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Grant Recipients

For nearly 30 years, AAMDSIF has provided research grants totaling in excess of $5 million to an international group of more than 90 researchers to help advance the understanding and treatment of aplastic anemia, myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH).

The two-year grants have helped bring forth new insights into the causes and therapeutic approaches for these diseases. These grantee profiles present the grantees by year the awards were granted, and a summary of their grant-funded research projects.

View a single grant year.

Grant Year: 2015

Britta Will, PhD

Harold Spielberg Research Fund

Myelodysplastic syndromes (MDS) are the most common hematologic malignancies in the elderly, presenting as bone marrow failure and characterized by disorderly growth and differentiation of aberrant hematopoietic stem and progenitor cells. Bone marrow transplantation is currently the only curative option for MDS. Even though 5-azacitidine (5-aza) has resulted in clinical responses and improvements in overall survival, relapse and refractory disease continue to occur in some patients. Recent findings show that cancer-initiating cells (CIC) can exist as pools of relatively quiescent cells that do not respond well to common cell-toxic agents and contribute to treatment failure. In fact, we and others have shown that karyotypically abnormal hematopoietic stem cells (HSCs) can survive during...

Grant Year: 2014

Daria Babushok, MD, PhD

Sam Jordan Research Fund, Stephen and Joanna Janowiak Research Fund, Torry Yahn Research Fund

Aplastic anemia (AA) is a devastating blood disorder, affecting children and adults, caused by immune attack on the bone marrow. Factors that determine recovery, relapse, and transformation to myelodysplasia in aAA remain poorly defined, and there is a dearth of studies in pediatric patients. Emerging data suggest that mutations in the bone marrow and in the pathogenic immune cells contribute to disease evolution and relapse. To study this, I will employ cutting-edge genomic techniques to characterize pathogenic mutations in aAA. These studies will improve treatment of patients with pediatric AA by allowing early detection of clonal evolution and disease progression.
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Luis Batista, PhD

Bradley Richard Research Fund, Research is Hope Fund

Bone marrow failure is a serious condition that occurs when the bone marrow stops making enough healthy blood cells. A risk for bone marrow failure is genetic instability, including exacerbated shortening of telomeres (repetitive DNA sequences that cap chromosome ends). Using different genetic and biochemical approaches, this proposal will use cells derived from bone marrow failure patients that have telomere attrition as a platform for the development of clinical therapies against this disease. These experiments will increase our knowledge on stem cell function and regulation in bone marrow failure syndromes.

Rosannah Cameron, PhD

Lindsay Minelli Research Fund, Research is Hope Fund

We do not yet fully understand the process of disease progression in MDS. We know certain genes are involved because mutations in those genes have been found in MDS patients. We need to understand which genes are important early in the disease and which ones act later. Our goal is to identify the genes that act early in MDS, so that ultimately, our research will lead to new treatment options that are more specific and effective.

Youmna Kfoury, PhD

Lisa Lancaster Research Fund

Myelodysplastic Syndromes (MDS) are a group of diverse and incurable pre-leukemic disorders. Even though a deregulated bone marrow microenvironment is thought to participate in the disease, its role remains elusive. Since the microenvironment is better understood in mice, we have identified a subset of cells in the human bone marrow that is equivalent to those cells in mice which, when perturbed, lead to MDS. We propose to characterize these cells in patient samples at the cellular and molecular level. This will provide a better understanding of the abnormal signaling pathways involved in MDS, and eventually identify therapeutic approaches.

Patrizia Ricci, PhD

PNH Research and Support Foundation

PNH is a rare hematological disease characterized by spontaneous destruction of red blood cells (intravascular hemolysis), poor functioning of bone marrow, and thrombosis. Recently, the availability of the complement inhibitor eculizumab has dramatically improved the treatment of PNH. Nevertheless, about half of the patients treated with eculizumab shows a persistence of clinical signs of the disease. We have recently described the reasons underlying the limited efficacy of current anti-complement treatment for PNH. With this proposal we aim to complete the pre-clinical development of a novel complement inhibitor which targets early events in complement activation, the component-3 of the complement cascade.

Chao-Yie Yang, MD, PhD

PNH Research and Support Foundation

Uncontrolled complement activation caused by a gene (PIG-A) mutation in hematopoietic stem cells has been characterized in PNH. Patients suffer from hemolysis, thrombosis and bone marrow failure. Current FDA-approved only treatment for PNH is eculizumab which is expensive, unable to eradicate PNH clone, not orally available, requires clinic-bound infusions via iv access and lifelong therapy. In this proposed work, we will discover and make rational designs to small molecules guided by protein structures to develop complement inhibitors. The promising small molecule inhibitors identified from this work will be evaluated and used to develop orally-available therapeutics to treat PNH patients.

Grant Year: 2013

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Andrew Dancis, MD

Research is Hope Fund

Myelodysplasia is a bone marrow failure syndrome with a tendency to progress to leukemia. A characteristic finding in blood cell precursors of some individuals with myelodysplasia is the ringed sideroblast, a cell that accumulates large amounts of toxic iron in mitochondria. Recently, the presence of these abnormal mitochondria has been correlated with mutations of the splice factor SF3B1. We plan to investigate the mitochondria of these cells with perturbed SF3B1, aiming to gain insight into mitochondrial causes of myelodysplasia. This may point to new therapies.
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Hideki Makishima, MD, PhD

PNH Research and Support Foundation

PNH is a disease in which a mutation in the gene called PIG-A is acquired in the stem cells (mother cells of all blood cells) in the bone marrow of patients.  As a result the blood cells produced by this stem cell are defective.  While previous discover of the PIG-A gene mutation has helped to explain the symptoms in the disease, it remains unclear how PIG-A mutation makes the PNH stem cells outcompete healthy stem cells.  In this project we propose to apply a very efficient sequencing technology to examine all genes in PNH stem cells to see whether additional mutations will explain how PNH develops.  In the initial experiments we have identified such additional mutations.  They may help to devise treatments to eradicate PNH stem cells from the...
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Rosario Notaro, MD

Amber Lynn Wakefield Research Fund

Aplastic anemia and Paroxysmal Nocturnal Hemoglobinuria (PNH) are two serious blood disorders that share one important feature:  the bone marrow cannot always keep up with the body’s needs for blood cells.  We call this feature bone marrow failure (BMF); it means that there may be anemia, low white cells (particularly neutropenia, entailing the risk of infection), low platelets (with risk of bleeding).  Recently we have analyzed in depth a type of lymphocyte cells called T cells in patients with PNH, and we have found that they have an excess of a very rare subset of T cells that are able to recognize a specific glycolipid molecule (a molecule that contains both a sugar moiety and a fat moiety) – we have called them GPI-reactive T cells.  We now plan to...
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