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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: 2014

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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Eirini Papapetrou, MD, PhD

Research is Hope Fund

Progress in understanding the etiology and effective treatment of MDS is currently hampered by the scarcity of tools to study this disease. Our goal is to harness cutting-edge human pluripotent stem cell and genetic engineering technologies to establish new models of an MDS subset characterized by loss of chromosome 7 material and use them as a novel platform to identify genes on chromosome 7 that are critical for this disease. These models should provide a powerful resource to the MDS community to investigate the cell biology, molecular pathogenesis and genetic basis of MDS, identify new therapeutic targets and perform drug screens. Read more about this study.
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Akiko Shimamura, MD, PhD

Torry Yahn Research Fund

Currently aplastic anemia is treated with immunosuppressive therapy (IST) or a bone marrow transplant.  Approximately 30% of aplastic anemia patients treated with IST are refractory to treatment or develop myelodysplastic syndromes (MDS) and leukemia.  Tests to predict which patients will fare poorly to immunosuppressive therapy would inform upfront treatment decisions.  We will utilize cutting edge genomic technologies to screen for genetic markers predictive of poor outcomes with IST.  This study will develop a novel diagnostic tool for aplastic anemia to guide treatment decisions with the goal of improving patient survival. 

Grant Year: 2012

David Araten, MD

PNH Research and Support Foundation

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a disorder in which  bone marrow failure is an important feature. The bone marrow failure in PNH is similar or identical to that which occurs in aplastic anemia. However, PNH has a few other features, some of which are well understood and some of which are not . One of the features that is not well understood in PNH includes the  expansion of an abnormal stem cell clone in the bone marrow (called clonal expansion) which can by itself provide a very large percentage of the patient's blood cells. This clone has as its feature the presence of a mutation in a gene called PIG-A. Different patients have different types of mutations in this gene, but it is always in this gene.  It has long been suspected that there may be other genes...

Lisa Minter, PhD

Caitlyn Langley Research Fund, Holly Cataldo Research Fund

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Jeffrey Pu, MD, PhD

PNH Research and Support Foundation

Acquired bone marrow failure diseases include myelodysplastic syndrome (MDS), acquired aplastic anemia (AA), and paroxysmal nocturnal hemoglobinuria (PNH). PNH is a clonal disorder originating from a multipotent hematopoietic stem cell (HSC) acquiring a PIG-A gene mutation. PIG-A mutations lead to the absence of glycosylphosphatidylinositol-anchor proteins (GPI-AP), which contributes to many manifestations of PNH. About 25% of MDS patients and 60% of AA patients also harbor small populations of PNH-like cells (0.01-10%). It was observed that: 1) 10-20% of AA patients harboring PNH-like cells eventually transform into PNH, but MDS patients seldom evolve to PNH; 2) AA patients harboring PNH-like cells may have a better response to immunosuppressive therapy; 3) PIG-A mutation...
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Matthew J. Walter, MD

Research is Hope Fund

The genes responsible for MDS initiation are largely unknown. Recently, a group of genes that are important for splicing together RNA in cells were found to be mutated in up to 57% of MDS patients. How these mutations contribute to MDS initiation is unknown. We will determine whether a mutation in one of these genes (U2AF1) affects blood cell formation in mice and alters the splicing of RNA in bone marrow cells from mice and MDS patients.
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