a list of priorities to make future inheritable bleeding disorders research more inclusive and reflective of the community. They combined community input and medical, research, and lived experience expertise to choose 327 top research priorities. They ensured all priorities were feasible.

Another working group conducted a survey of the current workforce at bleeding disorders centers, often called hemophilia treatment centers (HTC). They asked the different professionals about their interest, capacity, and barriers in doing research. Based on the results, they proposed training and resources needed to develop a diverse workforce that can ensure successful future research.

There is a great potential for collaborative research across the country. HTCs can act as hubs in a network of national partnerships. The incorporation of LEEs as valued partners in this Bleeding Disorders Research Collaborative is imperative. Cross-training of LEEs, HTC professionals, and other researchers will be necessary to ensure its success.

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Over the past several years, bleeding disorders advocates and other community leaders have worked together to create the National Research Blueprint for a new U.S. Bleeding Disorders Research Collaborative. Its goal is for research to be more inclusive and to better meet the needs of all people with inheritable bleeding disorders. The National Research Blueprint was developed through the support of the U.S. National Bleeding Disorders Foundation.

The Bleeding Disorders Research Collaborative will be driven by people with inheritable bleeding disorders, and their impacted caregivers and family members; a group referred to as Lived Experience Experts. A Research Ambassador Program will train diverse Lived Experience Experts to contribute to all research teams and projects. Their insights will be integrated into all areas including, but not limited to, choosing and designing studies, running them, and sharing information about research with the community. Researchers will be trained to communicate and collaborate effectively with Lived Experience Experts, so they can work well together.

Everything the Bleeding Disorders Research Collaborative does will firmly apply the principles of health equity, diversity, and inclusion. The National Bleeding Disorders Foundation and the Bleeding Disorders Research Collaborative must partner with others who share this vision for research that prioritizes and respects the needs and perspectives of all people with inheritable bleeding disorders. Together they must secure policies and funding supporting this way of doing research. The success of the proposed Bleeding Disorders Research Collaborative requires the collective backing and engagement of the entire community: researchers, healthcare providers, Lived Experience Experts, advocacy organizations, regulators, policymakers, funders, and industry.

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